Variant report

Variant	rs160797
Chromosome Location	chr2:32135957-32135958
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32134403..32136134-chr2:32140450..32142713,2	K562	blood:
2	chr2:32134988..32137864-chr2:32139135..32141147,3	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10439444	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10490360	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs11124274	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs11124275	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs11676938	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs1272585	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12989936	0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap]
rs13017189	0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap]
rs160801	0.86[CHB][hapmap];0.92[CHD][hapmap];0.91[JPT][hapmap]
rs160804	0.82[EUR][1000 genomes]
rs160805	0.82[EUR][1000 genomes]
rs17767988	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs1904489	0.95[ASN][1000 genomes]
rs1986134	0.86[ASN][1000 genomes]
rs216544	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs223621	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap]
rs223665	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap]
rs2280967	0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap]
rs2365555	0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap]
rs2366297	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs28797569	0.82[EUR][1000 genomes]
rs3769604	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs3769606	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs41280625	0.88[ASN][1000 genomes]
rs467523	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap]
rs55730514	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62142079	0.86[ASN][1000 genomes]
rs62142080	0.88[ASN][1000 genomes]
rs6725184	0.86[CHD][hapmap];0.87[JPT][hapmap]
rs6737500	0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs6748621	0.81[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap]
rs6752375	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs6758024	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs6760105	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs7561519	0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs7566162	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7577696	0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap]
rs7586448	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs7601267	0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap]
rs7605242	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs9752651	0.84[ASN][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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv873777	chr2:32019747-32197123	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs160797	RASGRP3	cis	parietal	SCAN
rs160797	NLRC4	cis	lymphoblastoid	seeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32061600-32172800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:32064600-32142400	Weak transcription	NHDF-Ad	bronchial
3	chr2:32075800-32170000	Weak transcription	Aorta	Aorta
4	chr2:32086600-32174400	Weak transcription	NHLF	lung
5	chr2:32088000-32157600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:32089400-32160000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:32099600-32193000	Weak transcription	Hela-S3	cervix
8	chr2:32100800-32147800	Weak transcription	Spleen	Spleen
9	chr2:32105400-32146600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:32107200-32167600	Weak transcription	Left Ventricle	heart
11	chr2:32114400-32153800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:32115400-32139000	Weak transcription	Brain Angular Gyrus	brain
13	chr2:32116200-32173000	Weak transcription	HSMMtube	muscle
14	chr2:32116600-32143000	Weak transcription	Colonic Mucosa	Colon
15	chr2:32116800-32136200	Weak transcription	Brain Anterior Caudate	brain
16	chr2:32116800-32144800	Weak transcription	NHEK	skin
17	chr2:32116800-32148000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:32116800-32166200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:32116800-32169400	Weak transcription	Small Intestine	intestine
20	chr2:32116800-32182200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:32117000-32205200	Weak transcription	NH-A	brain
22	chr2:32117400-32144800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:32118000-32145000	Weak transcription	HSMM	muscle
24	chr2:32118600-32170600	Weak transcription	Gastric	stomach
25	chr2:32119200-32181400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:32119800-32144600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:32119800-32144800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:32119800-32146400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:32122600-32146400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:32124000-32136000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:32124000-32144200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:32124000-32146400	Weak transcription	Brain Substantia Nigra	brain
33	chr2:32124400-32146600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:32125200-32144800	Weak transcription	Pancreas	Pancrea
35	chr2:32126200-32142400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:32126200-32170400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:32127000-32141600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:32127400-32141800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:32127400-32147000	Weak transcription	Right Ventricle	heart
40	chr2:32127400-32151400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:32127400-32160400	Weak transcription	Thymus	Thymus
42	chr2:32127400-32190200	Weak transcription	Lung	lung
43	chr2:32127600-32136200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:32127600-32138800	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:32127600-32144200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:32127600-32144400	Weak transcription	Fetal Lung	lung
47	chr2:32127600-32151200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:32127600-32152200	Weak transcription	Fetal Brain Female	brain
49	chr2:32127600-32156000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:32127600-32165600	Weak transcription	Dnd41	blood

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