Variant report

Variant	rs540202054
Chromosome Location	chr11:67236675-67236676
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:395)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr11:67236420-67237018	Hela-S3	cervix:	n/a	n/a
2	RCOR1	chr11:67236590-67236997	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:67236220-67237074	HUVEC	blood vessel:	n/a	n/a
4	CREB1	chr11:67236574-67237220	H1-hESC	embryonic stem cell:	n/a	n/a
5	GABPA	chr11:67236365-67237036	K562	blood:	n/a	chr11:67236667-67236676
6	MYC	chr11:67236230-67237079	NB4	blood:	n/a	chr11:67236871-67236880
7	SIN3AK20	chr11:67236387-67237090	SK-N-SH	brain:	n/a	n/a
8	CREB1	chr11:67236657-67236999	A549	lung:	n/a	n/a
9	EP300	chr11:67236578-67236957	GM12878	blood:	n/a	n/a
10	BCLAF1	chr11:67236649-67237073	GM12878	blood:	n/a	n/a
11	TAF1	chr11:67236483-67236732	GM12891	blood:	n/a	n/a
12	MAX	chr11:67236500-67237015	K562	blood:	n/a	chr11:67236871-67236880
13	HMGN3	chr11:67236146-67237057	K562	blood:	n/a	n/a
14	ATF2	chr11:67236659-67237089	H1-hESC	embryonic stem cell:	n/a	chr11:67236875-67236886
15	POLR2A	chr11:67236310-67237220	GM12892	blood:	n/a	n/a
16	SP1	chr11:67236479-67237161	GM12878	blood:	n/a	chr11:67236836-67236847
17	SIN3AK20	chr11:67236670-67237055	A549	lung:	n/a	n/a
18	YY1	chr11:67236375-67237091	ECC-1	luminal epithelium:	n/a	n/a
19	TBP	chr11:67236581-67237029	GM12878	blood:	n/a	n/a
20	JUND	chr11:67236501-67237371	GM12878	blood:	n/a	n/a
21	MYC	chr11:67236511-67237061	MCF10A-Er-Src	breast:	n/a	chr11:67236871-67236880
22	RAD21	chr11:67236597-67237192	A549	lung:	n/a	n/a
23	YY1	chr11:67236617-67236898	K562	blood:	n/a	n/a
24	HCFC1	chr11:67235249-67237451	Hela-S3	cervix:	n/a	n/a
25	YY1	chr11:67236299-67237173	A549	lung:	n/a	chr11:67236361-67236370 chr11:67236359-67236370
26	YY1	chr11:67236144-67237293	SK-N-SH	brain:	n/a	chr11:67236361-67236370 chr11:67236359-67236370
27	MAX	chr11:67236334-67237215	HepG2	liver:	n/a	chr11:67236871-67236880
28	CTCF	chr11:67236612-67237211	MCF-7	breast:	n/a	n/a
29	POLR2A	chr11:67236453-67237145	K562	blood:	n/a	n/a
30	USF1	chr11:67236667-67237074	H1-hESC	embryonic stem cell:	n/a	n/a
31	SIN3A	chr11:67236516-67237194	GM12878	blood:	n/a	n/a
32	REST	chr11:67236450-67236873	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:67236463-67237087	HepG2	liver:	n/a	n/a
34	FOXP2	chr11:67236482-67237068	SK-N-MC	brain:	n/a	n/a
35	POLR2A	chr11:67236443-67237129	GM18951	blood:	n/a	n/a
36	TBP	chr11:67236548-67236977	HepG2	liver:	n/a	n/a
37	TAF1	chr11:67235459-67237232	ECC-1	luminal epithelium:	n/a	n/a
38	MTA3	chr11:67235106-67237227	GM12878	blood:	n/a	n/a
39	MAX	chr11:67236310-67237253	ECC-1	luminal epithelium:	n/a	chr11:67236871-67236880
40	POLR2A	chr11:67236463-67237126	K562	blood:	n/a	n/a
41	POLR2A	chr11:67236331-67237188	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr11:67236095-67237174	GM12878	blood:	n/a	n/a
43	REST	chr11:67236435-67237132	A549	lung:	n/a	n/a
44	YY1	chr11:67236413-67237169	GM12878	blood:	n/a	n/a
45	TAF1	chr11:67236436-67237086	H1-neurons	neurons:	n/a	n/a
46	SP4	chr11:67236507-67237032	H1-hESC	embryonic stem cell:	n/a	chr11:67236836-67236847
47	POLR2A	chr11:67236494-67237114	HepG2	liver:	n/a	n/a
48	TAF1	chr11:67236274-67236904	A549	lung:	n/a	n/a
49	TAF1	chr11:67236468-67237073	K562	blood:	n/a	n/a
50	POLR2A	chr11:67236428-67237035	A549	lung:	n/a	n/a

No data

(count:27 , 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	chr11:67206674..67207733-chr11:67236442..67237096,3	MCF-7	breast:
6	chr11:67236456..67237113-chr11:67273312..67274146,3	MCF-7	breast:
7	chr11:67236278..67236845-chr4:54930348..54931166,2	Hela-S3	cervix:
8	chr11:67069155..67071597-chr11:67234852..67239277,5	MCF-7	breast:
9	chr11:67156700..67160978-chr11:67234255..67237148,8	MCF-7	breast:
10	chr11:67222064..67223632-chr11:67234422..67237101,2	K562	blood:
11	chr11:67235776..67238484-chr11:67248509..67251813,3	K562	blood:
12	chr11:67137032..67142528-chr11:67234580..67238729,6	MCF-7	breast:
13	chr11:67234460..67237754-chr11:67271882..67275850,7	MCF-7	breast:
14	chr11:67168934..67169507-chr11:67236427..67237207,3	MCF-7	breast:
15	chr11:67164667..67170931-chr11:67232207..67238345,15	MCF-7	breast:
16	chr11:67236562..67239497-chr8:145633636..145636421,2	MCF-7	breast:
17	chr11:67230107..67238941-chr11:67268499..67277838,23	MCF-7	breast:
18	chr11:67236168..67237066-chr3:15247366..15248113,2	NB4	blood:
19	chr11:67181921..67184734-chr11:67234626..67236825,2	K562	blood:
20	chr10:103577409..103577951-chr11:67236206..67236788,2	Hela-S3	cervix:
21	chr11:67056211..67059053-chr11:67235087..67237043,2	MCF-7	breast:
22	chr11:67236379..67237298-chr17:39844986..39845574,2	Hela-S3	cervix:
23	chr11:67200052..67201775-chr11:67236334..67238070,2	K562	blood:
24	chr11:67236493..67237039-chr17:76164560..76165132,2	Hela-S3	cervix:
25	chr11:67235818..67238402-chr16:4895547..4898294,2	MCF-7	breast:
26	chr11:67229962..67234772-chr11:67234827..67242516,28	K562	blood:
27	chr11:65657743..65658556-chr11:67236340..67237166,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
TMEM134	TF binding region
ENSG00000175505	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000269913	Chromatin interaction
ENSG00000175544	Chromatin interaction
ENSG00000172725	Chromatin interaction
ENSG00000198408	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000172508	Chromatin interaction
ENSG00000131375	Chromatin interaction
ENSG00000140632	Chromatin interaction
ENSG00000118900	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000175634	Chromatin interaction
ENSG00000272115	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000071894	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000109220	Chromatin interaction
ENSG00000108639	Chromatin interaction
ENSG00000230524	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 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	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
22	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
23	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67234200-67237200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:67235200-67237000	Active TSS	HSMMtube	muscle
3	chr11:67235200-67237200	Active TSS	Gastric	stomach
4	chr11:67235200-67237400	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr11:67235400-67237200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr11:67235400-67237200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:67235400-67237200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:67235400-67237400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:67235600-67237000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr11:67235600-67237000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:67235600-67237000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:67235600-67237200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:67235600-67237400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr11:67235800-67237000	Active TSS	HepG2	liver
15	chr11:67235800-67237200	Active TSS	Esophagus	oesophagus
16	chr11:67235800-67237200	Active TSS	Ovary	ovary
17	chr11:67235800-67237200	Active TSS	Psoas Muscle	Psoas
18	chr11:67235800-67237200	Active TSS	Small Intestine	intestine
19	chr11:67235800-67237400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:67235800-67237400	Active TSS	Fetal Kidney	kidney
21	chr11:67236000-67237000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr11:67236000-67237000	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr11:67236000-67237000	Active TSS	Aorta	Aorta
24	chr11:67236000-67237000	Active TSS	Fetal Heart	heart
25	chr11:67236000-67237000	Active TSS	Fetal Intestine Small	intestine
26	chr11:67236000-67237000	Active TSS	Fetal Lung	lung
27	chr11:67236000-67237000	Active TSS	Osteobl	bone
28	chr11:67236000-67237200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr11:67236000-67237200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:67236000-67237200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:67236000-67237200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:67236000-67237200	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr11:67236000-67237200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:67236000-67237200	Active TSS	Fetal Intestine Large	intestine
35	chr11:67236000-67237200	Active TSS	Lung	lung
36	chr11:67236000-67237200	Active TSS	Pancreas	Pancrea
37	chr11:67236000-67237200	Active TSS	Placenta Amnion	Placenta Amnion
38	chr11:67236000-67237200	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr11:67236000-67237200	Active TSS	A549	lung
40	chr11:67236000-67237400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:67236000-67237400	Active TSS	Brain Angular Gyrus	brain
42	chr11:67236000-67237400	Active TSS	Brain Anterior Caudate	brain
43	chr11:67236000-67237400	Active TSS	Colon Smooth Muscle	Colon
44	chr11:67236000-67237400	Active TSS	HSMM	muscle
45	chr11:67236200-67236800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:67236200-67236800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:67236200-67237000	Active TSS	H1 Cell Line	embryonic stem cell
48	chr11:67236200-67237000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:67236200-67237000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:67236200-67237000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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