Variant report

Variant	nsv1054858
Chromosome Location	chr11:71847797-71880291
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:71863826-71864078	K562	blood:	n/a	n/a
2	ARID3A	chr11:71855048-71855363	K562	blood:	n/a	n/a
3	ATF1	chr11:71855078-71855400	K562	blood:	n/a	n/a
4	ATF1	chr11:71852182-71852593	K562	blood:	n/a	n/a
5	ATF3	chr11:71854980-71855362	K562	blood:	n/a	n/a
6	BACH1	chr11:71855102-71855389	K562	blood:	n/a	chr11:71855183-71855197
7	BACH1	chr11:71855082-71855372	H1-hESC	embryonic stem cell:	n/a	chr11:71855183-71855197
8	BATF	chr11:71855059-71855340	GM12878	blood:	n/a	n/a
9	BCLAF1	chr11:71855051-71855430	GM12878	blood:	n/a	n/a
10	BHLHE40	chr11:71855065-71855353	K562	blood:	n/a	n/a
11	BHLHE40	chr11:71874120-71874221	K562	blood:	n/a	n/a
12	CBX3	chr11:71847603-71847983	K562	blood:	n/a	n/a
13	CBX3	chr11:71876288-71876548	K562	blood:	n/a	n/a
14	CBX3	chr11:71876267-71876538	K562	blood:	n/a	n/a
15	CBX3	chr11:71847627-71847876	K562	blood:	n/a	n/a
16	CEBPB	chr11:71856053-71856684	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr11:71850861-71851079	K562	blood:	n/a	chr11:71850978-71850991
18	CEBPB	chr11:71856124-71856610	IMR90	lung:	n/a	n/a
19	CEBPB	chr11:71852144-71852555	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr11:71856194-71856488	A549	lung:	n/a	n/a
21	CEBPB	chr11:71847443-71847846	ECC-1	luminal epithelium:	n/a	chr11:71847653-71847664
22	CEBPB	chr11:71851315-71851666	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr11:71847469-71847831	ECC-1	luminal epithelium:	n/a	chr11:71847653-71847664
24	CEBPB	chr11:71847520-71847814	IMR90	lung:	n/a	chr11:71847653-71847664
25	CEBPB	chr11:71847603-71847801	HepG2	liver:	n/a	chr11:71847653-71847664
26	CEBPB	chr11:71871429-71871762	IMR90	lung:	n/a	n/a
27	CEBPB	chr11:71865867-71866166	K562	blood:	n/a	n/a
28	CEBPB	chr11:71848081-71848298	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr11:71871545-71871605	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr11:71856236-71856591	A549	lung:	n/a	n/a
31	CEBPB	chr11:71847539-71847799	Hela-S3	cervix:	n/a	chr11:71847653-71847664
32	CEBPD	chr11:71863755-71864253	K562	blood:	n/a	n/a
33	CEBPD	chr11:71863720-71864192	K562	blood:	n/a	n/a
34	CHD2	chr11:71856201-71856502	Hela-S3	cervix:	n/a	n/a
35	CREB1	chr11:71855040-71855320	A549	lung:	n/a	n/a
36	CTCF	chr11:71855025-71855412	K562	blood:	n/a	chr11:71855223-71855244 chr11:71855229-71855245 chr11:71855233-71855241 chr11:71855228-71855246
37	CTCF	chr11:71855160-71855310	GM12866	blood:	n/a	chr11:71855223-71855244 chr11:71855229-71855245 chr11:71855233-71855241 chr11:71855228-71855246
38	CTCF	chr11:71855520-71855670	GM12873	blood:	n/a	n/a
39	CTCF	chr11:71855072-71855375	ECC-1	luminal epithelium:	n/a	chr11:71855223-71855244 chr11:71855229-71855245 chr11:71855233-71855241 chr11:71855228-71855246
40	CTCF	chr11:71855034-71855537	MCF-7	breast:	n/a	chr11:71855223-71855244 chr11:71855229-71855245 chr11:71855233-71855241 chr11:71855228-71855246
41	CTCF	chr11:71855140-71855290	HBMEC	blood vessel:	n/a	chr11:71855223-71855244 chr11:71855229-71855245 chr11:71855233-71855241 chr11:71855228-71855246
42	CTCF	chr11:71854023-71854167	GM19238	blood:	n/a	chr11:71854101-71854122
43	CTCF	chr11:71855080-71855380	LNCaP	prostate:	n/a	chr11:71855223-71855244 chr11:71855229-71855245 chr11:71855233-71855241 chr11:71855228-71855246
44	CTCF	chr11:71855180-71855330	HPAF	blood vessel:	n/a	chr11:71855223-71855244 chr11:71855229-71855245 chr11:71855233-71855241 chr11:71855228-71855246
45	CTCF	chr11:71854979-71855445	MCF-7	breast:	n/a	chr11:71855223-71855244 chr11:71855229-71855245 chr11:71855233-71855241 chr11:71855228-71855246
46	CTCF	chr11:71855081-71855357	GM19238	blood:	n/a	chr11:71855223-71855244 chr11:71855229-71855245 chr11:71855233-71855241 chr11:71855228-71855246
47	CTCF	chr11:71855180-71855330	HUVEC	blood vessel:	n/a	chr11:71855223-71855244 chr11:71855229-71855245 chr11:71855233-71855241 chr11:71855228-71855246
48	CTCF	chr11:71855180-71855330	SK-N-SH_RA	brain:	n/a	chr11:71855223-71855244 chr11:71855229-71855245 chr11:71855233-71855241 chr11:71855228-71855246
49	CTCF	chr11:71855180-71855330	GM12870	blood:	n/a	chr11:71855223-71855244 chr11:71855229-71855245 chr11:71855233-71855241 chr11:71855228-71855246
50	CTCF	chr11:71854043-71854180	GM12891	blood:	n/a	chr11:71854101-71854122

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71849870-71849920	HNPCEpiC	eye:	n/a
2	chr11:71849870-71849920	NH-A	brain:	n/a
3	chr11:71849870-71849920	A549	lung:	n/a
4	chr11:71849870-71849920	SK-N-SH	brain:	n/a
5	chr11:71849870-71849920	AG04450	lung:	fetal
6	chr11:71849870-71849920	SK-N-MC	brain:	n/a
7	chr11:71849870-71849920	PrEC	prostate:	n/a
8	chr11:71849870-71849920	NT2-D1	testis:	n/a
9	chr11:71849870-71849920	GM12892	blood:	n/a
10	chr11:71849870-71849920	GM19239	blood:	n/a
11	chr11:71849870-71849920	HCT-116	colon:	n/a
12	chr11:71849870-71849920	K562	blood:	n/a
13	chr11:71849870-71849920	HUVEC	blood vessel:	n/a
14	chr11:71849870-71849920	SAEC	small airway:	n/a
15	chr11:71849870-71849920	ovcar-3	ovarian:	n/a
16	chr11:71849870-71849920	HAEpiC	amniotic membrane:	n/a
17	chr11:71849870-71849920	Jurkat	blood:	n/a
18	chr11:71849870-71849920	NHDF-neo	bronchial:	n/a
19	chr11:71849870-71849920	RPTEC	kidney:	n/a
20	chr11:71849870-71849920	Caco-2	colon:	n/a
21	chr11:71849870-71849920	HRE	kidney:	n/a
22	chr11:71849870-71849920	GM12878	blood:	n/a
23	chr11:71849870-71849920	HEK293	kidney:	embryo
24	chr11:71849870-71849920	ProgFib	skin:	n/a
25	chr11:71849870-71849920	ECC-1	luminal epithelium:	n/a
26	chr11:71849870-71849920	AoSMC	blood vessel:	n/a
27	chr11:71849870-71849920	SK-N-SH_RA	brain:	n/a
28	chr11:71849870-71849920	LNCaP	prostate:	n/a
29	chr11:71849870-71849920	Hela-S3	cervix:	n/a
30	chr11:71849870-71849920	HEEpiC	esophagus:	n/a
31	chr11:71849870-71849920	NHBE	bronchial:	n/a
32	chr11:71849870-71849920	HCF	heart:	n/a
33	chr11:71849870-71849920	AG10803	skin:	n/a
34	chr11:71849870-71849920	U87	brain:	n/a
35	chr11:71849870-71849920	MCF-7	breast:	n/a
36	chr11:71849870-71849920	T-47D	breast:	n/a
37	chr11:71849870-71849920	BE2_C	brain:	n/a
38	chr11:71849870-71849920	HIPEpiC	eye:	n/a
39	chr11:71849870-71849920	BJ	skin:	n/a
40	chr11:71849870-71849920	HRPEpiC	eye:	n/a
41	chr11:71849870-71849920	IMR90	lung:	fetal
42	chr11:71849870-71849920	Hepatocyte	liver:	n/a
43	chr11:71849870-71849920	NB4	blood:	n/a
44	chr11:71849870-71849920	AG09309	skin:	n/a
45	chr11:71849870-71849920	MCF10A-Er-Src	breast:	n/a
46	chr11:71849870-71849920	PFSK-1	brain:	n/a
47	chr11:71849870-71849920	AG09319	gingival:	n/a
48	chr11:71849870-71849920	HCPEpiC	choroid plexus:	n/a
49	chr11:71849870-71849920	AG04449	skin:	fetal
50	chr11:71849870-71849920	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type
1	chr11:71814410..71815140-chr11:71854813..71855316,2	MCF-7	breast:
2	chr11:71853234..71854961-chr11:71893001..71894509,2	MCF-7	breast:
3	chr11:71855220..71857768-chr11:71870927..71873588,3	K562	blood:
4	chr11:71876184..71878568-chr11:71933790..71935887,2	K562	blood:
5	chr11:71868137..71870587-chr11:71874511..71876205,2	K562	blood:
6	chr11:71821644..71823933-chr11:71854873..71856774,3	MCF-7	breast:
7	chr11:71850218..71852679-chr11:71853502..71855781,2	MCF-7	breast:
8	chr11:71736115..71737039-chr11:71854770..71856004,4	MCF-7	breast:
9	chr11:71848622..71850667-chr11:71854281..71856804,2	MCF-7	breast:
10	chr11:71870250..71872525-chr11:71873469..71876026,2	K562	blood:
11	chr11:71736299..71737011-chr11:71854769..71855288,2	K562	blood:
12	chr11:71822348..71825348-chr11:71852319..71854832,3	MCF-7	breast:
13	chr11:71851522..71853498-chr11:71890827..71892489,2	K562	blood:
14	chr11:71821479..71826547-chr11:71844956..71851162,6	K562	blood:
15	chr11:71688550..71689500-chr11:71854791..71855728,4	K562	blood:
16	chr1:158173537..158174154-chr11:71849446..71849946,2	K562	blood:
17	chr11:71823336..71825069-chr11:71869762..71871942,2	K562	blood:
18	chr11:71853125..71854944-chr11:71891324..71892926,2	MCF-7	breast:
19	chr11:71849346..71852118-chr11:71862000..71864280,2	K562	blood:
20	chr11:71855220..71857768-chr11:71870927..71873588,3	K562	blood:
21	chr11:71726841..71727497-chr11:71854902..71855407,2	MCF-7	breast:
22	chr11:71821717..71826052-chr11:71851780..71856774,7	MCF-7	breast:
23	chr11:71817497..71819718-chr11:71852568..71855106,2	MCF-7	breast:
24	chr11:71870250..71872525-chr11:71873469..71876026,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHOX2A-1	chr11:71874366-71874423	ENSG00000204971.3

Variant related genes	Relation type
ENSG00000255860	TF binding region
FOLR3	TF binding region
ENSG00000256518	TF binding region
ENSG00000255860	CpG island
FOLR3	CpG island
ENSG00000256518	CpG island
ENSG00000110200	chromatin interactions
ENSG00000149357	chromatin interactions
ENSG00000165458	chromatin interactions
ENSG00000256518	chromatin interactions
ENSG00000176320	chromatin interactions
ENSG00000110203	chromatin interactions
ENSG00000238768	chromatin interactions

Extended variants
information (count: 1308 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1308 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185930137	chr11:71847876-71847877	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs537805304	chr11:71847894-71847895	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs551640180	chr11:71847920-71847921	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs11235448	chr11:71847936-71847937	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs556255654	chr11:71847982-71847983	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs35554325	chr11:71847985-71847986	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs60941917	chr11:71848015-71848016	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189590020	chr11:71848042-71848043	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs527515019	chr11:71848051-71848052	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs7936965	chr11:71848071-71848072	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs181172465	chr11:71848085-71848086	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs573058531	chr11:71848111-71848112	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs7950807	chr11:71848122-71848123	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs186165575	chr11:71848155-71848156	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs150315685	chr11:71848166-71848167	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs375721126	chr11:71848171-71848172	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs57283844	chr11:71848208-71848209	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532360	chr11:71848218-71848219	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs686063	chr11:71848231-71848232	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs533101	chr11:71848254-71848255	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs685749	chr11:71848255-71848256	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs535351814	chr11:71848261-71848262	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs533207	chr11:71848286-71848287	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs530129944	chr11:71848295-71848296	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs201566698	chr11:71848377-71848378	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs549968748	chr11:71848386-71848387	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs190774780	chr11:71848424-71848425	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs566678381	chr11:71848431-71848432	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs527452689	chr11:71848436-71848437	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs182957912	chr11:71848450-71848451	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs187414664	chr11:71848453-71848454	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs537872514	chr11:71848488-71848489	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs555883944	chr11:71848513-71848514	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs143634608	chr11:71848535-71848536	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs74752446	chr11:71848549-71848550	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs532550051	chr11:71848567-71848568	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs373190231	chr11:71848585-71848586	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs137925768	chr11:71848590-71848591	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs535206305	chr11:71848596-71848597	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs192256301	chr11:71848617-71848618	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs553804654	chr11:71848683-71848684	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs141921951	chr11:71848692-71848693	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs146905945	chr11:71848740-71848741	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs139401592	chr11:71848759-71848760	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs577120309	chr11:71848760-71848761	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs113059621	chr11:71848782-71848783	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs374117762	chr11:71848783-71848784	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs544637853	chr11:71848794-71848795	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs182582593	chr11:71848850-71848851	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548137457	chr11:71848890-71848891	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71828400-71850800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:71834400-71851000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:71844600-71847800	Weak transcription	NHEK	skin
4	chr11:71845600-71848800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr11:71845800-71847800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr11:71846600-71848800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
7	chr11:71846800-71848800	Active TSS	Primary B cells from cord blood	blood
8	chr11:71846800-71850600	Weak transcription	Spleen	Spleen
9	chr11:71846800-71853400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:71847000-71848000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:71847000-71848000	Enhancers	Esophagus	oesophagus
12	chr11:71847000-71848200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:71847200-71848000	Enhancers	NHDF-Ad	bronchial
14	chr11:71847400-71847800	Weak transcription	HSMMtube	muscle
15	chr11:71847400-71848000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr11:71847400-71848400	Active TSS	Primary hematopoietic stem cells	blood
17	chr11:71847400-71851000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:71847600-71847800	Enhancers	Osteobl	bone
19	chr11:71847600-71848000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:71847600-71848600	Enhancers	Hela-S3	cervix
21	chr11:71847600-71850600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:71847600-71850800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:71847600-71851000	Weak transcription	NH-A	brain
24	chr11:71847800-71848000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:71847800-71848000	Enhancers	HSMMtube	muscle
26	chr11:71847800-71848600	Enhancers	NHEK	skin
27	chr11:71847800-71850800	Weak transcription	Osteobl	bone
28	chr11:71847800-71851400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
29	chr11:71848000-71848200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:71848000-71848200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr11:71848000-71848400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:71848000-71850400	Weak transcription	Esophagus	oesophagus
33	chr11:71848000-71850600	Weak transcription	NHDF-Ad	bronchial
34	chr11:71848000-71850800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:71848000-71852000	Weak transcription	HSMMtube	muscle
36	chr11:71848000-71852600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:71848200-71850000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:71848200-71850800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:71848400-71850000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:71848400-71854600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr11:71848600-71850400	Weak transcription	NHEK	skin
42	chr11:71848600-71850800	Weak transcription	Hela-S3	cervix
43	chr11:71848800-71849800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
44	chr11:71848800-71849800	Enhancers	Primary B cells from cord blood	blood
45	chr11:71848800-71851600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
46	chr11:71849000-71849200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
47	chr11:71849000-71849200	ZNF genes & repeats	Fetal Intestine Large	intestine
48	chr11:71849000-71849200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
49	chr11:71849000-71849200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
50	chr11:71849000-71849200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle

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