Variant report

Variant	rs540518667
Chromosome Location	chr11:67211516-67211517
allele	C/T
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	POLR2A	chr11:67198736-67211579	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:67211063-67214047	GM12891	blood:	n/a	n/a
3	BHLHE40	chr11:67210920-67211546	GM12878	blood:	n/a	chr11:67211394-67211403 chr11:67211395-67211404 chr11:67211388-67211409
4	USF1	chr11:67211197-67211540	A549	lung:	n/a	chr11:67211394-67211403 chr11:67211395-67211404 chr11:67211388-67211409
5	CREB1	chr11:67210783-67211537	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:67210887-67211528	GM12892	blood:	n/a	n/a
7	TCF12	chr11:67211006-67211647	A549	lung:	n/a	chr11:67211204-67211211
8	USF1	chr11:67210916-67211562	SK-N-SH	brain:	n/a	chr11:67211394-67211403 chr11:67211395-67211404 chr11:67211388-67211409
9	POLR2A	chr11:67200521-67212166	K562	blood:	n/a	n/a
10	USF1	chr11:67210860-67211612	ECC-1	luminal epithelium:	n/a	chr11:67211394-67211403 chr11:67211395-67211404 chr11:67211388-67211409
11	MAX	chr11:67210822-67211579	A549	lung:	n/a	n/a
12	EP300	chr11:67211375-67211649	GM12878	blood:	n/a	n/a
13	UBTF	chr11:67211146-67211552	K562	blood:	n/a	n/a
14	POLR2A	chr11:67208132-67211600	GM18505	blood:	n/a	n/a
15	MAX	chr11:67210848-67211921	K562	blood:	n/a	n/a
16	USF1	chr11:67211136-67211542	H1-hESC	embryonic stem cell:	n/a	chr11:67211394-67211403 chr11:67211395-67211404 chr11:67211388-67211409
17	MXI1	chr11:67209791-67211572	IMR90	lung:	n/a	n/a
18	ELF1	chr11:67209722-67211558	GM12878	blood:	n/a	n/a
19	MAX	chr11:67211137-67211725	GM12878	blood:	n/a	n/a
20	POU2F2	chr11:67211456-67211588	GM12878	blood:	n/a	n/a
21	USF1	chr11:67211020-67211525	K562	blood:	n/a	chr11:67211394-67211403 chr11:67211395-67211404 chr11:67211388-67211409
22	HCFC1	chr11:67209216-67212169	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:67210339-67212173	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr11:67209197-67211545	HL-60	blood:	n/a	n/a
25	CHD1	chr11:67211120-67211556	GM12878	blood:	n/a	n/a
26	MXI1	chr11:67210508-67212056	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr11:67210480-67211523	HUVEC	blood vessel:	n/a	n/a
28	ZBTB7A	chr11:67210450-67211545	ECC-1	luminal epithelium:	n/a	chr11:67211126-67211135
29	YY1	chr11:67211031-67211537	H1-hESC	embryonic stem cell:	n/a	n/a
30	NFATC1	chr11:67211009-67212017	GM12878	blood:	n/a	n/a
31	REST	chr11:67210708-67211605	H1-neurons	neurons:	n/a	n/a
32	MAX	chr11:67210868-67211531	A549	lung:	n/a	n/a
33	POLR2A	chr11:67209230-67211553	GM12878	blood:	n/a	n/a
34	ZNF384	chr11:67211096-67211844	K562	blood:	n/a	n/a
35	ELF1	chr11:67210157-67211556	GM12878	blood:	n/a	n/a
36	USF1	chr11:67211226-67211532	A549	lung:	n/a	chr11:67211394-67211403 chr11:67211395-67211404 chr11:67211388-67211409
37	NFATC1	chr11:67210983-67211549	GM12878	blood:	n/a	n/a
38	ZNF384	chr11:67211093-67212040	GM12878	blood:	n/a	n/a
39	ATF2	chr11:67210936-67211544	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:67210790-67211531	PFSK-1	brain:	n/a	n/a
41	NR2F2	chr11:67211000-67211533	K562	blood:	n/a	n/a
42	POLR2A	chr11:67210108-67211544	HUVEC	blood vessel:	n/a	n/a
43	YY1	chr11:67211016-67211635	GM12878	blood:	n/a	n/a
44	PML	chr11:67210902-67212047	GM12878	blood:	n/a	n/a
45	USF1	chr11:67210957-67211525	H1-hESC	embryonic stem cell:	n/a	chr11:67211394-67211403 chr11:67211395-67211404 chr11:67211388-67211409
46	POLR2A	chr11:67211021-67211993	GM12878	blood:	n/a	n/a
47	USF2	chr11:67211228-67211541	Hela-S3	cervix:	n/a	chr11:67211394-67211403 chr11:67211393-67211404 chr11:67211395-67211404 chr11:67211388-67211409
48	MTA3	chr11:67210983-67212126	GM12878	blood:	n/a	n/a
49	BHLHE40	chr11:67210910-67211550	K562	blood:	n/a	chr11:67211394-67211403 chr11:67211395-67211404 chr11:67211388-67211409
50	STAT5A	chr11:67211030-67211525	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67211079..67212845-chr11:67271889..67273813,2	MCF-7	breast:
2	chr1:151319500..151320189-chr11:67210733..67211584,2	Hela-S3	cervix:
3	chr11:67165362..67170814-chr11:67205782..67211749,9	K562	blood:
4	chr11:67185549..67189385-chr11:67208691..67212904,6	K562	blood:
5	chr11:67204954..67212426-chr11:67228820..67232211,6	K562	blood:
6	chr11:67140134..67141664-chr11:67209999..67212449,2	K562	blood:

Variant related genes	Relation type
CORO1B	TF binding region
ENSG00000270169	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000172508	Chromatin interaction
ENSG00000256514	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
5	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
6	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
8	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
9	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
10	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
12	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
13	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
14	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
15	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
16	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
17	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
18	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
19	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
20	esv1847460	chr11:67182600-67219337	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
21	nsv524096	chr11:67186000-67224988	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
22	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
23	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
24	nsv527056	chr11:67207426-67294308	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
25	esv3324830	chr11:67209801-67212349	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
26	esv3380496	chr11:67210126-67212174	Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
27	esv3421132	chr11:67210476-67211924	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67209600-67211800	Active TSS	Rectal Smooth Muscle	rectum
2	chr11:67209800-67212000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:67209800-67212200	Enhancers	Fetal Brain Male	brain
4	chr11:67210000-67211600	Active TSS	Brain Angular Gyrus	brain
5	chr11:67210000-67211600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr11:67210000-67211800	Active TSS	Small Intestine	intestine
7	chr11:67210000-67212000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:67210000-67212000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:67210000-67212000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:67210000-67212000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr11:67210000-67212000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:67210200-67211600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr11:67210200-67211600	Active TSS	A549	lung
14	chr11:67210200-67211600	Active TSS	Hela-S3	cervix
15	chr11:67210200-67211600	Active TSS	NHLF	lung
16	chr11:67210200-67211800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr11:67210200-67211800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr11:67210200-67211800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:67210200-67211800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:67210200-67211800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:67210200-67211800	Active TSS	Brain Anterior Caudate	brain
22	chr11:67210200-67211800	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr11:67210200-67211800	Active TSS	GM12878-XiMat	blood
24	chr11:67210200-67211800	Active TSS	HSMMtube	muscle
25	chr11:67210200-67211800	Active TSS	NHDF-Ad	bronchial
26	chr11:67210200-67212000	Active TSS	Fetal Kidney	kidney
27	chr11:67210200-67212200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:67210400-67211600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:67210400-67211600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:67210400-67211600	Active TSS	Duodenum Mucosa	Duodenum
31	chr11:67210400-67211600	Active TSS	Fetal Intestine Large	intestine
32	chr11:67210400-67211600	Active TSS	Ovary	ovary
33	chr11:67210400-67211600	Active TSS	Psoas Muscle	Psoas
34	chr11:67210400-67211600	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr11:67210400-67211600	Active TSS	HSMM	muscle
36	chr11:67210400-67211600	Active TSS	Osteobl	bone
37	chr11:67210400-67211800	Active TSS	H1 Cell Line	embryonic stem cell
38	chr11:67210400-67211800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:67210400-67211800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:67210400-67211800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:67210400-67211800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:67210400-67211800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:67210400-67211800	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr11:67210400-67211800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:67210400-67211800	Active TSS	Aorta	Aorta
46	chr11:67210400-67211800	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr11:67210400-67211800	Active TSS	Left Ventricle	heart
48	chr11:67210400-67211800	Active TSS	Right Atrium	heart
49	chr11:67210400-67211800	Active TSS	Right Ventricle	heart
50	chr11:67210400-67211800	Active TSS	HepG2	liver

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