Variant report

Variant	nsv897731
Chromosome Location	chr11:65304592-65318871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1314)
CpG islands
(count:1589)
Chromatin interactive
region (count:50)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1314 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:65308245-65308723	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr11:65306340-65306689	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr11:65307632-65308275	GM12878	blood:	n/a	n/a
4	ATF2	chr11:65307666-65308170	GM12878	blood:	n/a	n/a
5	ATF3	chr11:65308217-65308671	A549	lung:	n/a	chr11:65308245-65308254 chr11:65308313-65308322 chr11:65308308-65308317
6	BACH1	chr11:65313928-65314144	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr11:65314351-65314460	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr11:65307823-65307979	K562	blood:	n/a	n/a
9	BACH1	chr11:65308280-65308573	K562	blood:	n/a	n/a
10	BACH1	chr11:65314992-65315328	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr11:65306552-65308642	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr11:65304726-65305378	A549	lung:	n/a	chr11:65304780-65304793
13	BCL3	chr11:65306484-65306830	GM12878	blood:	n/a	n/a
14	BCL3	chr11:65307673-65308736	A549	lung:	n/a	chr11:65308316-65308329 chr11:65308271-65308284 chr11:65307943-65307952
15	BCL3	chr11:65306972-65307292	GM12878	blood:	n/a	n/a
16	BCL3	chr11:65307636-65308628	A549	lung:	n/a	chr11:65308316-65308329 chr11:65308271-65308284 chr11:65307943-65307952
17	BCLAF1	chr11:65307656-65308685	GM12878	blood:	n/a	chr11:65308316-65308329 chr11:65308271-65308284 chr11:65307943-65307952
18	BCLAF1	chr11:65307706-65308230	GM12878	blood:	n/a	chr11:65307943-65307952
19	BHLHE40	chr11:65307621-65308613	GM12878	blood:	n/a	chr11:65308243-65308259 chr11:65308113-65308129
20	BHLHE40	chr11:65314200-65314310	K562	blood:	n/a	chr11:65314247-65314263
21	BHLHE40	chr11:65307688-65308646	K562	blood:	n/a	chr11:65308243-65308259 chr11:65308113-65308129
22	BHLHE40	chr11:65313809-65314147	GM12878	blood:	n/a	n/a
23	BRCA1	chr11:65307831-65308039	GM12878	blood:	n/a	n/a
24	BRCA1	chr11:65314174-65314381	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr11:65307672-65307813	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr11:65308762-65308968	GM12878	blood:	n/a	n/a
27	BRCA1	chr11:65307061-65307128	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr11:65308399-65308573	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr11:65308398-65308596	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr11:65308292-65308535	GM12878	blood:	n/a	n/a
31	CBX3	chr11:65307648-65308699	K562	blood:	n/a	n/a
32	CBX3	chr11:65313821-65314207	K562	blood:	n/a	n/a
33	CBX3	chr11:65318395-65319375	K562	blood:	n/a	n/a
34	CCNT2	chr11:65307602-65308635	K562	blood:	n/a	chr11:65308191-65308200 chr11:65307673-65307682
35	CCNT2	chr11:65306096-65306126	K562	blood:	n/a	n/a
36	CCNT2	chr11:65318590-65318813	K562	blood:	n/a	chr11:65318772-65318781
37	CCNT2	chr11:65313807-65314320	K562	blood:	n/a	chr11:65314194-65314203 chr11:65314158-65314167
38	CEBPB	chr11:65307907-65308107	K562	blood:	n/a	n/a
39	CEBPB	chr11:65308388-65308681	HepG2	liver:	n/a	n/a
40	CEBPB	chr11:65308220-65308770	MCF-7	breast:	n/a	n/a
41	CEBPB	chr11:65308341-65308701	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr11:65308333-65308679	HepG2	liver:	n/a	n/a
43	CEBPB	chr11:65307639-65308146	GM12878	blood:	n/a	n/a
44	CEBPB	chr11:65308326-65308703	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr11:65315056-65315156	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr11:65308342-65308685	IMR90	lung:	n/a	n/a
47	CEBPB	chr11:65308341-65308702	A549	lung:	n/a	n/a
48	CEBPB	chr11:65318263-65318334	K562	blood:	n/a	n/a
49	CEBPB	chr11:65308406-65308544	HepG2	liver:	n/a	n/a
50	CEBPB	chr11:65308255-65308601	K562	blood:	n/a	n/a

(count:1589 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65306731-65306781	GM12891	blood:	n/a
2	chr11:65305575-65305625	HNPCEpiC	eye:	n/a
3	chr11:65318624-65318674	HEK293	kidney:	embryo
4	chr11:65306731-65306781	GM12891	blood:	n/a
5	chr11:65305575-65305625	HNPCEpiC	eye:	n/a
6	chr11:65318624-65318674	HEK293	kidney:	embryo
7	chr11:65306731-65306781	AG09319	gingival:	n/a
8	chr11:65314913-65314963	SK-N-MC	brain:	n/a
9	chr11:65315205-65315255	HEEpiC	esophagus:	n/a
10	chr11:65314556-65314606	SK-N-SH	brain:	n/a
11	chr11:65315205-65315255	GM12891	blood:	n/a
12	chr11:65308501-65308551	HCT-116	colon:	n/a
13	chr11:65315625-65315675	NHBE	bronchial:	n/a
14	chr11:65306116-65306166	Hela-S3	cervix:	n/a
15	chr11:65307006-65307056	NB4	blood:	n/a
16	chr11:65308645-65308695	ProgFib	skin:	n/a
17	chr11:65315466-65315516	AG10803	skin:	n/a
18	chr11:65315466-65315516	HL-60	blood:	n/a
19	chr11:65307006-65307056	AoSMC	blood vessel:	n/a
20	chr11:65307791-65307841	GM19239	blood:	n/a
21	chr11:65314556-65314606	IMR90	lung:	fetal
22	chr11:65308423-65308473	Jurkat	blood:	n/a
23	chr11:65306116-65306166	GM12878	blood:	n/a
24	chr11:65318624-65318674	Caco-2	colon:	n/a
25	chr11:65308645-65308695	H1-hESC	embryonic stem cell:	embryo
26	chr11:65308245-65308295	Hela-S3	cervix:	n/a
27	chr11:65307006-65307056	GM12891	blood:	n/a
28	chr11:65305575-65305625	H1-hESC	embryonic stem cell:	embryo
29	chr11:65315205-65315255	U87	brain:	n/a
30	chr11:65308501-65308551	GM12891	blood:	n/a
31	chr11:65306731-65306781	HepG2	liver:	n/a
32	chr11:65306116-65306166	PANC-1	pancreas:	n/a
33	chr11:65307006-65307056	ECC-1	luminal epithelium:	n/a
34	chr11:65306934-65306984	NHBE	bronchial:	n/a
35	chr11:65307006-65307056	AG04449	skin:	fetal
36	chr11:65308245-65308295	GM06990	blood:	n/a
37	chr11:65315284-65315334	BJ	skin:	n/a
38	chr11:65311181-65311231	RPTEC	kidney:	n/a
39	chr11:65315030-65315080	NHBE	bronchial:	n/a
40	chr11:65305575-65305625	MCF-7	breast:	n/a
41	chr11:65314454-65314504	SKMC	muscle:	n/a
42	chr11:65314913-65314963	AG09309	skin:	n/a
43	chr11:65315284-65315334	HEK293	kidney:	embryo
44	chr11:65306731-65306781	HRCEpiC	kidney:	n/a
45	chr11:65308645-65308695	AG09319	gingival:	n/a
46	chr11:65306731-65306781	NHBE	bronchial:	n/a
47	chr11:65314021-65314071	Caco-2	colon:	n/a
48	chr11:65315030-65315080	SK-N-SH	brain:	n/a
49	chr11:65306186-65306236	ECC-1	luminal epithelium:	n/a
50	chr11:65306116-65306166	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:65308267..65308949-chr11:65339470..65340001,3	MCF-7	breast:
2	chr1:29063672..29064279-chr11:65307848..65308494,2	HCT-116	colon:
3	chr11:65306570..65308318-chr11:65381821..65384190,3	K562	blood:
4	chr11:65307679..65310014-chr11:65429997..65432824,2	MCF-7	breast:
5	chr11:65307312..65308926-chr11:65339023..65340083,15	MCF-7	breast:
6	chr11:65308291..65309442-chr11:65319131..65320116,6	MCF-7	breast:
7	chr11:65264480..65266722-chr11:65312839..65315295,3	MCF-7	breast:
8	chr11:65309008..65312326-chr11:65383111..65384790,3	K562	blood:
9	chr11:65307733..65308892-chr11:65339050..65340029,8	K562	blood:
10	chr11:65307648..65308488-chr11:65318954..65319482,2	MCF-7	breast:
11	chr11:65307310..65307872-chr11:65360978..65361533,2	MCF-7	breast:
12	chr11:65264365..65266366-chr11:65317003..65319991,2	K562	blood:
13	chr11:65307252..65310035-chr11:65625535..65628177,3	K562	blood:
14	chr11:65189854..65192035-chr11:65305464..65309123,3	K562	blood:
15	chr11:65307871..65308546-chr11:65343015..65343628,2	K562	blood:
16	chr11:65266245..65270118-chr11:65305867..65309860,5	MCF-7	breast:
17	chr11:65317456..65320108-chr11:65409381..65411829,2	K562	blood:
18	chr11:65188258..65192947-chr11:65311570..65315780,5	MCF-7	breast:
19	chr11:65307403..65309183-chr11:65336934..65338289,13	MCF-7	breast:
20	chr11:65316910..65318706-chr11:65381900..65384785,2	MCF-7	breast:
21	chr11:65311946..65314284-chr11:65416620..65419973,3	MCF-7	breast:
22	chr11:65307609..65308998-chr11:65336892..65338725,9	K562	blood:
23	chr11:65307335..65308296-chr17:73775501..73776065,2	HCT-116	colon:
24	chr11:65307860..65308586-chr11:65319285..65320130,2	K562	blood:
25	chr11:65317657..65319340-chr11:65625571..65627845,2	K562	blood:
26	chr11:65306856..65307488-chr17:73150357..73151051,2	Hela-S3	cervix:
27	chr11:65306479..65309303-chr5:10247983..10249958,2	MCF-7	breast:
28	chr11:65306623..65309907-chr11:65380382..65384254,6	MCF-7	breast:
29	chr11:65313091..65315677-chr11:65380016..65384543,4	K562	blood:
30	chr11:65264479..65268560-chr11:65318003..65330456,22	MCF-7	breast:
31	chr11:65183635..65190622-chr11:65305653..65310980,8	MCF-7	breast:
32	chr11:65265744..65267932-chr11:65309818..65311423,2	MCF-7	breast:
33	chr11:65187744..65191441-chr11:65307194..65309813,3	MCF-7	breast:
34	chr11:65317777..65320540-chr11:65382585..65385188,2	K562	blood:
35	chr11:65318195..65320071-chr11:65547732..65549881,2	K562	blood:
36	chr11:65311405..65314216-chr11:65624257..65626834,2	MCF-7	breast:
37	chr11:65318049..65318986-chr11:65337261..65337964,2	MCF-7	breast:
38	chr11:65307697..65309026-chr3:64008900..64009738,3	MCF-7	breast:
39	chr11:65264483..65267723-chr11:65317387..65320009,5	MCF-7	breast:
40	chr11:65148353..65151201-chr11:65310310..65312867,2	MCF-7	breast:
41	chr11:65262833..65264423-chr11:65305627..65307751,2	K562	blood:
42	chr11:65265253..65270298-chr11:65311800..65316872,7	MCF-7	breast:
43	chr11:65190162..65194738-chr11:65316952..65321274,6	K562	blood:
44	chr11:65308066..65308605-chr11:65337068..65337929,2	Hela-S3	cervix:
45	chr11:65263261..65267812-chr11:65306192..65309215,4	MCF-7	breast:
46	chr11:65265849..65268250-chr11:65311884..65313858,2	K562	blood:
47	chr11:65312318..65314153-chr11:65727479..65730326,3	MCF-7	breast:
48	chr11:65184371..65196984-chr11:65316952..65328208,29	K562	blood:
49	chr11:65100032..65102632-chr11:65307572..65309259,3	MCF-7	breast:
50	chr11:65265849..65268238-chr11:65310772..65313384,2	K562	blood:

No data

Variant related genes	Relation type
LTBP3	TF binding region
SCYL1	TF binding region
LTBP3	CpG island
SCYL1	CpG island
ENSG00000163636	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000173442	chromatin interactions
ENSG00000198492	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000213445	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000173039	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000133884	chromatin interactions
ENSG00000248968	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000162241	chromatin interactions
ENSG00000173338	chromatin interactions
ENSG00000176973	chromatin interactions
ENSG00000254470	chromatin interactions
ENSG00000175467	chromatin interactions
ENSG00000173465	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000260233	chromatin interactions
ENSG00000168056	chromatin interactions
ENSG00000265874	chromatin interactions
ENSG00000197136	chromatin interactions
ENSG00000173327	chromatin interactions
ENSG00000189159	chromatin interactions

Extended variants
information (count: 599 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:599 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2845563	chr11:65304592-65304593	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs559979760	chr11:65304630-65304631	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs528759277	chr11:65304631-65304632	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs548919197	chr11:65304698-65304699	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs562013183	chr11:65304704-65304705	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs530934270	chr11:65304785-65304786	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs139301320	chr11:65304834-65304835	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs369707294	chr11:65304855-65304856	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs570886646	chr11:65304860-65304861	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs186171789	chr11:65304866-65304867	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs546444527	chr11:65304871-65304872	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs79875490	chr11:65304882-65304883	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs551217936	chr11:65304918-65304919	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs566682168	chr11:65304953-65304954	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs560332836	chr11:65304966-65304967	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs535318599	chr11:65305006-65305007	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs555253331	chr11:65305038-65305039	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs149931069	chr11:65305085-65305086	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs537494767	chr11:65305140-65305141	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs35161627	chr11:65305155-65305156	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs557811107	chr11:65305161-65305162	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs571123020	chr11:65305200-65305201	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs373522232	chr11:65305214-65305215	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs577697819	chr11:65305222-65305223	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs540336442	chr11:65305223-65305224	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs553260856	chr11:65305225-65305226	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs373178890	chr11:65305282-65305283	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs56076708	chr11:65305309-65305310	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs371045520	chr11:65305325-65305326	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs373018179	chr11:65305327-65305328	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs200493885	chr11:65305341-65305342	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs113708769	chr11:65305354-65305355	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs556715289	chr11:65305357-65305358	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs562417006	chr11:65305368-65305369	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs530908409	chr11:65305370-65305371	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs376258574	chr11:65305389-65305390	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs370371120	chr11:65305399-65305400	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs377514487	chr11:65305423-65305424	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs373952549	chr11:65305426-65305427	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs199946104	chr11:65305450-65305451	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs199514188	chr11:65305476-65305477	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370180815	chr11:65305536-65305537	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374521201	chr11:65305543-65305544	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368539269	chr11:65305548-65305549	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs201172030	chr11:65305558-65305559	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201119677	chr11:65305564-65305565	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs377014210	chr11:65305593-65305594	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576776296	chr11:65305605-65305606	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs202171988	chr11:65305606-65305607	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372503856	chr11:65305614-65305615	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1376 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65293600-65305600	Weak transcription	Right Atrium	heart
2	chr11:65293600-65307600	Weak transcription	Small Intestine	intestine
3	chr11:65294000-65305800	Strong transcription	Fetal Brain Female	brain
4	chr11:65294000-65305800	Strong transcription	Fetal Intestine Large	intestine
5	chr11:65294000-65306400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:65294000-65306400	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr11:65294000-65306400	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:65294000-65306600	Weak transcription	Fetal Heart	heart
9	chr11:65294000-65306800	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:65294000-65307000	Strong transcription	Lung	lung
11	chr11:65294000-65307200	Strong transcription	Brain Cingulate Gyrus	brain
12	chr11:65294200-65304800	Strong transcription	Fetal Muscle Leg	muscle
13	chr11:65294200-65306200	Strong transcription	Brain Hippocampus Middle	brain
14	chr11:65294200-65306200	Weak transcription	Fetal Brain Male	brain
15	chr11:65294200-65306200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr11:65294200-65306400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr11:65294200-65306800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:65294200-65307200	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:65294400-65306000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:65294400-65306200	Strong transcription	Fetal Intestine Small	intestine
21	chr11:65294400-65306400	Strong transcription	Brain Germinal Matrix	brain
22	chr11:65294400-65306400	Strong transcription	Brain Substantia Nigra	brain
23	chr11:65294400-65306600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:65294400-65307000	Strong transcription	Fetal Stomach	stomach
25	chr11:65294400-65307200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:65294400-65307400	Strong transcription	NHLF	lung
27	chr11:65294600-65304600	Strong transcription	Fetal Muscle Trunk	muscle
28	chr11:65294600-65306000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:65294600-65306400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:65294600-65306400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:65294600-65307000	Strong transcription	Adipose Nuclei	Adipose
32	chr11:65294600-65307200	Strong transcription	Placenta	Placenta
33	chr11:65294800-65304600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:65294800-65306400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:65294800-65306600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:65294800-65307400	Strong transcription	Osteobl	bone
37	chr11:65295000-65306400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:65295200-65306200	Strong transcription	Right Ventricle	heart
39	chr11:65295200-65306600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:65296000-65306600	Strong transcription	Brain Anterior Caudate	brain
41	chr11:65296400-65306600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:65296800-65305400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:65297000-65305000	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:65297000-65306400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr11:65297200-65305000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:65297200-65306800	Strong transcription	Pancreas	Pancrea
47	chr11:65297400-65305400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:65297400-65305600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:65297400-65307200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:65297400-65311200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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