Variant report

Variant	rs4944015
Chromosome Location	chr11:72557207-72557208
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	chr11:72436394..72438545-chr11:72556788..72559198,2	K562	blood:
2	chr11:72547760..72550663-chr11:72556425..72558728,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186635	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1025411	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10732893	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10736787	1.00[YRI][hapmap]
rs10736788	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10736789	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10736791	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10751212	1.00[AFR][1000 genomes]
rs10751219	1.00[CEU][hapmap];0.91[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	0.91[EUR][1000 genomes]
rs10898892	0.91[EUR][1000 genomes]
rs11235602	1.00[AFR][1000 genomes]
rs11235608	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12099370	0.91[EUR][1000 genomes]
rs12278657	1.00[AFR][1000 genomes]
rs1367698	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1380574	0.91[EUR][1000 genomes]
rs1380575	0.91[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];0.91[EUR][1000 genomes]
rs2116235	1.00[AFR][1000 genomes]
rs2365906	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2365907	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[YRI][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4329714	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4373969	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4594026	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4643105	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs479093	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944017	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944019	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs494413	1.00[AFR][1000 genomes]
rs4944799	1.00[YRI][hapmap]
rs4944812	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944814	0.91[EUR][1000 genomes]
rs4944817	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4944818	1.00[AFR][1000 genomes]
rs537980	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs55787543	0.91[EUR][1000 genomes]
rs55838097	0.91[EUR][1000 genomes]
rs55888199	0.91[EUR][1000 genomes]
rs560258	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs560857	1.00[AFR][1000 genomes]
rs56133665	0.91[EUR][1000 genomes]
rs56283764	0.91[EUR][1000 genomes]
rs56316448	0.91[EUR][1000 genomes]
rs57731198	0.91[EUR][1000 genomes]
rs593301	1.00[AFR][1000 genomes]
rs59925945	0.91[EUR][1000 genomes]
rs60219481	0.91[EUR][1000 genomes]
rs60812177	0.91[EUR][1000 genomes]
rs60877622	0.91[EUR][1000 genomes]
rs640283	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];0.91[EUR][1000 genomes]
rs6592495	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6592499	1.00[AFR][1000 genomes]
rs6592501	1.00[AFR][1000 genomes]
rs6592502	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs671766	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7101936	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7102424	0.91[EUR][1000 genomes]
rs7115321	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7118144	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7122566	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7122570	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7129851	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7130559	0.91[EUR][1000 genomes]
rs7395081	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7930535	0.91[EUR][1000 genomes]
rs7931372	1.00[AFR][1000 genomes]
rs7937866	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7945119	1.00[AFR][1000 genomes]
rs7946019	0.91[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];0.91[EUR][1000 genomes]
rs898384	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs919600	1.00[AFR][1000 genomes]
rs975261	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9795303	1.00[AFR][1000 genomes]
rs994305	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[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:102 , 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	chr11:72540600-72589800	Strong transcription	Primary B cells from cord blood	blood
3	chr11:72541600-72558400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:72543200-72558200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:72543200-72562200	Weak transcription	A549	lung
6	chr11:72543200-72614800	Weak transcription	Psoas Muscle	Psoas
7	chr11:72543400-72560800	Strong transcription	GM12878-XiMat	blood
8	chr11:72543400-72603000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:72545200-72561000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:72546000-72557600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:72546000-72558000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:72546000-72558600	Strong transcription	Liver	Liver
13	chr11:72546400-72557800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr11:72546600-72561000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:72546800-72559200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:72546800-72561400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:72547400-72561200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr11:72548000-72559600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:72548400-72561000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:72548400-72561000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:72549000-72557600	Strong transcription	Lung	lung
22	chr11:72549600-72558400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:72550000-72600400	Weak transcription	Pancreas	Pancrea
24	chr11:72551200-72563000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:72552000-72567000	Weak transcription	NH-A	brain
26	chr11:72552200-72562000	Weak transcription	Esophagus	oesophagus
27	chr11:72552200-72575400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:72552200-72580400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:72552400-72597400	Weak transcription	HMEC	breast
30	chr11:72552800-72578000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr11:72553400-72567000	Weak transcription	HUVEC	blood vessel
32	chr11:72553600-72576000	Weak transcription	NHEK	skin
33	chr11:72553800-72560600	Weak transcription	Gastric	stomach
34	chr11:72554400-72560000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:72554400-72560200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:72554400-72560200	Weak transcription	Placenta	Placenta
37	chr11:72554400-72564000	Weak transcription	Brain Germinal Matrix	brain
38	chr11:72554400-72567000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr11:72554400-72567000	Weak transcription	Adipose Nuclei	Adipose
40	chr11:72554400-72567200	Weak transcription	Brain Substantia Nigra	brain
41	chr11:72554400-72574200	Weak transcription	Aorta	Aorta
42	chr11:72554400-72576000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr11:72554600-72558400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:72554600-72559800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:72554600-72559800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:72554600-72560000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr11:72554600-72563200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:72554600-72567000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:72554600-72567600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:72554600-72567800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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