Variant report

Variant	rs12467411
Chromosome Location	chr2:171873033-171873034
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	chr2:171869112..171873256-chr2:171875582..171877821,4	K562	blood:
2	chr2:171869068..171870901-chr2:171872063..171874094,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10171850	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs1019710	0.81[EUR][1000 genomes]
rs1019711	0.81[EUR][1000 genomes]
rs1035827	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs11682957	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs11696064	0.81[CHB][hapmap]
rs11904750	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs12469418	0.81[EUR][1000 genomes]
rs12469870	0.81[EUR][1000 genomes]
rs12470359	0.81[EUR][1000 genomes]
rs12473741	1.00[ASW][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12477413	0.81[EUR][1000 genomes]
rs12477548	0.81[EUR][1000 genomes]
rs12477555	0.81[EUR][1000 genomes]
rs12477649	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs12478336	0.81[EUR][1000 genomes]
rs12618898	0.80[CHB][hapmap]
rs13410683	0.90[CHB][hapmap]
rs16859050	0.82[CHB][hapmap]
rs16859076	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs16859157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16859189	0.81[EUR][1000 genomes]
rs17505447	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1863679	0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap]
rs1989612	0.81[EUR][1000 genomes]
rs1989613	0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap]
rs2059723	0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2081767	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2081768	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2098999	0.82[CHB][hapmap]
rs2356422	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2356424	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2356517	0.81[EUR][1000 genomes]
rs35614064	0.81[EUR][1000 genomes]
rs3731993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3755124	0.82[CHB][hapmap]
rs3755126	0.82[CHB][hapmap]
rs3770419	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3770436	1.00[ASW][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.82[ASN][1000 genomes]
rs3770439	1.00[CEU][hapmap]
rs4305237	0.81[EUR][1000 genomes]
rs4331471	0.81[EUR][1000 genomes]
rs4365428	0.81[EUR][1000 genomes]
rs4667673	0.82[CHB][hapmap]
rs4668343	0.82[CHB][hapmap]
rs4668354	0.82[CHB][hapmap]
rs57851561	0.81[EUR][1000 genomes]
rs58126203	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58289498	0.81[EUR][1000 genomes]
rs58712847	0.81[EUR][1000 genomes]
rs59083018	0.81[EUR][1000 genomes]
rs60241632	0.81[EUR][1000 genomes]
rs60724749	0.81[EUR][1000 genomes]
rs60729063	0.81[EUR][1000 genomes]
rs60928633	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61233426	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs728456	0.81[EUR][1000 genomes]
rs728457	0.81[EUR][1000 genomes]
rs7421377	0.81[CHB][hapmap]
rs754058	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs7582822	0.81[CHB][hapmap]
rs930035	0.86[CHB][hapmap]
rs930036	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs964172	0.86[CHB][hapmap]

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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171830600-171902800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:171830800-171891400	Weak transcription	Spleen	Spleen
3	chr2:171831400-171879200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:171840800-171879200	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:171841000-171877800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:171841000-171895800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
9	chr2:171842200-171892000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:171842600-171912000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:171843000-171877400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:171846000-171898000	Weak transcription	Psoas Muscle	Psoas
13	chr2:171846200-171901000	Weak transcription	Fetal Brain Male	brain
14	chr2:171847400-171902600	Weak transcription	Brain Angular Gyrus	brain
15	chr2:171847800-171878200	Weak transcription	Stomach Mucosa	stomach
16	chr2:171850400-171892000	Weak transcription	Brain Anterior Caudate	brain
17	chr2:171851800-171881800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:171853200-171898800	Weak transcription	Aorta	Aorta
19	chr2:171854000-171877400	Weak transcription	NHLF	lung
20	chr2:171858000-171891800	Weak transcription	Fetal Brain Female	brain
21	chr2:171858000-171892000	Weak transcription	Brain Substantia Nigra	brain
22	chr2:171859400-171892000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:171859600-171876400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:171859600-171897000	Weak transcription	Esophagus	oesophagus
25	chr2:171860000-171876400	Weak transcription	Fetal Stomach	stomach
26	chr2:171861600-171877400	Weak transcription	A549	lung
27	chr2:171862200-171874600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:171862200-171877400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:171862200-171890600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:171862600-171918400	Weak transcription	Brain Germinal Matrix	brain
31	chr2:171862800-171878600	Weak transcription	HSMMtube	muscle
32	chr2:171862800-171879400	Weak transcription	Thymus	Thymus
33	chr2:171862800-171885400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:171862800-171885800	Weak transcription	Ovary	ovary
35	chr2:171862800-171899000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:171862800-171931200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:171863200-171877400	Weak transcription	NHDF-Ad	bronchial
38	chr2:171863200-171877800	Weak transcription	HUVEC	blood vessel
39	chr2:171863200-171886200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:171863200-171896200	Weak transcription	Hela-S3	cervix
41	chr2:171864200-171878600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:171864600-171876200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:171865800-171905000	Weak transcription	Fetal Heart	heart
44	chr2:171867800-171878800	Weak transcription	Fetal Lung	lung
45	chr2:171867800-171898600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:171867800-171898800	Weak transcription	Colonic Mucosa	Colon
47	chr2:171867800-171916200	Weak transcription	Gastric	stomach
48	chr2:171868000-171890800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:171868200-171875000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:171868200-171879000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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