Variant report

Variant	rs994305
Chromosome Location	chr11:72597318-72597319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72596402..72598157-chr11:72611052..72613904,2	K562	blood:

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

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[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[YRI][hapmap]
rs2365908	1.00[AFR][1000 genomes]
rs2365909	1.00[AFR][1000 genomes]
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[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]
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[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[YRI][hapmap]
rs4944812	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944814	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4944817	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]
rs4944818	1.00[AFR][1000 genomes]
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[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[YRI][hapmap];1.00[AFR][1000 genomes]
rs7129851	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7130559	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]
rs7937866	1.00[ASW][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]

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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72540200-72616600	Strong transcription	Primary B cells from peripheral blood	blood
2	chr11:72543200-72614800	Weak transcription	Psoas Muscle	Psoas
3	chr11:72543400-72603000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:72550000-72600400	Weak transcription	Pancreas	Pancrea
5	chr11:72552400-72597400	Weak transcription	HMEC	breast
6	chr11:72567200-72612200	Weak transcription	Small Intestine	intestine
7	chr11:72575000-72599200	Weak transcription	Hela-S3	cervix
8	chr11:72576800-72602400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:72577200-72651600	Weak transcription	Gastric	stomach
10	chr11:72577400-72599600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:72578400-72597600	Weak transcription	NHDF-Ad	bronchial
12	chr11:72581200-72597600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:72581200-72600600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:72581200-72602800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:72581200-72609000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:72581400-72600400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:72581800-72619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:72582600-72598400	Weak transcription	Fetal Kidney	kidney
19	chr11:72582600-72622000	Weak transcription	Fetal Heart	heart
20	chr11:72582800-72605800	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:72586200-72601000	Weak transcription	Fetal Brain Male	brain
22	chr11:72587200-72602200	Weak transcription	Esophagus	oesophagus
23	chr11:72591400-72601400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:72592800-72601200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:72593200-72601600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:72593200-72615000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr11:72593200-72616200	Strong transcription	Primary B cells from cord blood	blood
28	chr11:72593400-72601400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr11:72593600-72601200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:72594000-72601400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:72594000-72601400	Strong transcription	Dnd41	blood
32	chr11:72594000-72602800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:72594200-72619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:72594400-72602200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:72594600-72600800	Strong transcription	Fetal Intestine Large	intestine
36	chr11:72594600-72601200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:72594800-72598200	Weak transcription	NH-A	brain
38	chr11:72594800-72613800	Weak transcription	Colonic Mucosa	Colon
39	chr11:72595000-72600400	Weak transcription	K562	blood
40	chr11:72595400-72602200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:72595600-72597800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:72595600-72598200	Strong transcription	Lung	lung
43	chr11:72595600-72599000	Strong transcription	Thymus	Thymus
44	chr11:72595600-72601000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:72595600-72601200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr11:72595600-72601400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:72595800-72597600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:72595800-72599600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr11:72595800-72599800	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr11:72595800-72600800	Strong transcription	Placenta	Placenta

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