Variant report

Variant	rs990309
Chromosome Location	chr12:64448296-64448297
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10444577	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10878102	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11175238	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1162788	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12228437	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1344400	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1378778	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1456046	0.88[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2168411	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2647908	0.87[ASN][1000 genomes]
rs28366579	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4553444	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4763134	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60987129	0.87[ASN][1000 genomes]
rs6581529	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6581530	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.90[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7963940	0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7980267	0.85[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.80[MEX][hapmap];0.90[TSI][hapmap];0.81[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	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64418600-64456400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:64428800-64450800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:64432000-64466400	Weak transcription	Pancreas	Pancrea
4	chr12:64433600-64449600	Weak transcription	Psoas Muscle	Psoas
5	chr12:64433600-64452400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:64433600-64460800	Weak transcription	Aorta	Aorta
7	chr12:64433600-64474200	Weak transcription	Left Ventricle	heart
8	chr12:64433800-64449400	Weak transcription	HSMMtube	muscle
9	chr12:64433800-64452000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:64433800-64458600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:64433800-64460000	Weak transcription	NH-A	brain
12	chr12:64434000-64449400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:64434000-64449800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:64434000-64451800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:64434000-64456600	Weak transcription	HMEC	breast
16	chr12:64434000-64458200	Weak transcription	Fetal Intestine Large	intestine
17	chr12:64434000-64481600	Weak transcription	HUVEC	blood vessel
18	chr12:64434400-64452600	Weak transcription	Fetal Brain Male	brain
19	chr12:64436600-64474200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:64436800-64449400	Weak transcription	Ovary	ovary
21	chr12:64436800-64452800	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:64436800-64458600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:64436800-64458600	Weak transcription	Fetal Stomach	stomach
24	chr12:64436800-64474200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:64437200-64449400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:64437200-64449400	Weak transcription	Fetal Kidney	kidney
27	chr12:64437800-64449400	Weak transcription	Osteobl	bone
28	chr12:64438200-64458200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:64438200-64458400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:64438400-64449400	Weak transcription	Fetal Brain Female	brain
31	chr12:64438800-64449400	Weak transcription	Brain Germinal Matrix	brain
32	chr12:64438800-64449400	Weak transcription	Fetal Heart	heart
33	chr12:64440000-64449400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:64440000-64458400	Weak transcription	Fetal Intestine Small	intestine
35	chr12:64440000-64479200	Weak transcription	Esophagus	oesophagus
36	chr12:64440400-64449400	Weak transcription	NHLF	lung
37	chr12:64440600-64449400	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:64440800-64456200	Weak transcription	NHEK	skin
39	chr12:64441000-64475000	Weak transcription	Hela-S3	cervix
40	chr12:64441400-64458000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:64441600-64449400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:64443400-64449400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:64443800-64450600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:64444200-64448400	Strong transcription	A549	lung
45	chr12:64444400-64449400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:64445000-64449400	Weak transcription	HSMM	muscle
47	chr12:64445200-64449400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr12:64445200-64449400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:64445200-64474200	Weak transcription	Fetal Lung	lung
50	chr12:64445400-64449400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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