Variant report

Variant	rs1372812
Chromosome Location	chr11:10254783-10254784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10253231..10255912-chr11:10256898..10258938,2	K562	blood:
2	chr11:10254716..10258095-chr11:10261173..10265097,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10128609	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10128701	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10840370	0.81[AFR][1000 genomes]
rs11042616	1.00[EUR][1000 genomes]
rs11042619	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11042631	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11042651	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11042670	1.00[AFR][1000 genomes]
rs11042672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042684	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11042691	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042694	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042696	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042697	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042698	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042701	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042705	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042706	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042707	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042708	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042709	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042710	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042711	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042715	0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11042722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12269976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12270074	1.00[AMR][1000 genomes]
rs12270278	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12270822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12271159	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12271480	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12272306	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273035	1.00[ASW][hapmap];0.87[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274021	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12277936	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279727	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279936	0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280877	1.00[EUR][1000 genomes]
rs12282728	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285084	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285093	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12287964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12288716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12291188	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12291783	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12292901	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12294052	1.00[EUR][1000 genomes]
rs12294064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13377400	0.96[AFR][1000 genomes]
rs16907612	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16907632	1.00[ASW][hapmap];0.87[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4537746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4625455	0.81[YRI][hapmap]
rs5005	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55919524	1.00[EUR][1000 genomes]
rs56948226	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57138875	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57672320	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57743646	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58354844	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59629505	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59651099	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59709366	1.00[EUR][1000 genomes]
rs59928017	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60051250	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60433518	1.00[AMR][1000 genomes]
rs7942109	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1039636	chr11:10126747-10280570	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10235400-10263400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:10240600-10259800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:10241200-10255200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:10241800-10254800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:10247800-10255200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:10247800-10259200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:10252000-10255200	Weak transcription	Osteobl	bone
8	chr11:10252200-10264200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:10252600-10254800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr11:10252600-10255000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:10253000-10254800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:10253000-10268200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:10253400-10255000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:10253600-10254800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr11:10253800-10256600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr11:10253800-10256800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:10254000-10255200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:10254000-10255200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:10254000-10255600	Enhancers	Primary hematopoietic stem cells	blood
20	chr11:10254000-10258800	Weak transcription	Left Ventricle	heart
21	chr11:10254000-10259800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:10254000-10263400	Weak transcription	Ovary	ovary
23	chr11:10254000-10276200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:10254200-10256000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:10254400-10255000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:10254400-10255200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:10254400-10255200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:10254400-10256200	Enhancers	NHDF-Ad	bronchial
29	chr11:10254400-10256400	Enhancers	NHLF	lung
30	chr11:10254400-10256800	Enhancers	Hela-S3	cervix
31	chr11:10254400-10257400	Weak transcription	Fetal Stomach	stomach
32	chr11:10254400-10277400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr11:10254600-10256200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:10254600-10265800	Weak transcription	Fetal Lung	lung
35	chr11:10254600-10268800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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