Variant report

Variant	esv1831135
Chromosome Location	chr11:65387352-65420872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2338)
CpG islands
(count:3053)
Chromatin interactive
region (count:92)
LncRNA
region (count:0)
Mature miRNA
region (count: 3)
miRNA target
sites (count:0)

(count:2338 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

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	ARID3A	chr11:65403815-65403855	K562	blood:	n/a	n/a
3	ATF1	chr11:65419291-65419670	K562	blood:	n/a	n/a
4	ATF2	chr11:65419976-65420704	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr11:65419693-65421079	GM12878	blood:	n/a	n/a
6	ATF2	chr11:65407033-65407464	GM12878	blood:	n/a	n/a
7	ATF2	chr11:65405265-65406275	GM12878	blood:	n/a	n/a
8	ATF2	chr11:65420102-65421054	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr11:65419992-65420844	GM12878	blood:	n/a	n/a
10	ATF2	chr11:65406922-65407989	GM12878	blood:	n/a	n/a
11	ATF3	chr11:65405178-65405560	A549	lung:	n/a	n/a
12	ATF3	chr11:65420126-65420903	A549	lung:	n/a	n/a
13	BACH1	chr11:65403690-65403698	K562	blood:	n/a	n/a
14	BACH1	chr11:65405881-65406006	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr11:65420181-65420358	K562	blood:	n/a	n/a
16	BACH1	chr11:65414311-65415087	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr11:65393608-65393677	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr11:65419958-65420769	H1-hESC	embryonic stem cell:	n/a	n/a
19	BATF	chr11:65407055-65407416	GM12878	blood:	n/a	n/a
20	BCL11A	chr11:65407047-65407452	GM12878	blood:	n/a	n/a
21	BCL11A	chr11:65406995-65407516	GM12878	blood:	n/a	n/a
22	BCL11A	chr11:65407663-65407958	GM12878	blood:	n/a	n/a
23	BCL11A	chr11:65407656-65408061	GM12878	blood:	n/a	n/a
24	BCL3	chr11:65419711-65421416	A549	lung:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
25	BCL3	chr11:65405219-65406202	A549	lung:	n/a	chr11:65405481-65405494
26	BCL3	chr11:65419810-65420983	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	chr11:65405338-65406562	GM12878	blood:	n/a	chr11:65405481-65405494 chr11:65406340-65406349
30	BCL3	chr11:65419863-65420644	GM12878	blood:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
31	BCL3	chr11:65407045-65407424	GM12878	blood:	n/a	n/a
32	BCL3	chr11:65405417-65406285	A549	lung:	n/a	chr11:65405481-65405494
33	BCLAF1	chr11:65405344-65405991	GM12878	blood:	n/a	chr11:65405481-65405494
34	BCLAF1	chr11:65407022-65408134	GM12878	blood:	n/a	n/a
35	BCLAF1	chr11:65419995-65421359	GM12878	blood:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
36	BCLAF1	chr11:65420109-65421134	GM12878	blood:	n/a	chr11:65420395-65420404
37	BCLAF1	chr11:65407031-65407756	GM12878	blood:	n/a	n/a
38	BHLHE40	chr11:65419312-65419440	K562	blood:	n/a	n/a
39	BHLHE40	chr11:65403577-65403992	K562	blood:	n/a	n/a
40	BHLHE40	chr11:65405294-65405573	K562	blood:	n/a	n/a
41	BHLHE40	chr11:65393530-65393724	GM12878	blood:	n/a	n/a
42	BHLHE40	chr11:65393520-65393652	K562	blood:	n/a	n/a
43	BHLHE40	chr11:65405938-65406242	K562	blood:	n/a	n/a
44	BHLHE40	chr11:65419868-65420655	GM12878	blood:	n/a	chr11:65420159-65420175
45	BHLHE40	chr11:65405616-65406435	GM12878	blood:	n/a	n/a
46	BHLHE40	chr11:65406999-65408049	GM12878	blood:	n/a	n/a
47	BHLHE40	chr11:65419779-65420228	K562	blood:	n/a	chr11:65420159-65420175
48	BRCA1	chr11:65407148-65407557	GM12878	blood:	n/a	n/a
49	BRCA1	chr11:65406104-65406304	GM12878	blood:	n/a	n/a
50	BRCA1	chr11:65420618-65420914	GM12878	blood:	n/a	n/a

(count:3053 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65419955-65420005	GM06990	blood:	n/a
2	chr11:65414413-65414463	GM12892	blood:	n/a
3	chr11:65408445-65408495	HEEpiC	esophagus:	n/a
4	chr11:65419955-65420005	GM06990	blood:	n/a
5	chr11:65414413-65414463	GM12892	blood:	n/a
6	chr11:65408445-65408495	HEEpiC	esophagus:	n/a
7	chr11:65405903-65405953	AG04450	lung:	fetal
8	chr11:65407399-65407449	MCF-7	breast:	n/a
9	chr11:65412579-65412629	HEK293	kidney:	embryo
10	chr11:65399260-65399310	Jurkat	blood:	n/a
11	chr11:65419955-65420005	HepG2	liver:	n/a
12	chr11:65405388-65405438	PANC-1	pancreas:	n/a
13	chr11:65405484-65405534	A549	lung:	n/a
14	chr11:65407399-65407449	NB4	blood:	n/a
15	chr11:65408566-65408616	HCF	heart:	n/a
16	chr11:65401703-65401753	A549	lung:	n/a
17	chr11:65401703-65401753	GM19239	blood:	n/a
18	chr11:65392934-65392984	NB4	blood:	n/a
19	chr11:65402736-65402786	Caco-2	colon:	n/a
20	chr11:65414261-65414311	BJ	skin:	n/a
21	chr11:65404459-65404509	NHDF-neo	bronchial:	n/a
22	chr11:65407399-65407449	BJ	skin:	n/a
23	chr11:65408429-65408479	HEK293	kidney:	embryo
24	chr11:65405351-65405401	MCF10A-Er-Src	breast:	n/a
25	chr11:65419955-65420005	ECC-1	luminal epithelium:	n/a
26	chr11:65408566-65408616	HEEpiC	esophagus:	n/a
27	chr11:65405903-65405953	ovcar-3	ovarian:	n/a
28	chr11:65402908-65402958	Caco-2	colon:	n/a
29	chr11:65418265-65418315	PFSK-1	brain:	n/a
30	chr11:65411895-65411945	ECC-1	luminal epithelium:	n/a
31	chr11:65410126-65410176	HNPCEpiC	eye:	n/a
32	chr11:65405760-65405810	HIPEpiC	eye:	n/a
33	chr11:65405388-65405438	Hepatocyte	liver:	n/a
34	chr11:65407734-65407784	Hela-S3	cervix:	n/a
35	chr11:65412579-65412629	A549	lung:	n/a
36	chr11:65408496-65408546	HCPEpiC	choroid plexus:	n/a
37	chr11:65392829-65392879	AG04450	lung:	fetal
38	chr11:65415260-65415310	RPTEC	kidney:	n/a
39	chr11:65399260-65399310	HepG2	liver:	n/a
40	chr11:65406154-65406204	SKMC	muscle:	n/a
41	chr11:65405903-65405953	NH-A	brain:	n/a
42	chr11:65415190-65415240	BE2_C	brain:	n/a
43	chr11:65405492-65405542	Hela-S3	cervix:	n/a
44	chr11:65416901-65416951	MCF-7	breast:	n/a
45	chr11:65403161-65403211	LNCaP	prostate:	n/a
46	chr11:65392916-65392966	NH-A	brain:	n/a
47	chr11:65399260-65399310	SKMC	muscle:	n/a
48	chr11:65393389-65393439	CMK	blood:	n/a
49	chr11:65399260-65399310	K562	blood:	n/a
50	chr11:65408429-65408479	SKMC	muscle:	n/a

(count:92 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:65392904..65393561-chr11:65585388..65586156,2	MCF-7	breast:
2	chr11:65311946..65314284-chr11:65416620..65419973,3	MCF-7	breast:
3	chr11:65408552..65410690-chr11:65624171..65626866,2	K562	blood:
4	chr11:65419831..65420335-chr2:211035639..211036479,2	HCT-116	colon:
5	chr11:65393143..65394089-chr11:65473682..65474207,3	MCF-7	breast:
6	chr11:65319428..65321509-chr11:65390618..65393221,2	MCF-7	breast:
7	chr11:65292040..65294800-chr11:65419748..65421658,2	MCF-7	breast:
8	chr11:65395794..65396338-chr11:65408470..65409118,2	MCF-7	breast:
9	chr11:65394604..65399186-chr11:65411487..65416339,5	MCF-7	breast:
10	chr11:65380696..65385200-chr11:65403578..65408941,10	MCF-7	breast:
11	chr11:65397945..65399959-chr11:65620228..65622246,2	K562	blood:
12	chr11:65420366..65420866-chr3:183966119..183966804,2	HCT-116	colon:
13	chr11:65418945..65421453-chr11:65436370..65438405,2	MCF-7	breast:
14	chr11:65266424..65268793-chr11:65386663..65388742,2	K562	blood:
15	chr11:65400163..65404871-chr11:65428865..65432129,6	MCF-7	breast:
16	chr11:65264254..65266001-chr11:65419234..65421482,2	MCF-7	breast:
17	chr11:65395794..65396338-chr11:65408470..65409118,2	MCF-7	breast:
18	chr11:65411140..65413150-chr11:65624736..65627560,2	MCF-7	breast:
19	chr11:65416969..65422455-chr11:65556396..65561611,5	MCF-7	breast:
20	chr11:65420713..65423580-chr11:65469656..65472894,3	MCF-7	breast:
21	chr11:65408028..65411075-chr11:65624392..65627555,3	K562	blood:
22	chr11:65420046..65422786-chr11:65626967..65629208,2	K562	blood:
23	chr11:65401684..65404221-chr11:65623185..65625956,3	K562	blood:
24	chr11:65417983..65420194-chr11:65624167..65625889,2	K562	blood:
25	chr11:65342372..65345081-chr11:65416714..65420575,4	MCF-7	breast:
26	chr11:65419136..65421674-chr11:65489039..65492685,3	K562	blood:
27	chr11:65381837..65384874-chr11:65408944..65413829,9	MCF-7	breast:
28	chr11:65399412..65402464-chr11:65478309..65480936,3	MCF-7	breast:
29	chr11:65341113..65343723-chr11:65418921..65421708,2	MCF-7	breast:
30	chr11:64851522..64853980-chr11:65411333..65413797,2	K562	blood:
31	chr11:65324365..65326095-chr11:65402996..65405366,2	K562	blood:
32	chr11:65420138..65422811-chr11:65618925..65621188,2	MCF-7	breast:
33	chr11:65418268..65419893-chr17:57915136..57916815,2	MCF-7	breast:
34	chr11:65265497..65267860-chr11:65403489..65405848,3	K562	blood:
35	chr11:65307370..65310814-chr11:65418617..65421444,3	MCF-7	breast:
36	chr11:65379754..65386537-chr11:65415130..65425067,26	MCF-7	breast:
37	chr11:62608965..62609504-chr11:65420010..65420607,2	NB4	blood:
38	chr11:65404733..65406830-chr11:65478478..65481431,2	K562	blood:
39	chr11:65266494..65268379-chr11:65418277..65420125,2	K562	blood:
40	chr11:65322009..65324491-chr11:65418105..65419642,2	MCF-7	breast:
41	chr1:67395640..67396470-chr11:65419548..65420158,2	Hela-S3	cervix:
42	chr11:65417875..65421086-chr11:65638216..65642190,3	MCF-7	breast:
43	chr11:65386057..65388791-chr11:65767890..65770632,2	K562	blood:
44	chr11:65420051..65421664-chr11:65448870..65450855,2	K562	blood:
45	chr11:65386206..65389364-chr11:65411627..65413342,3	MCF-7	breast:
46	chr11:65353979..65355794-chr11:65410374..65412604,2	MCF-7	breast:
47	chr11:65420223..65423099-chr11:65666498..65668631,2	MCF-7	breast:
48	chr11:65403669..65406096-chr11:65480097..65481780,2	MCF-7	breast:
49	chr11:65342220..65345077-chr11:65403229..65406787,3	K562	blood:
50	chr11:65419979..65422257-chr11:65486122..65488119,3	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4690-3p	chr11:65403819-65403839	MIMAT0019780
hsa-miR-4489	chr11:65416668-65416688	MIMAT0019023
hsa-miR-4690-5p	chr11:65403781-65403802	MIMAT0019779

No data

Variant related genes	Relation type
MIR4489	TF binding region
PCNXL3	TF binding region
MIR4690	TF binding region
SIPA1	TF binding region
MAP3K11	TF binding region
MIR4489	CpG island
PCNXL3	CpG island
MIR4690	CpG island
SIPA1	CpG island
MAP3K11	CpG island
ENSG00000214160	chromatin interactions
ENSG00000176973	chromatin interactions
ENSG00000167642	chromatin interactions
ENSG00000266041	chromatin interactions
ENSG00000255120	chromatin interactions
ENSG00000077458	chromatin interactions
ENSG00000254470	chromatin interactions
ENSG00000162300	chromatin interactions
ENSG00000142186	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000265874	chromatin interactions
ENSG00000173442	chromatin interactions
ENSG00000172500	chromatin interactions
ENSG00000197136	chromatin interactions
ENSG00000263530	chromatin interactions
ENSG00000168056	chromatin interactions
ENSG00000173039	chromatin interactions
ENSG00000106617	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000213445	chromatin interactions
ENSG00000166037	chromatin interactions
ENSG00000231294	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000173465	chromatin interactions
ENSG00000198160	chromatin interactions
ENSG00000172922	chromatin interactions
ENSG00000175334	chromatin interactions
ENSG00000146670	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000172818	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000175376	chromatin interactions
ENSG00000260233	chromatin interactions
ENSG00000173327	chromatin interactions
ENSG00000175592	chromatin interactions
ENSG00000172638	chromatin interactions
ENSG00000172977	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000175573	chromatin interactions
ENSG00000175550	chromatin interactions
ENSG00000175827	chromatin interactions
ENSG00000144445	chromatin interactions

Extended variants
information (count: 1519 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:1519 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370064689	chr11:65387354-65387355	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs373103309	chr11:65387357-65387358	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs61744384	chr11:65387378-65387379	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs367864559	chr11:65387396-65387397	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs371340201	chr11:65387411-65387412	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs376267749	chr11:65387420-65387421	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs559719105	chr11:65387421-65387422	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs139785423	chr11:65387422-65387423	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs370346327	chr11:65387447-65387448	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs149450828	chr11:65387464-65387465	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs185937268	chr11:65387476-65387477	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs143859144	chr11:65387483-65387484	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs190798040	chr11:65387487-65387488	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs550204995	chr11:65387491-65387492	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs35383375	chr11:65387514-65387515	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs374737531	chr11:65387525-65387526	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs538894853	chr11:65387535-65387536	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs561174096	chr11:65387549-65387550	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs530253069	chr11:65387550-65387551	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs148619950	chr11:65387606-65387607	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs368603695	chr11:65387612-65387613	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs534690136	chr11:65387623-65387624	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs554504959	chr11:65387641-65387642	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs181275483	chr11:65387646-65387647	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs537526810	chr11:65387655-65387656	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs557190374	chr11:65387670-65387671	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs576953232	chr11:65387698-65387699	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs201960854	chr11:65387780-65387781	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs371100152	chr11:65387785-65387786	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs201219133	chr11:65387816-65387817	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs373832503	chr11:65387832-65387833	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs368034012	chr11:65387853-65387854	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs371292345	chr11:65387874-65387875	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs573132608	chr11:65387890-65387891	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs147000329	chr11:65387908-65387909	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs542146673	chr11:65387968-65387969	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs561638314	chr11:65387970-65387971	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs530438769	chr11:65388046-65388047	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs550631744	chr11:65388055-65388056	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs142108341	chr11:65388079-65388080	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs114170285	chr11:65388080-65388081	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs552396782	chr11:65388114-65388115	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs114642420	chr11:65388118-65388119	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs185814077	chr11:65388120-65388121	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs146708570	chr11:65388158-65388159	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs568079927	chr11:65388200-65388201	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs537084972	chr11:65388208-65388209	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs557405544	chr11:65388209-65388210	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs547994533	chr11:65388229-65388230	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs577306788	chr11:65388235-65388236	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	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:2477 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65383800-65387400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:65384200-65389600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:65384400-65387800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:65384400-65389400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:65384400-65402200	Weak transcription	Fetal Kidney	kidney
6	chr11:65384600-65389600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:65384600-65390000	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr11:65384600-65398800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:65384600-65402000	Weak transcription	Psoas Muscle	Psoas
10	chr11:65384800-65387600	Strong transcription	NH-A	brain
11	chr11:65384800-65387800	Strong transcription	Left Ventricle	heart
12	chr11:65384800-65388000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:65384800-65389000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:65384800-65389000	Strong transcription	Aorta	Aorta
15	chr11:65384800-65392000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:65384800-65393600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr11:65384800-65393600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr11:65384800-65394000	Weak transcription	Stomach Mucosa	stomach
19	chr11:65384800-65399600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:65384800-65399600	Strong transcription	Ovary	ovary
21	chr11:65384800-65399800	Strong transcription	Osteobl	bone
22	chr11:65384800-65404400	Weak transcription	Fetal Heart	heart
23	chr11:65384800-65404600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr11:65384800-65404600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:65384800-65404600	Strong transcription	Thymus	Thymus
26	chr11:65384800-65404800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:65384800-65404800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:65385000-65387600	Strong transcription	NHDF-Ad	bronchial
29	chr11:65385000-65387800	Strong transcription	Primary hematopoietic stem cells	blood
30	chr11:65385000-65389200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:65385000-65389600	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr11:65385000-65390400	Weak transcription	HUVEC	blood vessel
33	chr11:65385000-65391800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:65385000-65393200	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr11:65385000-65393200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:65385000-65393400	Strong transcription	Brain Hippocampus Middle	brain
37	chr11:65385000-65393600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:65385000-65393600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:65385000-65393600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:65385000-65396600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:65385000-65396600	Weak transcription	Fetal Brain Male	brain
42	chr11:65385000-65398000	Strong transcription	HMEC	breast
43	chr11:65385000-65398600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:65385000-65399600	Strong transcription	Rectal Smooth Muscle	rectum
45	chr11:65385000-65404200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr11:65385000-65404200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:65385000-65404200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:65385000-65404400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:65385000-65404400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:65385000-65404400	Strong transcription	Fetal Stomach	stomach

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