Variant report

Variant	rs2286625
Chromosome Location	chr11:67209170-67209171
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

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	chr11:67209155-67209334	A549	lung:	n/a	n/a
3	POLR2A	chr11:67208189-67210433	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:67200521-67212166	K562	blood:	n/a	n/a
5	POLR2A	chr11:67209170-67209507	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr11:67209015-67209393	ProgFib	skin:	n/a	n/a
7	POLR2A	chr11:67207533-67209197	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:67209154-67210769	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:67208132-67211600	GM18505	blood:	n/a	n/a
10	POLR2A	chr11:67201705-67209206	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr11:67209121-67210199	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:67209140-67210425	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:67208560-67209727	MCF-7	breast:	n/a	n/a
14	POLR2A	chr11:67204881-67211417	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:67208211-67209225	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:67208553-67209794	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr11:67204657-67209717	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr11:67198622-67210790	GM12892	blood:	n/a	n/a
19	POLR2A	chr11:67204834-67211350	MCF-7	breast:	n/a	n/a
20	POLR2A	chr11:67197957-67210886	GM12892	blood:	n/a	n/a
21	POLR2A	chr11:67208998-67209662	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:67209169-67209527	GM12891	blood:	n/a	n/a
23	POLR2A	chr11:67208154-67211428	GM19099	blood:	n/a	n/a
24	POLR2A	chr11:67200689-67210558	K562	blood:	n/a	n/a
25	POLR2A	chr11:67198642-67211413	K562	blood:	n/a	n/a
26	POLR2A	chr11:67207704-67213927	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67165362..67170814-chr11:67205782..67211749,9	K562	blood:
2	chr11:67208782..67211032-chr11:67270751..67273545,3	K562	blood:
3	chr11:67206947..67211030-chr11:67273670..67277577,4	MCF-7	breast:
4	chr11:67185549..67189385-chr11:67208691..67212904,6	K562	blood:
5	chr11:67204954..67212426-chr11:67228820..67232211,6	K562	blood:
6	chr11:67208958..67211217-chr17:56736613..56738121,2	MCF-7	breast:
7	chr11:67207904..67210724-chr11:67272140..67274356,2	MCF-7	breast:
8	chr11:67207285..67211032-chr11:67270341..67273194,4	K562	blood:

No data

Variant related genes	Relation type
CORO1B	TF binding region
PTPRCAP	TF binding region
ENSG00000172531	Chromatin interaction
ENSG00000270169	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000172508	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000110697	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11227870	1.00[MEX][hapmap]
rs34281447	1.00[MEX][hapmap]

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	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67196800-67210200	Weak transcription	Fetal Kidney	kidney
2	chr11:67197200-67209400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:67197200-67209800	Weak transcription	Fetal Heart	heart
4	chr11:67197200-67210000	Strong transcription	Fetal Brain Female	brain
5	chr11:67197200-67210000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:67197400-67209400	Strong transcription	Fetal Intestine Large	intestine
7	chr11:67197600-67209400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:67198200-67209600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:67198200-67209600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:67198200-67209800	Strong transcription	NHLF	lung
11	chr11:67201000-67209800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:67201600-67210000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:67202200-67210200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:67202400-67209800	Weak transcription	HepG2	liver
15	chr11:67202400-67210200	Weak transcription	Psoas Muscle	Psoas
16	chr11:67203200-67210000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:67203200-67210400	Weak transcription	Ovary	ovary
18	chr11:67203800-67209800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:67203800-67210400	Weak transcription	Aorta	Aorta
20	chr11:67204800-67209400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:67204800-67209800	Genic enhancers	Right Ventricle	heart
22	chr11:67205000-67209800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:67205200-67209800	Genic enhancers	Placenta	Placenta
24	chr11:67205400-67209400	Weak transcription	K562	blood
25	chr11:67205400-67209600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:67205400-67209800	Weak transcription	NH-A	brain
27	chr11:67205600-67209800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:67205600-67209800	Genic enhancers	Stomach Smooth Muscle	stomach
29	chr11:67205600-67210000	Weak transcription	Brain Angular Gyrus	brain
30	chr11:67205600-67210200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:67205600-67210400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:67205800-67209800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:67205800-67211200	Enhancers	Primary B cells from cord blood	blood
34	chr11:67206000-67209800	Genic enhancers	Gastric	stomach
35	chr11:67206200-67209400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:67206200-67209400	Genic enhancers	Esophagus	oesophagus
37	chr11:67206200-67209800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr11:67206200-67209800	Strong transcription	Fetal Stomach	stomach
39	chr11:67206200-67210200	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr11:67206200-67210200	Genic enhancers	Spleen	Spleen
41	chr11:67206400-67209800	Genic enhancers	Thymus	Thymus
42	chr11:67206600-67209600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:67206600-67209800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:67206600-67209800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:67206600-67209800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:67206800-67209600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr11:67206800-67209600	Genic enhancers	Brain Hippocampus Middle	brain
48	chr11:67206800-67209800	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr11:67206800-67209800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:67206800-67210200	Genic enhancers	Fetal Thymus	thymus

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