Variant report

Variant	nsv897756
Chromosome Location	chr11:65406393-65425167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1220)
CpG islands
(count:1527)
Chromatin interactive
region (count:69)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:10)

(count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:65420509-65421323	HepG2	liver:	n/a	n/a
2	ATF1	chr11:65419291-65419670	K562	blood:	n/a	n/a
3	ATF2	chr11:65419693-65421079	GM12878	blood:	n/a	n/a
4	ATF2	chr11:65407033-65407464	GM12878	blood:	n/a	n/a
5	ATF2	chr11:65419992-65420844	GM12878	blood:	n/a	n/a
6	ATF2	chr11:65419976-65420704	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:65406922-65407989	GM12878	blood:	n/a	n/a
8	ATF2	chr11:65420102-65421054	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr11:65420126-65420903	A549	lung:	n/a	n/a
10	BACH1	chr11:65420181-65420358	K562	blood:	n/a	n/a
11	BACH1	chr11:65414311-65415087	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr11:65419958-65420769	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr11:65407055-65407416	GM12878	blood:	n/a	n/a
14	BCL11A	chr11:65406995-65407516	GM12878	blood:	n/a	n/a
15	BCL11A	chr11:65407663-65407958	GM12878	blood:	n/a	n/a
16	BCL11A	chr11:65407047-65407452	GM12878	blood:	n/a	n/a
17	BCL11A	chr11:65407656-65408061	GM12878	blood:	n/a	n/a
18	BCL3	chr11:65419810-65420983	GM12878	blood:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
19	BCL3	chr11:65405338-65406562	GM12878	blood:	n/a	chr11:65405481-65405494 chr11:65406340-65406349
20	BCL3	chr11:65419711-65421416	A549	lung:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
21	BCL3	chr11:65419906-65421427	A549	lung:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
22	BCL3	chr11:65407045-65407424	GM12878	blood:	n/a	n/a
23	BCL3	chr11:65419863-65420644	GM12878	blood:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
24	BCL3	chr11:65414561-65414868	A549	lung:	n/a	chr11:65414575-65414584 chr11:65414817-65414830
25	BCLAF1	chr11:65407031-65407756	GM12878	blood:	n/a	n/a
26	BCLAF1	chr11:65420109-65421134	GM12878	blood:	n/a	chr11:65420395-65420404
27	BCLAF1	chr11:65407022-65408134	GM12878	blood:	n/a	n/a
28	BCLAF1	chr11:65419995-65421359	GM12878	blood:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
29	BHLHE40	chr11:65406999-65408049	GM12878	blood:	n/a	n/a
30	BHLHE40	chr11:65419779-65420228	K562	blood:	n/a	chr11:65420159-65420175
31	BHLHE40	chr11:65405616-65406435	GM12878	blood:	n/a	n/a
32	BHLHE40	chr11:65419868-65420655	GM12878	blood:	n/a	chr11:65420159-65420175
33	BHLHE40	chr11:65419312-65419440	K562	blood:	n/a	n/a
34	BRCA1	chr11:65407148-65407557	GM12878	blood:	n/a	n/a
35	BRCA1	chr11:65420618-65420914	GM12878	blood:	n/a	n/a
36	BRCA1	chr11:65420644-65420936	HepG2	liver:	n/a	n/a
37	BRCA1	chr11:65420188-65420735	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr11:65419878-65420416	GM12878	blood:	n/a	n/a
39	CBX3	chr11:65405180-65406426	K562	blood:	n/a	n/a
40	CBX3	chr11:65419086-65420752	K562	blood:	n/a	n/a
41	CCNT2	chr11:65419811-65420631	K562	blood:	n/a	chr11:65420157-65420166 chr11:65420038-65420047
42	CEBPB	chr11:65419998-65420871	GM12878	blood:	n/a	n/a
43	CEBPB	chr11:65420505-65420734	GM12878	blood:	n/a	n/a
44	CEBPB	chr11:65420291-65420413	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr11:65420930-65421130	HepG2	liver:	n/a	n/a
46	CEBPD	chr11:65419938-65420705	HepG2	liver:	n/a	n/a
47	CEBPD	chr11:65419982-65420572	K562	blood:	n/a	n/a
48	CHD1	chr11:65407170-65408141	GM12878	blood:	n/a	n/a
49	CHD1	chr11:65420075-65420992	GM12878	blood:	n/a	n/a
50	CHD1	chr11:65405393-65406505	GM12878	blood:	n/a	n/a

(count:1527 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65409861-65409911	SAEC	small airway:	n/a
2	chr11:65414099-65414149	HCM	heart:	n/a
3	chr11:65409861-65409911	SAEC	small airway:	n/a
4	chr11:65414099-65414149	HCM	heart:	n/a
5	chr11:65408429-65408479	HUVEC	blood vessel:	n/a
6	chr11:65414099-65414149	GM06990	blood:	n/a
7	chr11:65410028-65410078	Hepatocyte	liver:	n/a
8	chr11:65412579-65412629	Hela-S3	cervix:	n/a
9	chr11:65408496-65408546	SKMC	muscle:	n/a
10	chr11:65415190-65415240	GM12878	blood:	n/a
11	chr11:65408496-65408546	PANC-1	pancreas:	n/a
12	chr11:65408429-65408479	SAEC	small airway:	n/a
13	chr11:65408028-65408078	SK-N-SH_RA	brain:	n/a
14	chr11:65409861-65409911	AoSMC	blood vessel:	n/a
15	chr11:65408496-65408546	HIPEpiC	eye:	n/a
16	chr11:65418265-65418315	CMK	blood:	n/a
17	chr11:65415190-65415240	PFSK-1	brain:	n/a
18	chr11:65408566-65408616	HEEpiC	esophagus:	n/a
19	chr11:65415190-65415240	HepG2	liver:	n/a
20	chr11:65415260-65415310	RPTEC	kidney:	n/a
21	chr11:65418265-65418315	K562	blood:	n/a
22	chr11:65408566-65408616	NHDF-neo	bronchial:	n/a
23	chr11:65415260-65415310	Caco-2	colon:	n/a
24	chr11:65408566-65408616	GM12892	blood:	n/a
25	chr11:65408445-65408495	T-47D	breast:	n/a
26	chr11:65416901-65416951	HEEpiC	esophagus:	n/a
27	chr11:65411895-65411945	ECC-1	luminal epithelium:	n/a
28	chr11:65415190-65415240	NHBE	bronchial:	n/a
29	chr11:65409861-65409911	A549	lung:	n/a
30	chr11:65408566-65408616	BE2_C	brain:	n/a
31	chr11:65420518-65420568	AG09309	skin:	n/a
32	chr11:65419955-65420005	H1-hESC	embryonic stem cell:	embryo
33	chr11:65418265-65418315	HIPEpiC	eye:	n/a
34	chr11:65414099-65414149	HRCEpiC	kidney:	n/a
35	chr11:65407399-65407449	ECC-1	luminal epithelium:	n/a
36	chr11:65419955-65420005	BJ	skin:	n/a
37	chr11:65410028-65410078	NH-A	brain:	n/a
38	chr11:65421839-65421889	MCF-7	breast:	n/a
39	chr11:65420184-65420234	HCT-116	colon:	n/a
40	chr11:65414099-65414149	HAEpiC	amniotic membrane:	n/a
41	chr11:65418265-65418315	ECC-1	luminal epithelium:	n/a
42	chr11:65408429-65408479	SK-N-SH	brain:	n/a
43	chr11:65408028-65408078	HRE	kidney:	n/a
44	chr11:65415190-65415240	Hela-S3	cervix:	n/a
45	chr11:65408429-65408479	GM12891	blood:	n/a
46	chr11:65407734-65407784	NB4	blood:	n/a
47	chr11:65415260-65415310	AoSMC	blood vessel:	n/a
48	chr11:65408429-65408479	NH-A	brain:	n/a
49	chr11:65414099-65414149	BJ	skin:	n/a
50	chr11:65410028-65410078	HCM	heart:	n/a

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:65344586..65346724-chr11:65420160..65422022,2	K562	blood:
2	chr11:65420366..65420866-chr3:183966119..183966804,2	HCT-116	colon:
3	chr11:65408552..65410690-chr11:65624171..65626866,2	K562	blood:
4	chr11:65418221..65420549-chr11:65478098..65480129,3	MCF-7	breast:
5	chr11:65412642..65414860-chr11:65428206..65431618,3	MCF-7	breast:
6	chr11:65419742..65420533-chr11:95523320..95524520,3	Hela-S3	cervix:
7	chr11:65264254..65266001-chr11:65419234..65421482,2	MCF-7	breast:
8	chr11:65420138..65422811-chr11:65618925..65621188,2	MCF-7	breast:
9	chr11:65266494..65268379-chr11:65418277..65420125,2	K562	blood:
10	chr11:65417859..65419451-chr11:65619864..65621650,2	K562	blood:
11	chr11:65317456..65320108-chr11:65409381..65411829,2	K562	blood:
12	chr11:65307370..65310814-chr11:65418617..65421444,3	MCF-7	breast:
13	chr11:65385247..65389337-chr11:65423497..65426805,3	MCF-7	breast:
14	chr11:65420193..65423664-chr11:65635632..65639454,3	K562	blood:
15	chr11:65418945..65421453-chr11:65436370..65438405,2	MCF-7	breast:
16	chr11:65420163..65422800-chr11:65623981..65626189,3	MCF-7	breast:
17	chr11:65322009..65324491-chr11:65418105..65419642,2	MCF-7	breast:
18	chr11:65416969..65422455-chr11:65556396..65561611,5	MCF-7	breast:
19	chr11:65344954..65347846-chr11:65406029..65407585,2	MCF-7	breast:
20	chr11:65342372..65345081-chr11:65416714..65420575,4	MCF-7	breast:
21	chr11:65423022..65424596-chr11:65624434..65626971,2	MCF-7	breast:
22	chr11:65420713..65423580-chr11:65469656..65472894,3	MCF-7	breast:
23	chr11:65405500..65407998-chr11:65624581..65626384,2	K562	blood:
24	chr11:65380332..65382692-chr11:65425044..65427777,2	MCF-7	breast:
25	chr11:65420223..65423099-chr11:65666498..65668631,2	MCF-7	breast:
26	chr11:65413332..65415260-chr11:65625154..65627683,2	K562	blood:
27	chr11:65418470..65421042-chr11:65625585..65628422,2	MCF-7	breast:
28	chr11:65292040..65294800-chr11:65419748..65421658,2	MCF-7	breast:
29	chr11:65418268..65419893-chr17:57915136..57916815,2	MCF-7	breast:
30	chr11:65419108..65420817-chr11:65475348..65477969,2	MCF-7	breast:
31	chr11:65341113..65343723-chr11:65418921..65421708,2	MCF-7	breast:
32	chr11:65419136..65421674-chr11:65489039..65492685,3	K562	blood:
33	chr11:65417983..65420194-chr11:65624167..65625889,2	K562	blood:
34	chr11:62608965..62609504-chr11:65420010..65420607,2	NB4	blood:
35	chr11:65338868..65341730-chr11:65418154..65420257,2	MCF-7	breast:
36	chr11:65406543..65408772-chr19:38780595..38783579,2	MCF-7	breast:
37	chr11:65342220..65345077-chr11:65403229..65406787,3	K562	blood:
38	chr11:65418780..65419598-chr11:118965786..118966465,2	NB4	blood:
39	chr11:65379754..65386537-chr11:65415130..65425067,26	MCF-7	breast:
40	chr11:65420051..65421664-chr11:65448870..65450855,2	K562	blood:
41	chr11:65420227..65422325-chr11:65623884..65626838,3	K562	blood:
42	chr11:65418965..65421526-chr11:65650310..65653991,3	MCF-7	breast:
43	chr11:65380696..65385200-chr11:65403578..65408941,10	MCF-7	breast:
44	chr1:67395640..67396470-chr11:65419548..65420158,2	Hela-S3	cervix:
45	chr11:65386206..65389364-chr11:65411627..65413342,3	MCF-7	breast:
46	chr11:65262283..65263978-chr11:65419665..65421629,2	K562	blood:
47	chr11:65417875..65421086-chr11:65638216..65642190,3	MCF-7	breast:
48	chr11:65408028..65411075-chr11:65624392..65627555,3	K562	blood:
49	chr11:65411140..65413150-chr11:65624736..65627560,2	MCF-7	breast:
50	chr11:65391929..65393580-chr11:65420697..65422749,2	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4489	chr11:65416668-65416688	MIMAT0019023

(count:10 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RELA	hsa-miR-124-3p	chr11:65421217-65421210
2	RELA	hsa-miR-320a	chr11:65421437-65421458
3	RELA	hsa-miR-7-5p	chr11:65421730-65421751
4	RELA	hsa-miR-7-5p	chr11:65421465-65421458
5	RELA	hsa-miR-124-3p	chr11:65421211-65421229
6	RELA	hsa-miR-373-3p	chr11:65421789-65421782
7	RELA	hsa-miR-324-5p	chr11:65423007-65423030
8	RELA	hsa-miR-373-3p	chr11:65421783-65421802
9	RELA	hsa-miR-373-3p	chr11:65421120-65421142
10	RELA	hsa-miR-7-5p	chr11:65421459-65421481

Variant related genes	Relation type
SIPA1	TF binding region
MIR4489	TF binding region
SIPA1	CpG island
MIR4489	CpG island
ENSG00000162300	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000144445	chromatin interactions
ENSG00000173039	chromatin interactions
ENSG00000198160	chromatin interactions
ENSG00000167642	chromatin interactions
ENSG00000172500	chromatin interactions
ENSG00000173327	chromatin interactions
ENSG00000172977	chromatin interactions
ENSG00000077458	chromatin interactions
ENSG00000197136	chromatin interactions
ENSG00000175592	chromatin interactions
ENSG00000146670	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000263530	chromatin interactions
ENSG00000175550	chromatin interactions
ENSG00000142186	chromatin interactions
ENSG00000175573	chromatin interactions
ENSG00000166037	chromatin interactions
ENSG00000176973	chromatin interactions
ENSG00000255120	chromatin interactions
ENSG00000106617	chromatin interactions
ENSG00000172922	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000173442	chromatin interactions
ENSG00000172638	chromatin interactions
ENSG00000172818	chromatin interactions
ENSG00000168056	chromatin interactions
ENSG00000214160	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000231294	chromatin interactions

Extended variants
information (count: 808 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:808 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2509948	chr11:65406393-65406394	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs111717905	chr11:65406441-65406442	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs557276084	chr11:65406442-65406443	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs577439492	chr11:65406443-65406444	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs34550521	chr11:65406486-65406487	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs115504511	chr11:65406492-65406493	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs559685837	chr11:65406506-65406507	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs528525274	chr11:65406507-65406508	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs542342157	chr11:65406541-65406542	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs562207610	chr11:65406546-65406547	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs373738285	chr11:65406580-65406581	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs531040115	chr11:65406583-65406584	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs142885436	chr11:65406621-65406622	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs570566883	chr11:65406641-65406642	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs533237750	chr11:65406648-65406649	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs546604031	chr11:65406711-65406712	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs566126672	chr11:65406739-65406740	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs113707523	chr11:65406803-65406804	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs535119613	chr11:65406817-65406818	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs11825475	chr11:65406826-65406827	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs3782086	chr11:65406869-65406870	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs145511066	chr11:65406876-65406877	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs11827943	chr11:65406938-65406939	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs71455772	chr11:65407031-65407032	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs571212770	chr11:65407037-65407038	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs577400335	chr11:65407138-65407139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs370471099	chr11:65407143-65407144	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs372457678	chr11:65407188-65407189	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs553438928	chr11:65407218-65407219	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs543114419	chr11:65407219-65407220	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs542207656	chr11:65407224-65407225	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs562083249	chr11:65407225-65407226	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs575770977	chr11:65407256-65407257	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs558253601	chr11:65407306-65407307	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs564283314	chr11:65407317-65407318	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs577677889	chr11:65407329-65407330	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs111369620	chr11:65407349-65407350	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs546862858	chr11:65407350-65407351	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs559974291	chr11:65407399-65407400	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs11227246	chr11:65407410-65407411	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs548542127	chr11:65407441-65407442	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs568528883	chr11:65407503-65407504	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs537054718	chr11:65407513-65407514	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs79266944	chr11:65407558-65407559	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs146520124	chr11:65407598-65407599	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs551216831	chr11:65407621-65407622	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs571023964	chr11:65407657-65407658	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs184817921	chr11:65407768-65407769	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs201859639	chr11:65407839-65407840	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs556886946	chr11:65407852-65407853	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:1933 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65400800-65406600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:65405000-65406400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:65405000-65406400	Enhancers	Fetal Brain Male	brain
4	chr11:65405000-65406400	Flanking Active TSS	Pancreas	Pancrea
5	chr11:65405000-65406600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:65405000-65406600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr11:65405000-65406600	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr11:65405200-65406400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
9	chr11:65405200-65406400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:65405200-65406400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:65405200-65406600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr11:65405200-65406600	Flanking Active TSS	Liver	Liver
13	chr11:65405200-65406600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr11:65405200-65406600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr11:65405200-65406600	Active TSS	HSMMtube	muscle
16	chr11:65405200-65406600	Flanking Active TSS	NHEK	skin
17	chr11:65405200-65406800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:65405200-65406800	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr11:65405200-65409600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr11:65405200-65409600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr11:65405400-65406400	Active TSS	Fetal Kidney	kidney
22	chr11:65405400-65406400	Flanking Active TSS	HMEC	breast
23	chr11:65405400-65406600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:65405400-65406600	Active TSS	Right Atrium	heart
25	chr11:65405400-65406600	Active TSS	Small Intestine	intestine
26	chr11:65405400-65406600	Flanking Active TSS	Dnd41	blood
27	chr11:65405400-65407000	Active TSS	Rectal Smooth Muscle	rectum
28	chr11:65405400-65407200	Active TSS	Colon Smooth Muscle	Colon
29	chr11:65405600-65406400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr11:65405600-65406400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr11:65405600-65406400	Flanking Active TSS	Stomach Mucosa	stomach
32	chr11:65405600-65406600	Flanking Active TSS	Placenta	Placenta
33	chr11:65405600-65406600	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr11:65405600-65406600	Flanking Active TSS	HUVEC	blood vessel
35	chr11:65405600-65407800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
36	chr11:65405800-65406400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:65405800-65406400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr11:65405800-65406400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr11:65405800-65406400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:65405800-65406400	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr11:65405800-65406400	Flanking Active TSS	Osteobl	bone
42	chr11:65405800-65406600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:65405800-65406600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:65405800-65406600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:65405800-65406600	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr11:65405800-65406600	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr11:65405800-65406600	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr11:65405800-65406600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr11:65405800-65406600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr11:65405800-65406600	Flanking Active TSS	Fetal Lung	lung

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