Variant report

Variant	rs542593433
Chromosome Location	chr11:67235648-67235649
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr11:67235496-67235995	ECC-1	luminal epithelium:	n/a	n/a
2	FOS	chr11:67235559-67235855	MCF10A-Er-Src	breast:	n/a	n/a
3	FOSL2	chr11:67235435-67235991	MCF-7	breast:	n/a	n/a
4	HCFC1	chr11:67235249-67237451	Hela-S3	cervix:	n/a	n/a
5	STAT3	chr11:67235603-67235868	MCF10A-Er-Src	breast:	n/a	chr11:67235688-67235700
6	TAF1	chr11:67235459-67237232	ECC-1	luminal epithelium:	n/a	n/a
7	MTA3	chr11:67235106-67237227	GM12878	blood:	n/a	n/a
8	YY1	chr11:67235586-67235780	HCT-116	colon:	n/a	n/a
9	EP300	chr11:67235432-67236122	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr11:67235026-67237150	HCT-116	colon:	n/a	n/a
11	POLR2A	chr11:67235378-67235933	MCF-7	breast:	n/a	n/a
12	POLR2A	chr11:67235501-67236222	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr11:67233795-67237091	K562	blood:	n/a	n/a
14	NFATC1	chr11:67235469-67236106	GM12878	blood:	n/a	n/a
15	EP300	chr11:67235461-67235868	T-47D	breast:	n/a	n/a
16	POLR2A	chr11:67234507-67237181	K562	blood:	n/a	n/a
17	RCOR1	chr11:67235612-67235702	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:67235569-67237236	ProgFib	skin:	n/a	n/a
19	NFIC	chr11:67235303-67236085	ECC-1	luminal epithelium:	n/a	n/a
20	NR2F2	chr11:67235382-67235979	MCF-7	breast:	n/a	n/a
21	POLR2A	chr11:67235344-67237176	MCF-7	breast:	n/a	n/a
22	STAT5A	chr11:67235430-67235979	GM12878	blood:	n/a	chr11:67235688-67235700 chr11:67235959-67235967
23	TCF12	chr11:67235369-67235954	ECC-1	luminal epithelium:	n/a	chr11:67235484-67235494
24	POLR2A	chr11:67235512-67237168	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr11:67235469-67237283	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr11:67233884-67237113	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:67235072-67235658	Hela-S3	cervix:	n/a	n/a
28	EGR1	chr11:67235528-67236025	ECC-1	luminal epithelium:	n/a	n/a
29	SIN3AK20	chr11:67235244-67237281	MCF-7	breast:	n/a	n/a
30	SMARCB1	chr11:67235633-67237124	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:67235583-67237238	PBDE	blood:	n/a	n/a
32	POLR2A	chr11:67233884-67237151	Raji	blood:	n/a	n/a
33	POLR2A	chr11:67234515-67237185	ECC-1	luminal epithelium:	n/a	n/a
34	FOS	chr11:67235579-67235878	MCF10A-Er-Src	breast:	n/a	n/a
35	MAX	chr11:67235426-67237151	MCF-7	breast:	n/a	chr11:67236871-67236880
36	ZBTB7A	chr11:67235342-67235939	ECC-1	luminal epithelium:	n/a	n/a
37	FOS	chr11:67235578-67235854	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:67235446-67237116	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr11:67235534-67235842	MCF10A-Er-Src	breast:	n/a	n/a
40	MYC	chr11:67235641-67235750	MCF-7	breast:	n/a	n/a
41	POLR2A	chr11:67234959-67236169	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr11:67235197-67237121	GM12891	blood:	n/a	n/a
43	POLR2A	chr11:67235247-67237155	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr11:67235597-67235904	Hela-S3	cervix:	n/a	n/a
45	NFIC	chr11:67235488-67236060	ECC-1	luminal epithelium:	n/a	n/a
46	STAT3	chr11:67235646-67235798	MCF10A-Er-Src	breast:	n/a	chr11:67235688-67235700
47	POLR2A	chr11:67235370-67235729	HUVEC	blood vessel:	n/a	n/a
48	GATA3	chr11:67235534-67235797	T-47D	breast:	n/a	n/a
49	POLR2A	chr11:67235645-67235991	GM12878	blood:	n/a	n/a
50	STAT3	chr11:67235606-67235979	MCF10A-Er-Src	breast:	n/a	chr11:67235688-67235700 chr11:67235959-67235967

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67226396..67229007-chr11:67234982..67237548,2	K562	blood:
2	chr11:67234712..67238016-chr11:67274176..67276331,3	K562	blood:
3	chr11:67232230..67238185-chr11:67272105..67277120,9	K562	blood:
4	chr11:67234942..67238660-chr11:67246245..67252394,7	MCF-7	breast:
5	chr11:67069155..67071597-chr11:67234852..67239277,5	MCF-7	breast:
6	chr11:67156700..67160978-chr11:67234255..67237148,8	MCF-7	breast:
7	chr11:67222064..67223632-chr11:67234422..67237101,2	K562	blood:
8	chr11:67231244..67235869-chr11:67255079..67259378,6	MCF-7	breast:
9	chr11:67215208..67219901-chr11:67230573..67236211,5	K562	blood:
10	chr11:67137032..67142528-chr11:67234580..67238729,6	MCF-7	breast:
11	chr11:67210748..67211271-chr11:67235396..67236381,2	Hela-S3	cervix:
12	chr11:67234460..67237754-chr11:67271882..67275850,7	MCF-7	breast:
13	chr11:67201248..67204152-chr11:67232413..67236121,3	K562	blood:
14	chr11:67164667..67170931-chr11:67232207..67238345,15	MCF-7	breast:
15	chr11:67230107..67238941-chr11:67268499..67277838,23	MCF-7	breast:
16	chr11:67181921..67184734-chr11:67234626..67236825,2	K562	blood:
17	chr11:67175789..67179239-chr11:67234277..67236634,3	MCF-7	breast:
18	chr11:67166766..67171737-chr11:67231413..67236466,7	K562	blood:
19	chr11:67056211..67059053-chr11:67235087..67237043,2	MCF-7	breast:
20	chr11:67229962..67234772-chr11:67234827..67242516,28	K562	blood:
21	chr11:66383175..66385697-chr11:67233661..67236166,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM134	TF binding region
ENSG00000269913	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000175463	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000172508	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000255949	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000175544	Chromatin interaction
ENSG00000172725	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	esv1813337	chr11:67217703-67235815	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
22	nsv983155	chr11:67220251-67251432	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
23	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
24	esv3409664	chr11:67235401-67238149	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67232800-67235800	Weak transcription	Aorta	Aorta
2	chr11:67233000-67235800	Weak transcription	Fetal Kidney	kidney
3	chr11:67233200-67235800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:67233200-67235800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr11:67233800-67236000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:67234000-67236000	Enhancers	Spleen	Spleen
7	chr11:67234000-67236600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:67234200-67235800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr11:67234200-67235800	Enhancers	Fetal Lung	lung
10	chr11:67234200-67237200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr11:67234400-67235800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:67234400-67236400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr11:67234800-67235800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:67234800-67235800	Flanking Active TSS	HepG2	liver
15	chr11:67234800-67236000	Enhancers	Fetal Brain Male	brain
16	chr11:67234800-67236000	Enhancers	Lung	lung
17	chr11:67234800-67236200	Flanking Active TSS	Dnd41	blood
18	chr11:67235000-67235800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:67235000-67235800	Enhancers	Brain Substantia Nigra	brain
20	chr11:67235000-67235800	Flanking Active TSS	Esophagus	oesophagus
21	chr11:67235000-67235800	Enhancers	Fetal Heart	heart
22	chr11:67235000-67235800	Enhancers	Right Atrium	heart
23	chr11:67235000-67236000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr11:67235000-67236200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:67235000-67236200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr11:67235000-67236200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr11:67235000-67236400	Flanking Active TSS	HMEC	breast
28	chr11:67235200-67235800	Enhancers	Brain Germinal Matrix	brain
29	chr11:67235200-67236000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:67235200-67236000	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr11:67235200-67236200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:67235200-67236200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:67235200-67236200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:67235200-67236200	Flanking Active TSS	Liver	Liver
35	chr11:67235200-67236200	Flanking Active TSS	Colonic Mucosa	Colon
36	chr11:67235200-67236200	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr11:67235200-67236200	Flanking Active TSS	Fetal Brain Female	brain
38	chr11:67235200-67236200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr11:67235200-67236200	Flanking Active TSS	NHEK	skin
40	chr11:67235200-67236400	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr11:67235200-67237000	Active TSS	HSMMtube	muscle
42	chr11:67235200-67237200	Active TSS	Gastric	stomach
43	chr11:67235200-67237400	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr11:67235400-67235800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:67235400-67235800	Enhancers	Psoas Muscle	Psoas
46	chr11:67235400-67235800	Enhancers	Small Intestine	intestine
47	chr11:67235400-67235800	Enhancers	NH-A	brain
48	chr11:67235400-67236000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr11:67235400-67236000	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr11:67235400-67236000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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