Variant report

Variant	nsv897752
Chromosome Location	chr11:65405300-65421476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1687)
CpG islands
(count:2320)
Chromatin interactive
region (count:68)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:6)

(count:1687 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

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	chr11:65419992-65420844	GM12878	blood:	n/a	n/a
4	ATF2	chr11:65407033-65407464	GM12878	blood:	n/a	n/a
5	ATF2	chr11:65420102-65421054	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:65405265-65406275	GM12878	blood:	n/a	n/a
7	ATF2	chr11:65406922-65407989	GM12878	blood:	n/a	n/a
8	ATF2	chr11:65419693-65421079	GM12878	blood:	n/a	n/a
9	ATF2	chr11:65419976-65420704	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr11:65420126-65420903	A549	lung:	n/a	n/a
11	ATF3	chr11:65405178-65405560	A549	lung:	n/a	n/a
12	BACH1	chr11:65405881-65406006	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr11:65414311-65415087	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr11:65420181-65420358	K562	blood:	n/a	n/a
15	BACH1	chr11:65419958-65420769	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr11:65407055-65407416	GM12878	blood:	n/a	n/a
17	BCL11A	chr11:65407656-65408061	GM12878	blood:	n/a	n/a
18	BCL11A	chr11:65407663-65407958	GM12878	blood:	n/a	n/a
19	BCL11A	chr11:65407047-65407452	GM12878	blood:	n/a	n/a
20	BCL11A	chr11:65406995-65407516	GM12878	blood:	n/a	n/a
21	BCL3	chr11:65405417-65406285	A549	lung:	n/a	chr11:65405481-65405494
22	BCL3	chr11:65405338-65406562	GM12878	blood:	n/a	chr11:65405481-65405494 chr11:65406340-65406349
23	BCL3	chr11:65419711-65421416	A549	lung:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
24	BCL3	chr11:65405219-65406202	A549	lung:	n/a	chr11:65405481-65405494
25	BCL3	chr11:65419810-65420983	GM12878	blood:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
26	BCL3	chr11:65419863-65420644	GM12878	blood:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
27	BCL3	chr11:65419906-65421427	A549	lung:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
28	BCL3	chr11:65414561-65414868	A549	lung:	n/a	chr11:65414575-65414584 chr11:65414817-65414830
29	BCL3	chr11:65407045-65407424	GM12878	blood:	n/a	n/a
30	BCLAF1	chr11:65405344-65405991	GM12878	blood:	n/a	chr11:65405481-65405494
31	BCLAF1	chr11:65407031-65407756	GM12878	blood:	n/a	n/a
32	BCLAF1	chr11:65407022-65408134	GM12878	blood:	n/a	n/a
33	BCLAF1	chr11:65420109-65421134	GM12878	blood:	n/a	chr11:65420395-65420404
34	BCLAF1	chr11:65419995-65421359	GM12878	blood:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
35	BHLHE40	chr11:65405938-65406242	K562	blood:	n/a	n/a
36	BHLHE40	chr11:65419312-65419440	K562	blood:	n/a	n/a
37	BHLHE40	chr11:65419868-65420655	GM12878	blood:	n/a	chr11:65420159-65420175
38	BHLHE40	chr11:65419779-65420228	K562	blood:	n/a	chr11:65420159-65420175
39	BHLHE40	chr11:65405616-65406435	GM12878	blood:	n/a	n/a
40	BHLHE40	chr11:65405294-65405573	K562	blood:	n/a	n/a
41	BHLHE40	chr11:65406999-65408049	GM12878	blood:	n/a	n/a
42	BRCA1	chr11:65420644-65420936	HepG2	liver:	n/a	n/a
43	BRCA1	chr11:65420618-65420914	GM12878	blood:	n/a	n/a
44	BRCA1	chr11:65407148-65407557	GM12878	blood:	n/a	n/a
45	BRCA1	chr11:65406104-65406304	GM12878	blood:	n/a	n/a
46	BRCA1	chr11:65420188-65420735	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr11:65419878-65420416	GM12878	blood:	n/a	n/a
48	CBX3	chr11:65405180-65406426	K562	blood:	n/a	n/a
49	CBX3	chr11:65419086-65420752	K562	blood:	n/a	n/a
50	CCNT2	chr11:65419811-65420631	K562	blood:	n/a	chr11:65420157-65420166 chr11:65420038-65420047

(count:2320 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65405268-65405318	SK-N-SH	brain:	n/a
2	chr11:65414261-65414311	ECC-1	luminal epithelium:	n/a
3	chr11:65405268-65405318	SK-N-SH	brain:	n/a
4	chr11:65414261-65414311	ECC-1	luminal epithelium:	n/a
5	chr11:65408496-65408546	ovcar-3	ovarian:	n/a
6	chr11:65405388-65405438	HUVEC	blood vessel:	n/a
7	chr11:65414099-65414149	BJ	skin:	n/a
8	chr11:65407734-65407784	PANC-1	pancreas:	n/a
9	chr11:65414099-65414149	HRE	kidney:	n/a
10	chr11:65405268-65405318	NB4	blood:	n/a
11	chr11:65415260-65415310	AG10803	skin:	n/a
12	chr11:65420518-65420568	HCF	heart:	n/a
13	chr11:65411895-65411945	HEEpiC	esophagus:	n/a
14	chr11:65408445-65408495	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:65418265-65418315	ovcar-3	ovarian:	n/a
16	chr11:65410126-65410176	SKMC	muscle:	n/a
17	chr11:65418265-65418315	PrEC	prostate:	n/a
18	chr11:65405268-65405318	HNPCEpiC	eye:	n/a
19	chr11:65405674-65405724	HCPEpiC	choroid plexus:	n/a
20	chr11:65409760-65409810	ovcar-3	ovarian:	n/a
21	chr11:65420518-65420568	LNCaP	prostate:	n/a
22	chr11:65416901-65416951	HCPEpiC	choroid plexus:	n/a
23	chr11:65414099-65414149	ProgFib	skin:	n/a
24	chr11:65412579-65412629	BE2_C	brain:	n/a
25	chr11:65414099-65414149	K562	blood:	n/a
26	chr11:65410028-65410078	T-47D	breast:	n/a
27	chr11:65405388-65405438	NHBE	bronchial:	n/a
28	chr11:65414099-65414149	A549	lung:	n/a
29	chr11:65407734-65407784	NHBE	bronchial:	n/a
30	chr11:65408429-65408479	SAEC	small airway:	n/a
31	chr11:65405484-65405534	HCT-116	colon:	n/a
32	chr11:65416901-65416951	GM06990	blood:	n/a
33	chr11:65405502-65405552	AoSMC	blood vessel:	n/a
34	chr11:65414413-65414463	GM12878	blood:	n/a
35	chr11:65420184-65420234	NT2-D1	testis:	n/a
36	chr11:65405351-65405401	GM12891	blood:	n/a
37	chr11:65409861-65409911	K562	blood:	n/a
38	chr11:65410126-65410176	HIPEpiC	eye:	n/a
39	chr11:65405760-65405810	HRE	kidney:	n/a
40	chr11:65408566-65408616	AG09309	skin:	n/a
41	chr11:65409760-65409810	LNCaP	prostate:	n/a
42	chr11:65416901-65416951	Hepatocyte	liver:	n/a
43	chr11:65414413-65414463	HAEpiC	amniotic membrane:	n/a
44	chr11:65406140-65406190	HL-60	blood:	n/a
45	chr11:65405268-65405318	PANC-1	pancreas:	n/a
46	chr11:65414099-65414149	SAEC	small airway:	n/a
47	chr11:65405502-65405552	PFSK-1	brain:	n/a
48	chr11:65414413-65414463	BJ	skin:	n/a
49	chr11:65405466-65405516	Jurkat	blood:	n/a
50	chr11:65414261-65414311	SK-N-SH_RA	brain:	n/a

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:65420227..65422325-chr11:65623884..65626838,3	K562	blood:
2	chr11:65406543..65408772-chr19:38780595..38783579,2	MCF-7	breast:
3	chr11:65379754..65386537-chr11:65415130..65425067,26	MCF-7	breast:
4	chr11:65412642..65414860-chr11:65428206..65431618,3	MCF-7	breast:
5	chr11:65401684..65407000-chr11:65623220..65627704,6	K562	blood:
6	chr11:65262283..65263978-chr11:65419665..65421629,2	K562	blood:
7	chr11:65341380..65343609-chr11:65408104..65410405,2	MCF-7	breast:
8	chr11:65307370..65310814-chr11:65418617..65421444,3	MCF-7	breast:
9	chr11:65419831..65420335-chr2:211035639..211036479,2	HCT-116	colon:
10	chr11:65403669..65406096-chr11:65480097..65481780,2	MCF-7	breast:
11	chr11:65264254..65266001-chr11:65419234..65421482,2	MCF-7	breast:
12	chr11:65405500..65407998-chr11:65624581..65626384,2	K562	blood:
13	chr11:65419742..65420533-chr11:95523320..95524520,3	Hela-S3	cervix:
14	chr11:65353979..65355794-chr11:65410374..65412604,2	MCF-7	breast:
15	chr11:65381837..65384874-chr11:65408944..65413829,9	MCF-7	breast:
16	chr11:65419108..65420817-chr11:65475348..65477969,2	MCF-7	breast:
17	chr11:65420193..65423664-chr11:65635632..65639454,3	K562	blood:
18	chr11:65391929..65393580-chr11:65420697..65422749,2	MCF-7	breast:
19	chr11:65187300..65188965-chr11:65420277..65421827,2	MCF-7	breast:
20	chr11:65416969..65422455-chr11:65556396..65561611,5	MCF-7	breast:
21	chr11:62608965..62609504-chr11:65420010..65420607,2	NB4	blood:
22	chr11:65408552..65410690-chr11:65624171..65626866,2	K562	blood:
23	chr11:65411140..65413150-chr11:65624736..65627560,2	MCF-7	breast:
24	chr1:67395640..67396470-chr11:65419548..65420158,2	Hela-S3	cervix:
25	chr11:65417859..65419451-chr11:65619864..65621650,2	K562	blood:
26	chr11:65418268..65419893-chr17:57915136..57916815,2	MCF-7	breast:
27	chr11:65417983..65420194-chr11:65624167..65625889,2	K562	blood:
28	chr11:65336849..65339116-chr11:65404161..65406035,2	K562	blood:
29	chr11:65380696..65385200-chr11:65403578..65408941,10	MCF-7	breast:
30	chr11:65408028..65411075-chr11:65624392..65627555,3	K562	blood:
31	chr11:65419749..65421544-chr11:65619429..65621051,2	K562	blood:
32	chr11:65395794..65396338-chr11:65408470..65409118,2	MCF-7	breast:
33	chr11:65342220..65345077-chr11:65403229..65406787,3	K562	blood:
34	chr11:65419136..65421674-chr11:65489039..65492685,3	K562	blood:
35	chr11:65420138..65422811-chr11:65618925..65621188,2	MCF-7	breast:
36	chr11:65420163..65422800-chr11:65623981..65626189,3	MCF-7	breast:
37	chr11:65418470..65421042-chr11:65625585..65628422,2	MCF-7	breast:
38	chr11:64851522..64853980-chr11:65411333..65413797,2	K562	blood:
39	chr11:65322009..65324491-chr11:65418105..65419642,2	MCF-7	breast:
40	chr11:65413332..65415260-chr11:65625154..65627683,2	K562	blood:
41	chr11:65418965..65421526-chr11:65650310..65653991,3	MCF-7	breast:
42	chr11:65311946..65314284-chr11:65416620..65419973,3	MCF-7	breast:
43	chr11:65420046..65422786-chr11:65626967..65629208,2	K562	blood:
44	chr11:65417875..65421086-chr11:65638216..65642190,3	MCF-7	breast:
45	chr11:65292040..65294800-chr11:65419748..65421658,2	MCF-7	breast:
46	chr11:65265497..65267860-chr11:65403489..65405848,3	K562	blood:
47	chr11:65419979..65422257-chr11:65486122..65488119,3	K562	blood:
48	chr11:65419250..65422414-chr11:65685028..65687614,3	MCF-7	breast:
49	chr11:65266494..65268379-chr11:65418277..65420125,2	K562	blood:
50	chr11:65317456..65320108-chr11:65409381..65411829,2	K562	blood:

No data

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

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RELA	hsa-miR-124-3p	chr11:65421211-65421229
2	RELA	hsa-miR-7-5p	chr11:65421459-65421481
3	RELA	hsa-miR-320a	chr11:65421437-65421458
4	RELA	hsa-miR-373-3p	chr11:65421120-65421142
5	RELA	hsa-miR-7-5p	chr11:65421465-65421458
6	RELA	hsa-miR-124-3p	chr11:65421217-65421210

Variant related genes	Relation type
MIR4489	TF binding region
SIPA1	TF binding region
MIR4489	CpG island
SIPA1	CpG island
ENSG00000144445	chromatin interactions
ENSG00000167642	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000175592	chromatin interactions
ENSG00000175550	chromatin interactions
ENSG00000198160	chromatin interactions
ENSG00000077458	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000142186	chromatin interactions
ENSG00000173442	chromatin interactions
ENSG00000255120	chromatin interactions
ENSG00000172500	chromatin interactions
ENSG00000168056	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000146670	chromatin interactions
ENSG00000162300	chromatin interactions
ENSG00000172638	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000173465	chromatin interactions
ENSG00000173327	chromatin interactions
ENSG00000172818	chromatin interactions
ENSG00000166037	chromatin interactions
ENSG00000172922	chromatin interactions
ENSG00000106617	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000172977	chromatin interactions
ENSG00000231294	chromatin interactions
ENSG00000263530	chromatin interactions
ENSG00000173039	chromatin interactions
ENSG00000214160	chromatin interactions
ENSG00000197136	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000176973	chromatin interactions
ENSG00000175573	chromatin interactions
ENSG00000260233	chromatin interactions

Extended variants
information (count: 663 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs931127	chr11:65405300-65405301	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550094444	chr11:65405337-65405338	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs72556579	chr11:65405376-65405377	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs532584304	chr11:65405377-65405378	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs72558338	chr11:65405417-65405418	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs192383047	chr11:65405462-65405463	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs185703892	chr11:65405485-65405486	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs2306362	chr11:65405510-65405511	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568278181	chr11:65405521-65405522	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs537328386	chr11:65405533-65405534	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs371202730	chr11:65405551-65405552	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs563720388	chr11:65405552-65405553	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs575600716	chr11:65405580-65405581	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs576762873	chr11:65405581-65405582	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs56343805	chr11:65405596-65405597	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2306363	chr11:65405600-65405601	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs572865467	chr11:65405603-65405604	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs4930156	chr11:65405699-65405700	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs554725685	chr11:65405766-65405767	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs574719461	chr11:65405781-65405782	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs115541111	chr11:65405851-65405852	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs34679731	chr11:65405854-65405855	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs372220174	chr11:65405920-65405921	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs532703779	chr11:65405931-65405932	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs571339919	chr11:65405938-65405939	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs369822488	chr11:65405952-65405953	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs559511157	chr11:65405975-65405976	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs528563076	chr11:65406010-65406011	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs548737070	chr11:65406041-65406042	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs566148429	chr11:65406112-65406113	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs375645884	chr11:65406120-65406121	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs568241319	chr11:65406148-65406149	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs373551872	chr11:65406174-65406175	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs7944860	chr11:65406179-65406180	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs570675699	chr11:65406180-65406181	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs367659827	chr11:65406192-65406193	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs145742578	chr11:65406195-65406196	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs570368343	chr11:65406208-65406209	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs552897692	chr11:65406215-65406216	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs536153983	chr11:65406231-65406232	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs566378338	chr11:65406263-65406264	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs113404321	chr11:65406274-65406275	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs116314187	chr11:65406324-65406325	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs549351378	chr11:65406354-65406355	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs34462081	chr11:65406392-65406393	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	n/a
46	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
47	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
48	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
49	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
50	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

Variant related diseases (count:109)

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
Non-syndromic sensorineural hearing loss	22037309	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:1982 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

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	chr11:65403000-65405600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:65403800-65405400	Genic enhancers	Placenta	Placenta
4	chr11:65404400-65405400	Enhancers	Right Atrium	heart
5	chr11:65404400-65405400	Flanking Active TSS	Hela-S3	cervix
6	chr11:65404400-65405400	Enhancers	HMEC	breast
7	chr11:65404600-65405400	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr11:65404600-65405600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:65404600-65405600	Weak transcription	Ovary	ovary
10	chr11:65404600-65405600	Enhancers	Stomach Mucosa	stomach
11	chr11:65404600-65405600	Enhancers	HUVEC	blood vessel
12	chr11:65404800-65405400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:65404800-65405400	Flanking Active TSS	HepG2	liver
14	chr11:65404800-65405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:65404800-65405600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:65404800-65405600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:65404800-65405600	Enhancers	NH-A	brain
18	chr11:65405000-65405400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:65405000-65405400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:65405000-65405400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:65405000-65405400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:65405000-65405400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:65405000-65405400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr11:65405000-65405400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr11:65405000-65405400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr11:65405000-65405400	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr11:65405000-65405400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr11:65405000-65405400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr11:65405000-65405400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:65405000-65405400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:65405000-65405400	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr11:65405000-65405400	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr11:65405000-65405400	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr11:65405000-65405400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr11:65405000-65405400	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr11:65405000-65405400	Flanking Active TSS	Fetal Lung	lung
37	chr11:65405000-65405400	Enhancers	Psoas Muscle	Psoas
38	chr11:65405000-65405400	Flanking Active TSS	A549	lung
39	chr11:65405000-65405400	Flanking Active TSS	K562	blood
40	chr11:65405000-65405400	Flanking Active TSS	Osteobl	bone
41	chr11:65405000-65405600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:65405000-65405600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:65405000-65405600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr11:65405000-65405600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr11:65405000-65405600	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr11:65405000-65406000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
47	chr11:65405000-65406000	Active TSS	Gastric	stomach
48	chr11:65405000-65406400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:65405000-65406400	Enhancers	Fetal Brain Male	brain
50	chr11:65405000-65406400	Flanking Active TSS	Pancreas	Pancrea

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