Variant report

Variant	rs12708335
Chromosome Location	chr11:94228087-94228088
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:94227882-94228158	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr11:94225680-94228468	SK-N-SH	brain:	n/a	chr11:94226554-94226563
3	ARID3A	chr11:94228079-94228125	HepG2	liver:	n/a	n/a
4	MYC	chr11:94227923-94228123	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr11:94226428-94228927	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F4	chr11:94228031-94228361	MCF10A-Er-Src	breast:	n/a	n/a
7	BHLHE40	chr11:94227996-94228187	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:94226771..94229140-chr11:94275887..94279295,4	K562	blood:
2	chr11:94225979..94229384-chr11:94230397..94235421,9	K562	blood:
3	chr11:94225466..94228271-chr11:94275709..94278301,3	K562	blood:
4	chr11:94180184..94182302-chr11:94227182..94229296,2	K562	blood:
5	chr11:94226137..94228706-chr11:94300541..94302920,2	K562	blood:
6	chr11:93860234..93863458-chr11:94225545..94228425,3	K562	blood:
7	chr11:93914625..93916953-chr11:94227203..94228744,2	MCF-7	breast:

No data

Variant related genes	Relation type
MRE11A	TF binding region
ANKRD49	TF binding region
ENSG00000134627	Chromatin interaction
ENSG00000110218	Chromatin interaction
ENSG00000196371	Chromatin interaction
ENSG00000020922	Chromatin interaction
ENSG00000168876	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs1009455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1009456	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1061956	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10831240	0.83[GIH][hapmap];0.85[TSI][hapmap]
rs11020790	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020811	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020814	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020817	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020818	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020819	0.83[GIH][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020820	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020822	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828153	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273275	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273755	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285227	0.83[GIH][hapmap];0.85[TSI][hapmap];1.00[ASN][1000 genomes]
rs12285522	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292208	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1270117	1.00[ASN][1000 genomes]
rs12708330	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12708331	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12708332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12708333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12708334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12786310	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12788248	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12788484	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790992	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12793645	0.83[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12794650	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794843	1.00[ASN][1000 genomes]
rs12795215	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12796133	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12796917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12800677	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12802057	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12805023	1.00[ASN][1000 genomes]
rs12805587	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12806594	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12807066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13447612	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13447635	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13447636	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13447640	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13447665	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13447672	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13447713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13447745	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16920263	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16920449	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16920466	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16924595	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16924608	0.83[GIH][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805360	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805365	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2005495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2230273	0.85[TSI][hapmap]
rs34023718	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34132851	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34159027	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34336989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34394615	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34512155	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34558505	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34680397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34704592	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34731173	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34789107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34900271	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34936424	1.00[ASN][1000 genomes]
rs34976180	0.83[GIH][hapmap];1.00[MEX][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35029646	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35079690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35101429	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35203856	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35340764	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35389338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35390767	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35444165	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35575568	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35661972	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35679802	0.87[EUR][1000 genomes]
rs35753481	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35814524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35820823	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35829171	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35931890	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35971942	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36046116	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36072739	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36111467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36155619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107508	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7126380	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs71305374	1.00[ASN][1000 genomes]
rs71460618	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71460619	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71477695	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71477698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71479603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71479604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71479607	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71479608	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71479609	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73521529	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73521530	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73521532	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926138	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936640	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949199	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94225400-94228200	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr11:94225600-94228200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:94225600-94228200	Active TSS	A549	lung
4	chr11:94225600-94228600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:94225800-94228200	Active TSS	Right Atrium	heart
6	chr11:94225800-94228400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:94226000-94228200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:94226000-94228200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr11:94226000-94228200	Active TSS	NHLF	lung
10	chr11:94226000-94228400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:94226000-94228400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:94226200-94228200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:94226200-94228200	Active TSS	HMEC	breast
14	chr11:94227400-94228400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:94227400-94228600	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr11:94227600-94228200	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr11:94227600-94228200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr11:94227600-94228200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr11:94227600-94228200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:94227600-94228200	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr11:94227600-94228200	Flanking Active TSS	Fetal Brain Male	brain
22	chr11:94227600-94228200	Flanking Active TSS	HUVEC	blood vessel
23	chr11:94227600-94228400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr11:94227600-94228400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:94227600-94228600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:94227600-94228600	Flanking Active TSS	Dnd41	blood
27	chr11:94227600-94233400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:94227600-94234800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:94227800-94228200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:94227800-94228200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr11:94227800-94228200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:94227800-94228200	Flanking Active TSS	Osteobl	bone
33	chr11:94227800-94228400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr11:94227800-94228600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr11:94227800-94228600	Enhancers	Fetal Lung	lung
36	chr11:94227800-94229800	Weak transcription	Placenta	Placenta
37	chr11:94227800-94230000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:94227800-94230000	Weak transcription	Fetal Intestine Large	intestine
39	chr11:94227800-94230000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr11:94227800-94230000	Weak transcription	Ovary	ovary
41	chr11:94227800-94230000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:94227800-94230600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr11:94227800-94231000	Weak transcription	Brain Substantia Nigra	brain
44	chr11:94227800-94231200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:94227800-94231200	Weak transcription	Colonic Mucosa	Colon
46	chr11:94227800-94231200	Weak transcription	Esophagus	oesophagus
47	chr11:94227800-94231200	Weak transcription	Left Ventricle	heart
48	chr11:94227800-94231200	Weak transcription	Lung	lung
49	chr11:94227800-94231200	Weak transcription	Right Ventricle	heart
50	chr11:94227800-94231200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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