Variant report

Variant	rs372262050
Chromosome Location	chr11:67168414-67168415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67168104-67169411	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:67168031-67168467	Gliobla	brain:	n/a	n/a
3	CHD1	chr11:67168389-67169149	GM12878	blood:	n/a	chr11:67169002-67169012
4	HCFC1	chr11:67168035-67169985	Hela-S3	cervix:	n/a	n/a
5	RUNX3	chr11:67167938-67169330	GM12878	blood:	n/a	n/a
6	RUNX3	chr11:67167993-67169938	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:67167834-67169939	HUVEC	blood vessel:	n/a	n/a
8	RCOR1	chr11:67168333-67168435	K562	blood:	n/a	n/a
9	POLR2A	chr11:67168235-67168631	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr11:67167832-67168450	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:67167534-67169401	K562	blood:	n/a	n/a
12	STAT5A	chr11:67167743-67168696	GM12878	blood:	n/a	n/a
13	NFIC	chr11:67168396-67168696	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:67167837-67169829	Hela-S3	cervix:	n/a	n/a
15	PML	chr11:67168306-67169942	GM12878	blood:	n/a	n/a
16	MTA3	chr11:67167786-67169120	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:67167736-67169762	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:67167585-67169449	PANC-1	pancreas:	n/a	n/a
19	MXI1	chr11:67168071-67169848	IMR90	lung:	n/a	n/a
20	POLR2A	chr11:67167601-67168511	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:67168409-67168554	GM12878	blood:	n/a	n/a
22	SIN3AK20	chr11:67167643-67169907	MCF-7	breast:	n/a	n/a
23	POLR2A	chr11:67167760-67169388	ECC-1	luminal epithelium:	n/a	n/a
24	CHD1	chr11:67167968-67169978	IMR90	lung:	n/a	chr11:67169002-67169012
25	MAZ	chr11:67168406-67169924	IMR90	lung:	n/a	n/a
26	ESRRA	chr11:67168054-67170133	GM12878	blood:	n/a	chr11:67168509-67168528 chr11:67168993-67169006
27	POLR2A	chr11:67167790-67169126	A549	lung:	n/a	n/a
28	TBL1XR1	chr11:67168325-67169131	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:67167838-67169408	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:67167636-67169357	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:67167870-67169851	MCF-7	breast:	n/a	n/a
32	POLR2A	chr11:67167462-67169942	SK-N-MC	brain:	n/a	n/a
33	ZBTB7A	chr11:67168333-67169272	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr11:67167628-67169370	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:67167566-67168534	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr11:67167676-67168673	K562	blood:	n/a	n/a
37	POLR2A	chr11:67167656-67169846	MCF-7	breast:	n/a	n/a
38	POLR2A	chr11:67168254-67168419	H1-hESC	embryonic stem cell:	n/a	n/a
39	MXI1	chr11:67167517-67169951	SK-N-SH	brain:	n/a	n/a
40	BCL3	chr11:67167742-67168945	A549	lung:	n/a	chr11:67168838-67168847
41	POLR2A	chr11:67167654-67169375	GM12892	blood:	n/a	n/a
42	BCL3	chr11:67167780-67168601	A549	lung:	n/a	n/a
43	POLR2A	chr11:67167655-67168527	GM12892	blood:	n/a	n/a
44	POLR2A	chr11:67168347-67169468	K562	blood:	n/a	n/a
45	POLR2A	chr11:67167531-67170414	K562	blood:	n/a	n/a
46	POLR2A	chr11:67167820-67170497	HepG2	liver:	n/a	n/a
47	POLR2A	chr11:67167532-67169381	PFSK-1	brain:	n/a	n/a
48	TCF12	chr11:67168097-67168722	A549	lung:	n/a	n/a
49	POLR2A	chr11:67167548-67169845	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:67167645-67168730	GM12892	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67167428..67170410-chr11:67219775..67221650,2	MCF-7	breast:
2	chr11:67166766..67171737-chr11:67231413..67236466,7	K562	blood:
3	chr11:67167945..67169780-chr17:81036626..81038830,2	MCF-7	breast:
4	chr11:67167196..67169719-chr11:67288848..67291954,3	K562	blood:
5	chr11:67168411..67169285-chr15:52860702..52861287,2	Hela-S3	cervix:
6	chr11:67167204..67172690-chr11:67247088..67251861,6	K562	blood:
7	chr11:67165362..67170814-chr11:67205782..67211749,9	K562	blood:
8	chr11:67139623..67143035-chr11:67167894..67169679,3	K562	blood:
9	chr11:67164456..67171429-chr11:67268926..67279263,19	K562	blood:
10	chr11:67167808..67170779-chr11:67274850..67277472,4	MCF-7	breast:
11	chr11:67167204..67171216-chr11:67247088..67251861,5	K562	blood:
12	chr11:67077536..67079238-chr11:67167960..67169718,2	K562	blood:
13	chr11:67164667..67170931-chr11:67232207..67238345,15	MCF-7	breast:
14	chr11:67166559..67171272-chr11:67271633..67274655,6	MCF-7	breast:
15	chr11:67168005..67170770-chr11:67269467..67273329,6	K562	blood:
16	chr11:67164491..67170697-chr11:67268115..67277759,17	MCF-7	breast:

No data

Variant related genes	Relation type
TBC1D10C	TF binding region
PPP1CA	TF binding region
ENSG00000167797	Chromatin interaction
ENSG00000176845	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000167791	Chromatin interaction
ENSG00000128989	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000175514	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000175544	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000172725	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	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv516453	chr11:67164495-67186000	Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	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
19	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
20	nsv897810	chr11:67166310-67196237	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
21	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
22	esv3335687	chr11:67168076-67170524	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
23	esv3439784	chr11:67168201-67170749	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	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	chr11:67163000-67168800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:67164800-67168600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:67166400-67168600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:67167600-67168600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr11:67167600-67168600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:67167600-67168600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr11:67167600-67168600	Flanking Active TSS	Colon Smooth Muscle	Colon
8	chr11:67167600-67168600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
9	chr11:67167600-67168600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
10	chr11:67167600-67168600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
11	chr11:67167600-67168600	Flanking Active TSS	Hela-S3	cervix
12	chr11:67167600-67168600	Transcr. at gene 5' and 3'	NHLF	lung
13	chr11:67167600-67168800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
14	chr11:67167600-67168800	Flanking Active TSS	NH-A	brain
15	chr11:67167600-67169000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:67167600-67169000	Transcr. at gene 5' and 3'	Dnd41	blood
17	chr11:67167800-67168600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:67167800-67168600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:67167800-67168600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr11:67167800-67168600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr11:67167800-67168600	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:67167800-67168600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:67167800-67168600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr11:67167800-67168600	Flanking Active TSS	Fetal Intestine Large	intestine
25	chr11:67167800-67168600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
26	chr11:67167800-67168600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
27	chr11:67167800-67168600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
28	chr11:67167800-67168600	Flanking Active TSS	Pancreas	Pancrea
29	chr11:67167800-67168600	Transcr. at gene 5' and 3'	K562	blood
30	chr11:67167800-67168600	Flanking Active TSS	Osteobl	bone
31	chr11:67167800-67168800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:67167800-67168800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:67167800-67168800	Flanking Active TSS	Liver	Liver
34	chr11:67167800-67168800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr11:67167800-67169000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
36	chr11:67167800-67169000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr11:67167800-67169000	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr11:67167800-67169000	Flanking Active TSS	Colonic Mucosa	Colon
39	chr11:67167800-67169800	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr11:67168000-67168600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:67168000-67168600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr11:67168000-67168600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
43	chr11:67168000-67168600	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr11:67168000-67168600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:67168000-67168600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:67168000-67168600	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr11:67168000-67168600	Flanking Active TSS	Gastric	stomach
48	chr11:67168000-67168600	Flanking Active TSS	Left Ventricle	heart
49	chr11:67168000-67168600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
50	chr11:67168000-67168800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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