Variant report

Variant	nsv1037420
Chromosome Location	chr11:6637433-6679974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1207)
CpG islands
(count:1770)
Chromatin interactive
region (count:76)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1207 , 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	chr11:6646470-6646670	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:6640476-6640933	HepG2	liver:	n/a	n/a
3	ATF1	chr11:6672191-6672588	K562	blood:	n/a	n/a
4	ATF1	chr11:6639299-6639739	K562	blood:	n/a	n/a
5	ATF1	chr11:6656532-6657078	K562	blood:	n/a	n/a
6	ATF1	chr11:6659700-6660020	K562	blood:	n/a	n/a
7	ATF1	chr11:6640216-6640975	K562	blood:	n/a	n/a
8	ATF2	chr11:6668141-6668709	GM12878	blood:	n/a	n/a
9	ATF2	chr11:6668226-6668603	GM12878	blood:	n/a	n/a
10	ATF2	chr11:6640503-6641082	GM12878	blood:	n/a	n/a
11	ATF2	chr11:6640444-6640912	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr11:6640457-6641116	GM12878	blood:	n/a	n/a
13	ATF3	chr11:6640518-6640750	GM12878	blood:	n/a	n/a
14	ATF3	chr11:6640436-6640975	HepG2	liver:	n/a	n/a
15	ATF3	chr11:6640369-6640817	K562	blood:	n/a	n/a
16	ATF3	chr11:6672143-6672531	K562	blood:	n/a	n/a
17	ATF3	chr11:6639224-6639607	K562	blood:	n/a	n/a
18	ATF3	chr11:6640459-6640839	K562	blood:	n/a	n/a
19	ATF3	chr11:6640473-6640751	HepG2	liver:	n/a	n/a
20	ATF3	chr11:6640453-6640849	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF3	chr11:6640380-6640898	GM12878	blood:	n/a	n/a
22	ATF3	chr11:6640358-6640945	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF3	chr11:6640374-6640903	A549	lung:	n/a	n/a
24	BACH1	chr11:6651037-6652007	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr11:6652724-6652770	H1-hESC	embryonic stem cell:	n/a	n/a
26	BATF	chr11:6639707-6639947	GM12878	blood:	n/a	n/a
27	BATF	chr11:6668240-6668630	GM12878	blood:	n/a	n/a
28	BATF	chr11:6668309-6668594	GM12878	blood:	n/a	n/a
29	BATF	chr11:6639639-6640034	GM12878	blood:	n/a	n/a
30	BCL11A	chr11:6640620-6641036	GM12878	blood:	n/a	n/a
31	BCL11A	chr11:6668266-6668622	GM12878	blood:	n/a	chr11:6668417-6668426
32	BCL11A	chr11:6668309-6668572	GM12878	blood:	n/a	chr11:6668417-6668426
33	BCL11A	chr11:6639706-6639980	GM12878	blood:	n/a	n/a
34	BCL3	chr11:6676125-6676580	GM12878	blood:	n/a	n/a
35	BCL3	chr11:6676139-6676571	GM12878	blood:	n/a	n/a
36	BCL3	chr11:6640266-6640911	A549	lung:	n/a	n/a
37	BCLAF1	chr11:6668095-6668639	GM12878	blood:	n/a	chr11:6668230-6668243 chr11:6668417-6668426
38	BHLHE40	chr11:6640442-6641046	GM12878	blood:	n/a	n/a
39	BHLHE40	chr11:6667292-6667668	GM12878	blood:	n/a	chr11:6667509-6667525
40	BHLHE40	chr11:6639323-6640989	K562	blood:	n/a	n/a
41	BHLHE40	chr11:6640528-6640884	A549	lung:	n/a	n/a
42	BHLHE40	chr11:6646354-6646781	HepG2	liver:	n/a	n/a
43	BHLHE40	chr11:6648890-6649210	GM12878	blood:	n/a	n/a
44	BHLHE40	chr11:6672233-6672728	K562	blood:	n/a	n/a
45	BHLHE40	chr11:6639361-6639516	GM12878	blood:	n/a	n/a
46	BHLHE40	chr11:6675830-6676659	HepG2	liver:	n/a	chr11:6676109-6676125
47	BHLHE40	chr11:6656636-6657104	K562	blood:	n/a	n/a
48	BHLHE40	chr11:6661731-6661972	HepG2	liver:	n/a	n/a
49	BHLHE40	chr11:6644444-6644866	HepG2	liver:	n/a	n/a
50	BHLHE40	chr11:6645305-6645732	K562	blood:	n/a	n/a

(count:1770 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:6673784-6673834	AG09309	skin:	n/a
2	chr11:6673784-6673834	AG09309	skin:	n/a
3	chr11:6642908-6642958	HRE	kidney:	n/a
4	chr11:6651988-6652038	HRCEpiC	kidney:	n/a
5	chr11:6641656-6641706	CMK	blood:	n/a
6	chr11:6651263-6651313	HRE	kidney:	n/a
7	chr11:6677919-6677969	HRPEpiC	eye:	n/a
8	chr11:6637731-6637781	CMK	blood:	n/a
9	chr11:6643809-6643859	Caco-2	colon:	n/a
10	chr11:6661968-6662018	AG10803	skin:	n/a
11	chr11:6640663-6640713	SKMC	muscle:	n/a
12	chr11:6655429-6655479	HMEC	breast:	n/a
13	chr11:6640837-6640887	MCF10A-Er-Src	breast:	n/a
14	chr11:6643809-6643859	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:6679115-6679165	ECC-1	luminal epithelium:	n/a
16	chr11:6662324-6662374	NHBE	bronchial:	n/a
17	chr11:6673784-6673834	HCT-116	colon:	n/a
18	chr11:6677965-6678015	AG04450	lung:	fetal
19	chr11:6637731-6637781	PrEC	prostate:	n/a
20	chr11:6651152-6651202	ovcar-3	ovarian:	n/a
21	chr11:6676597-6676647	NT2-D1	testis:	n/a
22	chr11:6640837-6640887	HEK293	kidney:	embryo
23	chr11:6640837-6640887	LNCaP	prostate:	n/a
24	chr11:6643809-6643859	SK-N-MC	brain:	n/a
25	chr11:6642908-6642958	HPAEpiC	pulmonary alveolar:	n/a
26	chr11:6676515-6676565	Jurkat	blood:	n/a
27	chr11:6640996-6641046	NT2-D1	testis:	n/a
28	chr11:6676597-6676647	HRPEpiC	eye:	n/a
29	chr11:6676366-6676416	GM12891	blood:	n/a
30	chr11:6651152-6651202	HRPEpiC	eye:	n/a
31	chr11:6661968-6662018	NHDF-neo	bronchial:	n/a
32	chr11:6677087-6677137	ovcar-3	ovarian:	n/a
33	chr11:6651263-6651313	CMK	blood:	n/a
34	chr11:6640837-6640887	BE2_C	brain:	n/a
35	chr11:6677919-6677969	HL-60	blood:	n/a
36	chr11:6640720-6640770	LNCaP	prostate:	n/a
37	chr11:6640837-6640887	ovcar-3	ovarian:	n/a
38	chr11:6640837-6640887	PANC-1	pancreas:	n/a
39	chr11:6642908-6642958	K562	blood:	n/a
40	chr11:6657194-6657244	K562	blood:	n/a
41	chr11:6640837-6640887	PrEC	prostate:	n/a
42	chr11:6677965-6678015	SK-N-SH	brain:	n/a
43	chr11:6668214-6668264	PANC-1	pancreas:	n/a
44	chr11:6651988-6652038	AG04450	lung:	fetal
45	chr11:6655429-6655479	Hepatocyte	liver:	n/a
46	chr11:6657194-6657244	AG10803	skin:	n/a
47	chr11:6651988-6652038	GM06990	blood:	n/a
48	chr11:6676366-6676416	RPTEC	kidney:	n/a
49	chr11:6655429-6655479	HNPCEpiC	eye:	n/a
50	chr11:6640720-6640770	GM06990	blood:	n/a

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:6647293..6652436-chr11:6674078..6677379,4	K562	blood:
2	chr11:6658482..6660687-chr11:6661991..6663928,2	MCF-7	breast:
3	chr11:6631323..6635025-chr11:6655682..6658099,3	K562	blood:
4	chr11:6672344..6673946-chr11:6674107..6675922,2	K562	blood:
5	chr11:6654750..6657029-chr11:6703066..6704825,2	K562	blood:
6	chr11:6648502..6650921-chr11:6704352..6705924,2	MCF-7	breast:
7	chr11:6631358..6639818-chr11:6699378..6706814,11	K562	blood:
8	chr11:6552223..6553419-chr11:6659519..6660386,4	K562	blood:
9	chr11:6639025..6640842-chr11:6701151..6704783,4	MCF-7	breast:
10	chr11:6660854..6663363-chr11:6666895..6669145,2	MCF-7	breast:
11	chr11:6660854..6663363-chr11:6666895..6669145,2	MCF-7	breast:
12	chr11:6638642..6641377-chr11:6671039..6674008,2	K562	blood:
13	chr11:6677320..6679632-chr11:6685201..6687162,3	K562	blood:
14	chr11:6645535..6647177-chr11:6658020..6660520,2	MCF-7	breast:
15	chr11:6662316..6664531-chr11:6673542..6676066,2	K562	blood:
16	chr11:6642401..6645177-chr11:6674156..6676379,2	K562	blood:
17	chr11:6656547..6659365-chr11:6666285..6668794,2	K562	blood:
18	chr11:6673046..6675996-chr11:6697602..6699173,2	K562	blood:
19	chr11:6658451..6661437-chr11:6662516..6665841,4	K562	blood:
20	chr11:6671564..6673124-chr11:6685521..6687390,2	K562	blood:
21	chr11:6667612..6669318-chr11:6678887..6680520,2	K562	blood:
22	chr11:6643075..6645177-chr11:6673470..6675656,2	K562	blood:
23	chr11:6647467..6650354-chr11:6655499..6658337,3	K562	blood:
24	chr11:6639156..6641173-chr11:6703821..6705921,3	K562	blood:
25	chr11:6653503..6655020-chr11:6655234..6657015,2	MCF-7	breast:
26	chr11:6644575..6648069-chr11:6649396..6653532,5	K562	blood:
27	chr11:6659598..6661282-chr11:6662662..6665078,2	MCF-7	breast:
28	chr11:6659058..6663343-chr11:6701677..6705623,3	MCF-7	breast:
29	chr11:6645535..6647177-chr11:6658020..6660520,2	MCF-7	breast:
30	chr11:6446194..6448984-chr11:6645910..6647742,2	K562	blood:
31	chr11:6638157..6640921-chr11:6667033..6670355,3	MCF-7	breast:
32	chr11:6654578..6657843-chr11:6703066..6706154,4	K562	blood:
33	chr11:6641899..6643962-chr11:6651822..6653980,2	K562	blood:
34	chr11:6646749..6649566-chr11:6656604..6660574,4	K562	blood:
35	chr11:6500665..6502629-chr11:6645733..6647476,2	K562	blood:
36	chr11:6655101..6657094-chr11:6659773..6662365,3	K562	blood:
37	chr11:6655611..6658760-chr11:6664581..6666992,3	K562	blood:
38	chr11:6658451..6661437-chr11:6662516..6665841,4	K562	blood:
39	chr11:6643075..6645177-chr11:6673470..6675656,2	K562	blood:
40	chr11:6678471..6681926-chr11:6700369..6702976,3	K562	blood:
41	chr11:6639337..6641377-chr11:6671039..6672968,2	K562	blood:
42	chr11:6632773..6634316-chr11:6656599..6658208,2	K562	blood:
43	chr11:6672344..6673946-chr11:6674107..6675922,2	K562	blood:
44	chr11:6631935..6636002-chr11:6669789..6672430,3	K562	blood:
45	chr11:6639505..6641485-chr11:6656272..6658184,2	K562	blood:
46	chr11:6646749..6649566-chr11:6656604..6660574,4	K562	blood:
47	chr11:6632520..6634111-chr11:6671650..6673241,2	MCF-7	breast:
48	chr11:6662316..6664531-chr11:6673542..6676066,2	K562	blood:
49	chr11:6632176..6635139-chr11:6668951..6671645,3	MCF-7	breast:
50	chr11:6650671..6652738-chr11:6656023..6657936,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ILK-1	chr11:6640021-6640086	ENSG00000255680.1
2	lnc-ILK-1	chr11:6640598-6640995	ENSG00000255680.1
3	lnc-ILK-4	chr11:6677940-6677988	XLOC_009046
4	lnc-ILK-4	chr11:6678138-6678468	XLOC_009046

No data

Variant related genes	Relation type
TAF10	TF binding region
DCHS1	TF binding region
ENSG00000255390	TF binding region
TPP1	TF binding region
ENSG00000255680	TF binding region
ENSG00000255410	TF binding region
TAF10	CpG island
DCHS1	CpG island
ENSG00000255390	CpG island
TPP1	CpG island
ENSG00000255680	CpG island
ENSG00000255410	CpG island
ENSG00000166337	chromatin interactions
ENSG00000132254	chromatin interactions
ENSG00000255390	chromatin interactions
ENSG00000254400	chromatin interactions
ENSG00000158042	chromatin interactions
ENSG00000255410	chromatin interactions
ENSG00000166333	chromatin interactions
ENSG00000254641	chromatin interactions
ENSG00000166341	chromatin interactions
ENSG00000166340	chromatin interactions
ENSG00000179532	chromatin interactions
ENSG00000255680	chromatin interactions

Extended variants
information (count: 1886 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1886 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186441380	chr11:6637464-6637465	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs2471840	chr11:6637495-6637496	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs546788163	chr11:6637496-6637497	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs369536246	chr11:6637499-6637500	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs2072651	chr11:6637504-6637505	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs7943955	chr11:6637518-6637519	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs145966505	chr11:6637563-6637564	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs121908206	chr11:6637564-6637565	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs199866669	chr11:6637572-6637573	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs35706972	chr11:6637577-6637578	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs370144405	chr11:6637578-6637579	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs141482368	chr11:6637588-6637589	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs121908197	chr11:6637594-6637595	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs146927291	chr11:6637618-6637619	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs202086458	chr11:6637639-6637640	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs137937009	chr11:6637640-6637641	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs576988866	chr11:6637670-6637671	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs149463616	chr11:6637674-6637675	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs201192562	chr11:6637704-6637705	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs553122824	chr11:6637732-6637733	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs537576314	chr11:6637740-6637741	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs113565636	chr11:6637748-6637749	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs376721544	chr11:6637808-6637809	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs572962563	chr11:6637814-6637815	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs376994999	chr11:6637859-6637860	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs112046417	chr11:6637890-6637891	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs201561710	chr11:6637915-6637916	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs121908196	chr11:6637918-6637919	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs578253592	chr11:6637919-6637920	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs119455958	chr11:6637921-6637922	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs119455957	chr11:6637927-6637928	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs140349036	chr11:6637938-6637939	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs121908207	chr11:6637949-6637950	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs561854371	chr11:6637970-6637971	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs148222726	chr11:6637971-6637972	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs141920079	chr11:6637975-6637976	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs200138397	chr11:6637982-6637983	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs146136938	chr11:6637996-6637997	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs140176031	chr11:6638002-6638003	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs372817942	chr11:6638037-6638038	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs376072689	chr11:6638043-6638044	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs370683758	chr11:6638094-6638095	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs375262484	chr11:6638097-6638098	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs376868997	chr11:6638108-6638109	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs546701146	chr11:6638113-6638114	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs374750805	chr11:6638117-6638118	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs367659483	chr11:6638128-6638129	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs144354350	chr11:6638133-6638134	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs57382209	chr11:6638135-6638136	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs376521717	chr11:6638141-6638142	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2586 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6634400-6639200	Weak transcription	Fetal Brain Male	brain
2	chr11:6634400-6639400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:6634400-6639400	Weak transcription	Small Intestine	intestine
4	chr11:6634400-6639600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:6634400-6639600	Weak transcription	A549	lung
6	chr11:6634400-6639800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:6634600-6638800	Weak transcription	Right Atrium	heart
8	chr11:6634600-6639600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:6634600-6640000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:6634800-6637600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:6634800-6638800	Weak transcription	K562	blood
12	chr11:6634800-6639800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:6635000-6637600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:6635000-6637600	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr11:6635000-6637600	Strong transcription	HMEC	breast
16	chr11:6635000-6637600	Strong transcription	HSMM	muscle
17	chr11:6635000-6637800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:6635000-6637800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:6635000-6638000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:6635000-6638200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:6635000-6638200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:6635000-6638200	Strong transcription	HSMMtube	muscle
23	chr11:6635000-6638400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:6635000-6638400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:6635000-6638400	Strong transcription	Brain Anterior Caudate	brain
26	chr11:6635000-6638600	Strong transcription	Primary T cells from cord blood	blood
27	chr11:6635000-6638600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:6635000-6638600	Strong transcription	Fetal Intestine Large	intestine
29	chr11:6635000-6639000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:6635000-6639800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:6635200-6637600	Strong transcription	Left Ventricle	heart
32	chr11:6635200-6637800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:6635200-6637800	Strong transcription	Osteobl	bone
34	chr11:6635200-6638200	Strong transcription	Primary B cells from cord blood	blood
35	chr11:6635200-6638200	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:6635200-6638200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr11:6635200-6638400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:6635200-6638400	Strong transcription	Adipose Nuclei	Adipose
39	chr11:6635200-6638400	Strong transcription	NHEK	skin
40	chr11:6635200-6638600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:6635200-6638600	Strong transcription	Liver	Liver
42	chr11:6635200-6638600	Strong transcription	Brain Hippocampus Middle	brain
43	chr11:6635200-6638600	Strong transcription	Placenta	Placenta
44	chr11:6635200-6638600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr11:6635200-6638600	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:6635200-6638800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:6635400-6637600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:6635400-6637600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr11:6635400-6637800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr11:6635400-6638000	Strong transcription	Brain Angular Gyrus	brain

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