Variant report

Variant	rs4944817
Chromosome Location	chr11:72642949-72642950
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	chr11:72642359..72644585-chr11:72662494..72664932,2	MCF-7	breast:

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs1025411	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10732893	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10736787	1.00[YRI][hapmap]
rs10736788	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10736789	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10736791	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10751212	1.00[AFR][1000 genomes]
rs10751219	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10751220	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10751221	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10751223	1.00[YRI][hapmap]
rs10898882	1.00[AFR][1000 genomes]
rs10898888	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10898892	1.00[EUR][1000 genomes]
rs11235602	1.00[AFR][1000 genomes]
rs11235608	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11824394	1.00[EUR][1000 genomes]
rs12099370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12278657	1.00[AFR][1000 genomes]
rs1367698	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1380574	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1380575	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1681501	1.00[AFR][1000 genomes]
rs1785219	1.00[AFR][1000 genomes]
rs1808621	1.00[AFR][1000 genomes]
rs1982038	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2043156	1.00[AFR][1000 genomes]
rs2060072	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2116235	1.00[AFR][1000 genomes]
rs2365906	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][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]
rs2365907	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2365908	1.00[AFR][1000 genomes]
rs2365909	1.00[AFR][1000 genomes]
rs2449665	1.00[MKK][hapmap]
rs3862793	1.00[AFR][1000 genomes]
rs3862795	1.00[AFR][1000 genomes]
rs3903492	1.00[CEU][hapmap];1.00[GIH][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]
rs4329714	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4373969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4594026	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4643105	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs479093	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs493315	1.00[MKK][hapmap]
rs4944015	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4944017	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944019	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs494413	1.00[AFR][1000 genomes]
rs4944799	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs4944811	1.00[MKK][hapmap]
rs4944812	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944814	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4944818	1.00[AFR][1000 genomes]
rs4944824	1.00[MKK][hapmap]
rs508532	1.00[MKK][hapmap]
rs537980	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs55787543	1.00[EUR][1000 genomes]
rs55838097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55888199	1.00[EUR][1000 genomes]
rs560258	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs560857	1.00[AFR][1000 genomes]
rs56133665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56154220	1.00[EUR][1000 genomes]
rs56283764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56316448	1.00[EUR][1000 genomes]
rs57731198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58192366	1.00[EUR][1000 genomes]
rs593301	1.00[AFR][1000 genomes]
rs59925945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60219481	1.00[EUR][1000 genomes]
rs60812177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60877622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs640283	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs658164	1.00[AFR][1000 genomes]
rs6592488	1.00[AFR][1000 genomes]
rs6592492	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6592493	1.00[AFR][1000 genomes]
rs6592494	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6592495	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6592499	1.00[AFR][1000 genomes]
rs6592501	1.00[AFR][1000 genomes]
rs6592502	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs671766	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7101936	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7102424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7107817	1.00[EUR][1000 genomes]
rs7115321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7117786	1.00[EUR][1000 genomes]
rs7118144	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7122566	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122570	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7129851	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7130559	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs72984941	0.83[EUR][1000 genomes]
rs72984946	1.00[EUR][1000 genomes]
rs72984947	1.00[EUR][1000 genomes]
rs72984948	1.00[EUR][1000 genomes]
rs7395081	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7930535	1.00[EUR][1000 genomes]
rs7931372	1.00[AFR][1000 genomes]
rs7936863	1.00[MKK][hapmap]
rs7937866	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7945119	1.00[AFR][1000 genomes]
rs7946019	1.00[EUR][1000 genomes]
rs7947513	1.00[AFR][1000 genomes]
rs7948244	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7950432	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7951614	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs898384	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs919600	1.00[AFR][1000 genomes]
rs975261	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9795303	1.00[AFR][1000 genomes]
rs994305	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72577200-72651600	Weak transcription	Gastric	stomach
2	chr11:72600800-72653200	Weak transcription	Lung	lung
3	chr11:72607000-72643000	Weak transcription	HSMM	muscle
4	chr11:72612400-72649000	Weak transcription	Aorta	Aorta
5	chr11:72621000-72651000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:72623600-72643400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:72624200-72654400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:72624400-72652000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:72625600-72646000	Weak transcription	Fetal Lung	lung
10	chr11:72628800-72649000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:72630800-72662400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:72631200-72643200	Weak transcription	Placenta	Placenta
13	chr11:72631600-72646400	Weak transcription	Small Intestine	intestine
14	chr11:72633000-72643200	Weak transcription	NHEK	skin
15	chr11:72633000-72645400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:72633000-72648600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:72633000-72654400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr11:72633000-72680000	Weak transcription	Dnd41	blood
19	chr11:72633000-72684000	Weak transcription	Primary T cells from cord blood	blood
20	chr11:72633200-72651600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:72633200-72668400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:72633400-72646800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:72633400-72679400	Weak transcription	Fetal Thymus	thymus
24	chr11:72634000-72648600	Weak transcription	HepG2	liver
25	chr11:72636200-72643200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:72636200-72694800	Weak transcription	Adipose Nuclei	Adipose
27	chr11:72636400-72680200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:72636400-72712600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:72636600-72645800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr11:72637000-72721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:72637200-72653200	Weak transcription	Psoas Muscle	Psoas
32	chr11:72637400-72666000	Weak transcription	Ovary	ovary
33	chr11:72637400-72666400	Weak transcription	Right Ventricle	heart
34	chr11:72637600-72646200	Weak transcription	Fetal Intestine Small	intestine
35	chr11:72637600-72646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:72637600-72651600	Weak transcription	Left Ventricle	heart
37	chr11:72637800-72646800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:72638600-72643000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:72639000-72646800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:72639000-72646800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:72640200-72644800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr11:72640400-72649400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr11:72640400-72652400	Strong transcription	GM12878-XiMat	blood
44	chr11:72641000-72649600	Weak transcription	Brain Anterior Caudate	brain
45	chr11:72641200-72650800	Weak transcription	Brain Angular Gyrus	brain
46	chr11:72641200-72654400	Weak transcription	Fetal Kidney	kidney
47	chr11:72641400-72643200	Weak transcription	NH-A	brain
48	chr11:72641400-72651000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:72641600-72643000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:72641600-72643000	Weak transcription	Brain Hippocampus Middle	brain

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