Variant report

Variant	nsv897324
Chromosome Location	chr11:47193566-47212032
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1952)
CpG islands
(count:1710)
Chromatin interactive
region (count:76)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1952 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:47208331-47209121	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:47198460-47199210	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:47210783-47211422	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:47198961-47199196	K562	blood:	n/a	n/a
5	ATF1	chr11:47198377-47199252	K562	blood:	n/a	n/a
6	ATF2	chr11:47206992-47207455	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:47198186-47199169	GM12878	blood:	n/a	n/a
8	ATF2	chr11:47208265-47208860	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr11:47198213-47198478	GM12878	blood:	n/a	n/a
10	ATF2	chr11:47198156-47199215	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr11:47206902-47207408	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr11:47198854-47199310	GM12878	blood:	n/a	n/a
13	ATF3	chr11:47198137-47198698	A549	lung:	n/a	chr11:47198638-47198647 chr11:47198310-47198319 chr11:47198625-47198634 chr11:47198601-47198610
14	ATF3	chr11:47198871-47199371	A549	lung:	n/a	n/a
15	BACH1	chr11:47208429-47208827	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr11:47201023-47201331	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr11:47207754-47208225	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr11:47198518-47199297	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr11:47207091-47207438	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr11:47198867-47199171	K562	blood:	n/a	n/a
21	BCL3	chr11:47210745-47211490	A549	lung:	n/a	n/a
22	BCL3	chr11:47197923-47199312	A549	lung:	n/a	chr11:47198684-47198693 chr11:47198437-47198450 chr11:47198619-47198632
23	BCL3	chr11:47197816-47199214	A549	lung:	n/a	chr11:47198684-47198693 chr11:47198437-47198450 chr11:47198619-47198632
24	BCLAF1	chr11:47198869-47199323	GM12878	blood:	n/a	n/a
25	BCLAF1	chr11:47198202-47199291	GM12878	blood:	n/a	chr11:47198684-47198693 chr11:47198437-47198450 chr11:47198619-47198632
26	BHLHE40	chr11:47210857-47211397	HepG2	liver:	n/a	n/a
27	BHLHE40	chr11:47197789-47197939	K562	blood:	n/a	n/a
28	BHLHE40	chr11:47198291-47199390	GM12878	blood:	n/a	chr11:47198618-47198634
29	BHLHE40	chr11:47210971-47211248	K562	blood:	n/a	n/a
30	BHLHE40	chr11:47207646-47207860	HepG2	liver:	n/a	n/a
31	BHLHE40	chr11:47198561-47199287	K562	blood:	n/a	chr11:47198618-47198634
32	BHLHE40	chr11:47208216-47208411	K562	blood:	n/a	n/a
33	BHLHE40	chr11:47206364-47206751	HepG2	liver:	n/a	n/a
34	BRCA1	chr11:47210824-47211379	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr11:47207671-47207725	HepG2	liver:	n/a	n/a
36	BRCA1	chr11:47198255-47198261	HepG2	liver:	n/a	n/a
37	BRCA1	chr11:47210899-47211190	HepG2	liver:	n/a	n/a
38	BRCA1	chr11:47207077-47207379	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr11:47198888-47199180	GM12878	blood:	n/a	n/a
40	BRCA1	chr11:47198205-47199190	Hela-S3	cervix:	n/a	n/a
41	CBX3	chr11:47198160-47199362	K562	blood:	n/a	n/a
42	CBX3	chr11:47208198-47208653	K562	blood:	n/a	n/a
43	CBX3	chr11:47207184-47207527	K562	blood:	n/a	n/a
44	CCNT2	chr11:47198087-47199229	K562	blood:	n/a	chr11:47198685-47198694 chr11:47198978-47198987 chr11:47198514-47198523 chr11:47198752-47198761
45	CCNT2	chr11:47207495-47208240	K562	blood:	n/a	n/a
46	CEBPB	chr11:47198486-47198785	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr11:47208313-47208547	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr11:47211488-47211633	HepG2	liver:	n/a	n/a
49	CEBPB	chr11:47209473-47209509	HepG2	liver:	n/a	n/a
50	CEBPB	chr11:47198412-47199222	Hela-S3	cervix:	n/a	n/a

(count:1710 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47211048-47211098	HCPEpiC	choroid plexus:	n/a
2	chr11:47198556-47198606	HPAEpiC	pulmonary alveolar:	n/a
3	chr11:47211048-47211098	HCPEpiC	choroid plexus:	n/a
4	chr11:47198556-47198606	HPAEpiC	pulmonary alveolar:	n/a
5	chr11:47207826-47207876	Jurkat	blood:	n/a
6	chr11:47198055-47198105	HCT-116	colon:	n/a
7	chr11:47194031-47194081	CMK	blood:	n/a
8	chr11:47206835-47206885	Jurkat	blood:	n/a
9	chr11:47198996-47199046	HRCEpiC	kidney:	n/a
10	chr11:47208367-47208417	H1-hESC	embryonic stem cell:	embryo
11	chr11:47198576-47198626	AoSMC	blood vessel:	n/a
12	chr11:47211048-47211098	Hepatocyte	liver:	n/a
13	chr11:47201474-47201524	AG09309	skin:	n/a
14	chr11:47198564-47198614	IMR90	lung:	fetal
15	chr11:47198055-47198105	HUVEC	blood vessel:	n/a
16	chr11:47209415-47209465	GM12891	blood:	n/a
17	chr11:47197938-47197988	H1-hESC	embryonic stem cell:	embryo
18	chr11:47199457-47199507	K562	blood:	n/a
19	chr11:47198564-47198614	ECC-1	luminal epithelium:	n/a
20	chr11:47209415-47209465	SKMC	muscle:	n/a
21	chr11:47207826-47207876	T-47D	breast:	n/a
22	chr11:47198570-47198620	GM19239	blood:	n/a
23	chr11:47198055-47198105	NH-A	brain:	n/a
24	chr11:47208959-47209009	HMEC	breast:	n/a
25	chr11:47198573-47198623	GM19239	blood:	n/a
26	chr11:47198535-47198585	HAEpiC	amniotic membrane:	n/a
27	chr11:47207390-47207440	SKMC	muscle:	n/a
28	chr11:47198576-47198626	LNCaP	prostate:	n/a
29	chr11:47198315-47198365	CMK	blood:	n/a
30	chr11:47211048-47211098	SK-N-MC	brain:	n/a
31	chr11:47198564-47198614	SK-N-SH_RA	brain:	n/a
32	chr11:47208959-47209009	MCF10A-Er-Src	breast:	n/a
33	chr11:47198846-47198896	HPAEpiC	pulmonary alveolar:	n/a
34	chr11:47207998-47208048	HRCEpiC	kidney:	n/a
35	chr11:47201858-47201908	GM19239	blood:	n/a
36	chr11:47197938-47197988	HMEC	breast:	n/a
37	chr11:47198535-47198585	HIPEpiC	eye:	n/a
38	chr11:47198576-47198626	Hepatocyte	liver:	n/a
39	chr11:47207390-47207440	AG04449	skin:	fetal
40	chr11:47211048-47211098	AG09309	skin:	n/a
41	chr11:47208959-47209009	ovcar-3	ovarian:	n/a
42	chr11:47198315-47198365	AG04450	lung:	fetal
43	chr11:47198535-47198585	AG09319	gingival:	n/a
44	chr11:47202094-47202144	NT2-D1	testis:	n/a
45	chr11:47208959-47209009	PFSK-1	brain:	n/a
46	chr11:47211048-47211098	MCF10A-Er-Src	breast:	n/a
47	chr11:47211048-47211098	BE2_C	brain:	n/a
48	chr11:47204679-47204729	PFSK-1	brain:	n/a
49	chr11:47197938-47197988	HRCEpiC	kidney:	n/a
50	chr11:47198055-47198105	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:46866389..46868370-chr11:47196689..47198841,3	MCF-7	breast:
2	chr11:47198332..47200151-chr11:47277071..47279374,2	K562	blood:
3	chr11:47205689..47216568-chr11:47232414..47239487,27	MCF-7	breast:
4	chr11:47209261..47211056-chr11:47214428..47216571,3	K562	blood:
5	chr11:47197774..47202059-chr11:47234538..47239113,7	MCF-7	breast:
6	chr11:47198885..47199441-chr11:47290149..47290767,2	MCF-7	breast:
7	chr11:47200760..47201391-chr11:47280819..47281923,3	MCF-7	breast:
8	chr11:47197631..47199665-chr11:47279516..47282212,2	K562	blood:
9	chr11:47197941..47200223-chr11:47281634..47284173,2	K562	blood:
10	chr11:47197625..47198583-chr11:62608723..62609420,2	Hela-S3	cervix:
11	chr11:47207092..47208885-chr11:47420633..47423542,2	K562	blood:
12	chr11:47208035..47210761-chr11:47215071..47216625,2	K562	blood:
13	chr11:47196939..47199221-chr11:47446629..47449473,2	K562	blood:
14	chr11:47205341..47210329-chr11:47212095..47213798,5	MCF-7	breast:
15	chr11:47205835..47208468-chr11:47280225..47282817,2	MCF-7	breast:
16	chr11:47205996..47209414-chr11:47263017..47267262,4	MCF-7	breast:
17	chr11:47196892..47202921-chr11:47278417..47285951,9	MCF-7	breast:
18	chr11:47198994..47199552-chr11:47207531..47208471,2	K562	blood:
19	chr11:47208178..47210711-chr11:47292129..47294410,2	K562	blood:
20	chr11:47206987..47207900-chr17:56736234..56736875,2	Hela-S3	cervix:
21	chr11:47205837..47210171-chr11:47289770..47293955,7	MCF-7	breast:
22	chr11:47195231..47200543-chr11:47288487..47293127,12	MCF-7	breast:
23	chr11:47204023..47207155-chr11:47207314..47211225,4	K562	blood:
24	chr11:47196068..47203526-chr11:47288943..47293025,13	MCF-7	breast:
25	chr11:46911149..46911668-chr11:47198981..47199518,2	MCF-7	breast:
26	chr11:47198019..47198588-chr11:73018989..73019857,2	Hela-S3	cervix:
27	chr11:47209362..47211566-chr11:47254961..47257621,2	MCF-7	breast:
28	chr11:47207085..47210178-chr11:47288214..47292056,4	MCF-7	breast:
29	chr11:47209972..47212228-chr11:47292930..47294669,2	MCF-7	breast:
30	chr11:47202119..47205492-chr11:47206060..47209673,5	K562	blood:
31	chr11:46866113..46868534-chr11:47197085..47200725,4	K562	blood:
32	chr11:47197356..47201056-chr11:47268366..47272336,6	MCF-7	breast:
33	chr11:47206281..47210029-chr11:47290997..47292963,3	K562	blood:
34	chr11:47203732..47205768-chr11:47206390..47208181,2	MCF-7	breast:
35	chr11:47208508..47211092-chr11:47245771..47247789,2	MCF-7	breast:
36	chr11:47205217..47215436-chr11:47233934..47241095,26	MCF-7	breast:
37	chr11:47197588..47201043-chr11:47267472..47270431,4	MCF-7	breast:
38	chr11:47194502..47201735-chr11:47289181..47294156,14	K562	blood:
39	chr11:47199115..47199669-chr11:47371116..47371820,2	MCF-7	breast:
40	chr11:47207552..47208216-chr2:158732302..158733110,2	Hela-S3	cervix:
41	chr11:47203683..47208496-chr11:47223862..47228000,5	MCF-7	breast:
42	chr11:47208173..47208692-chr11:47290493..47291378,2	Hela-S3	cervix:
43	chr11:47198677..47199625-chr11:47270051..47270816,5	MCF-7	breast:
44	chr11:47205613..47207687-chr11:47429461..47432184,2	K562	blood:
45	chr11:47196838..47200214-chr11:47234555..47238435,7	MCF-7	breast:
46	chr11:47201336..47204009-chr11:47374499..47376871,2	MCF-7	breast:
47	chr11:47193875..47196458-chr11:47267923..47269877,3	MCF-7	breast:
48	chr11:47206745..47208837-chr11:47280102..47282885,2	K562	blood:
49	chr11:47198368..47200069-chr11:47446814..47449315,2	MCF-7	breast:
50	chr11:47206949..47207677-chr19:17326146..17326928,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C11orf49-3	chr11:47196408-47196619	expReg_chr11_4001_+

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6745	chr11:47201166-47201186	MIMAT0027391

No data

Variant related genes	Relation type
PACSIN3	TF binding region
ARFGAP2	TF binding region
ENSG00000270060	TF binding region
PACSIN3	CpG island
ARFGAP2	CpG island
ENSG00000270060	CpG island
ENSG00000165915	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000255197	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000110514	chromatin interactions
ENSG00000115170	chromatin interactions
ENSG00000053501	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000149179	chromatin interactions
ENSG00000209042	chromatin interactions
ENSG00000266540	chromatin interactions
ENSG00000175216	chromatin interactions
ENSG00000134574	chromatin interactions
ENSG00000134575	chromatin interactions
ENSG00000148344	chromatin interactions
ENSG00000134569	chromatin interactions
ENSG00000110237	chromatin interactions
ENSG00000247675	chromatin interactions
ENSG00000184009	chromatin interactions
ENSG00000113013	chromatin interactions
ENSG00000165912	chromatin interactions
ENSG00000256746	chromatin interactions
ENSG00000165916	chromatin interactions
ENSG00000264583	chromatin interactions
ENSG00000025434	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000243802	chromatin interactions

Extended variants
information (count: 794 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11600668	chr11:47193566-47193567	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562608636	chr11:47193636-47193637	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs576549518	chr11:47193665-47193666	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs182328452	chr11:47193676-47193677	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs562230974	chr11:47193689-47193690	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs186653669	chr11:47193693-47193694	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs559482020	chr11:47193712-47193713	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs567875496	chr11:47193722-47193723	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs564428301	chr11:47193753-47193754	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs141426073	chr11:47193761-47193762	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs368298281	chr11:47193762-47193763	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs570179097	chr11:47193774-47193775	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs531382982	chr11:47193775-47193776	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs372471725	chr11:47193791-47193792	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs368873424	chr11:47193861-47193862	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs369493716	chr11:47193866-47193867	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs372356998	chr11:47193867-47193868	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs375417911	chr11:47193888-47193889	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs368953478	chr11:47193897-47193898	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs200134756	chr11:47193919-47193920	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs553472031	chr11:47193990-47193991	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs567929404	chr11:47194026-47194027	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs533809288	chr11:47194034-47194035	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs577954281	chr11:47194076-47194077	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs192611602	chr11:47194081-47194082	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs185503790	chr11:47194106-47194107	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs190411629	chr11:47194107-47194108	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs555980380	chr11:47194163-47194164	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs576123323	chr11:47194169-47194170	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs541577398	chr11:47194176-47194177	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs555903117	chr11:47194199-47194200	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs146939392	chr11:47194202-47194203	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs76966935	chr11:47194286-47194287	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs528774566	chr11:47194357-47194358	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs533362878	chr11:47194399-47194400	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs74834065	chr11:47194487-47194488	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs137883731	chr11:47194508-47194509	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs565416969	chr11:47194509-47194510	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs529353830	chr11:47194545-47194546	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs530969650	chr11:47194594-47194595	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs141930882	chr11:47194622-47194623	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs201909893	chr11:47194647-47194648	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs567867965	chr11:47194700-47194701	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs191511852	chr11:47194749-47194750	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs74402657	chr11:47194751-47194752	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs570457882	chr11:47194771-47194772	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs554888100	chr11:47194781-47194782	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs185094623	chr11:47194807-47194808	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs113036198	chr11:47194823-47194824	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs556091740	chr11:47194840-47194841	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1842 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47175400-47197600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47176000-47196600	Strong transcription	Fetal Intestine Small	intestine
3	chr11:47176800-47196600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:47178000-47197000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:47178200-47194000	Strong transcription	Dnd41	blood
6	chr11:47178800-47196800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:47180600-47196600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:47181400-47197000	Weak transcription	Right Atrium	heart
9	chr11:47182000-47196400	Strong transcription	Hela-S3	cervix
10	chr11:47182200-47194800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:47182200-47197000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:47182400-47196400	Strong transcription	Fetal Intestine Large	intestine
13	chr11:47183200-47194000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr11:47183200-47197000	Strong transcription	Placenta	Placenta
15	chr11:47183200-47197200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:47183400-47193800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:47183400-47194600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:47183400-47194600	Strong transcription	Colonic Mucosa	Colon
19	chr11:47183400-47196600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:47183400-47197000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:47183400-47197000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr11:47183400-47197000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:47183600-47193800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:47183600-47194200	Strong transcription	Fetal Thymus	thymus
25	chr11:47183600-47196400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:47183600-47196600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:47183600-47197000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:47183600-47197000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:47183800-47196800	Strong transcription	NHLF	lung
30	chr11:47184000-47193600	Strong transcription	Adipose Nuclei	Adipose
31	chr11:47184000-47194000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:47184000-47196800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr11:47184200-47196000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr11:47184400-47193800	Strong transcription	Pancreas	Pancrea
35	chr11:47184400-47194000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:47184400-47194400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:47184400-47196400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:47184400-47197000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:47184600-47194000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:47184600-47196400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:47184600-47196600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:47184800-47195200	Strong transcription	Primary B cells from cord blood	blood
43	chr11:47184800-47196600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr11:47184800-47197000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:47185000-47195600	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr11:47185200-47193800	Strong transcription	Brain Germinal Matrix	brain
47	chr11:47185200-47195600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:47185200-47196600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:47185400-47193800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:47185400-47195600	Strong transcription	Muscle Satellite Cultured Cells	--

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