Variant report

Variant	rs537980
Chromosome Location	chr11:72691244-72691245
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	chr11:72689559..72692269-chr11:72695713..72698108,2	K562	blood:
2	chr11:72686975..72688834-chr11:72691101..72692704,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1025411	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10736787	1.00[YRI][hapmap]
rs10736789	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10751212	1.00[AFR][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]
rs11235602	1.00[AFR][1000 genomes]
rs12278657	1.00[AFR][1000 genomes]
rs1367698	1.00[YRI][hapmap];1.00[AFR][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]
rs2116235	1.00[AFR][1000 genomes]
rs2365906	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][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[YRI][hapmap];1.00[AFR][1000 genomes]
rs4329714	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4373969	1.00[AFR][1000 genomes]
rs4594026	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4643105	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs479093	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944015	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944017	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][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]
rs4944817	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944818	1.00[AFR][1000 genomes]
rs560258	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs560857	1.00[AFR][1000 genomes]
rs593301	1.00[AFR][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]
rs6592499	1.00[AFR][1000 genomes]
rs6592501	1.00[AFR][1000 genomes]
rs671766	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7101936	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7115321	1.00[AFR][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]
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]
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]
rs919600	1.00[AFR][1000 genomes]
rs9795303	1.00[AFR][1000 genomes]
rs994305	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	esv2422418	chr11:72646518-72807865	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv555411	chr11:72647296-72800970	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72636200-72694800	Weak transcription	Adipose Nuclei	Adipose
2	chr11:72636400-72712600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:72637000-72721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:72649000-72721600	Weak transcription	Thymus	Thymus
5	chr11:72651400-72696600	Weak transcription	Brain Anterior Caudate	brain
6	chr11:72666600-72721600	Weak transcription	Lung	lung
7	chr11:72667000-72700600	Weak transcription	Brain Angular Gyrus	brain
8	chr11:72669800-72721800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:72673000-72708000	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:72675000-72692000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:72675000-72692800	Weak transcription	HepG2	liver
12	chr11:72675200-72700600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:72675600-72696600	Weak transcription	Brain Substantia Nigra	brain
14	chr11:72675600-72696800	Weak transcription	Fetal Kidney	kidney
15	chr11:72675800-72700800	Weak transcription	Spleen	Spleen
16	chr11:72681800-72720200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:72682000-72695000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:72682000-72695600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:72682000-72701400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:72682000-72710600	Weak transcription	Aorta	Aorta
21	chr11:72682200-72695200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:72682200-72696600	Weak transcription	Colonic Mucosa	Colon
23	chr11:72682600-72696600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:72682800-72697200	Weak transcription	K562	blood
25	chr11:72682800-72700800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:72682800-72721600	Weak transcription	Right Ventricle	heart
27	chr11:72683000-72694800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr11:72683000-72706600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:72684000-72692600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:72684000-72701000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:72684000-72712800	Weak transcription	Small Intestine	intestine
32	chr11:72684000-72721600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:72684200-72694800	Weak transcription	Fetal Heart	heart
34	chr11:72684200-72695200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:72684200-72696600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:72684400-72692000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:72685400-72692200	Weak transcription	Left Ventricle	heart
38	chr11:72685600-72696800	Weak transcription	Ovary	ovary
39	chr11:72685800-72692200	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:72685800-72692200	Weak transcription	HSMMtube	muscle
41	chr11:72686600-72721600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:72687400-72697200	Weak transcription	Hela-S3	cervix
43	chr11:72687400-72697400	Weak transcription	NHEK	skin
44	chr11:72687400-72700600	Weak transcription	NH-A	brain
45	chr11:72687600-72692000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:72687600-72692200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:72687600-72693000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr11:72687600-72693000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:72687600-72694800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr11:72687600-72694800	Weak transcription	Osteobl	bone

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