Variant report

Variant	rs12631504
Chromosome Location	chr3:119137466-119137467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119137043..119139802-chr3:119141104..119143797,2	K562	blood:
2	chr3:119137060..119139008-chr3:119172885..119175851,2	K562	blood:
3	chr3:119130788..119134912-chr3:119135156..119139620,7	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1132202	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11556604	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12639070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16829809	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17281612	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17281647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17281703	1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs2282173	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2282175	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57509340	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58968288	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59333081	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59551807	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60375691	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60588168	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60671082	0.80[AMR][1000 genomes]
rs61740281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6772534	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6782411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6800924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72968474	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats 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 target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119080000-119145600	Weak transcription	Fetal Kidney	kidney
2	chr3:119082800-119138000	Weak transcription	Small Intestine	intestine
3	chr3:119085200-119139000	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:119098400-119138200	Strong transcription	Adipose Nuclei	Adipose
5	chr3:119110200-119140800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:119112000-119147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:119112200-119138800	Weak transcription	Colonic Mucosa	Colon
8	chr3:119113200-119140400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:119113400-119138000	Strong transcription	Fetal Stomach	stomach
10	chr3:119119000-119138800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:119121200-119150000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:119127200-119138200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:119129000-119138400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:119130200-119139200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:119130600-119138400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:119130800-119143600	Weak transcription	GM12878-XiMat	blood
17	chr3:119132000-119137600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr3:119132400-119137800	Strong transcription	Osteobl	bone
19	chr3:119132800-119138000	Strong transcription	Lung	lung
20	chr3:119133600-119140400	Weak transcription	NHLF	lung
21	chr3:119133800-119147400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:119134000-119138200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:119134200-119148800	Weak transcription	Pancreas	Pancrea
24	chr3:119134400-119138800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr3:119134600-119147600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:119134800-119139400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr3:119134800-119147400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:119135000-119137600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:119135000-119137600	Weak transcription	Left Ventricle	heart
30	chr3:119135000-119139000	Weak transcription	Fetal Intestine Small	intestine
31	chr3:119135000-119139200	Weak transcription	Right Atrium	heart
32	chr3:119135000-119140800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:119135000-119147400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr3:119135000-119147600	Weak transcription	Fetal Thymus	thymus
35	chr3:119135000-119147800	Weak transcription	Placenta	Placenta
36	chr3:119135000-119148000	Weak transcription	Aorta	Aorta
37	chr3:119135200-119139200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr3:119135200-119139600	Weak transcription	Fetal Muscle Leg	muscle
39	chr3:119135200-119139800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:119135200-119140800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr3:119135200-119145000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:119135200-119149800	Weak transcription	Gastric	stomach
43	chr3:119135400-119137800	Weak transcription	Fetal Lung	lung
44	chr3:119135400-119139000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:119135400-119139000	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:119135400-119145600	Weak transcription	HUVEC	blood vessel
47	chr3:119135400-119147800	Weak transcription	Ovary	ovary
48	chr3:119135400-119148000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:119135400-119150000	Weak transcription	Spleen	Spleen
50	chr3:119135600-119139200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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