Variant report

Variant	rs1338189
Chromosome Location	chr1:67030831-67030832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10493412	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10789209	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10889628	0.91[CEU][hapmap]
rs10889630	1.00[CEU][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10889631	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10889632	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10889646	0.86[CEU][hapmap]
rs11208921	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11208933	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11208935	0.82[EUR][1000 genomes]
rs11208943	0.85[CEU][hapmap]
rs11208946	0.85[CEU][hapmap]
rs1159632	1.00[CEU][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12072369	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12077192	0.82[EUR][1000 genomes]
rs12081718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12117202	1.00[CEU][hapmap]
rs12124223	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12137531	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12141816	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1325262	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1338188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1338190	0.92[CEU][hapmap]
rs17129256	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17436311	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1813888	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2025594	0.86[CEU][hapmap]
rs41309179	0.81[ASN][1000 genomes]
rs4147266	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55830106	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56283052	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56374735	0.82[EUR][1000 genomes]
rs6687096	1.00[CEU][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6699200	0.92[CEU][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72669456	0.82[EUR][1000 genomes]
rs72670253	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7515818	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7530439	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7548488	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs975878	0.92[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][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	nsv1210	chr1:67017295-67033203	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67025000-67031600	Enhancers	Fetal Lung	lung
2	chr1:67027200-67032000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:67027400-67031400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:67028600-67031000	Enhancers	HMEC	breast
5	chr1:67028800-67031400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:67029200-67033600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:67029200-67042600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:67029400-67040800	Weak transcription	Brain Anterior Caudate	brain
9	chr1:67029400-67041400	Weak transcription	Left Ventricle	heart
10	chr1:67029600-67041400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:67029600-67041600	Weak transcription	Aorta	Aorta
12	chr1:67029800-67031000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:67029800-67032000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:67029800-67040200	Weak transcription	Fetal Heart	heart
15	chr1:67030000-67031000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:67030000-67031000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:67030000-67031000	Enhancers	NHLF	lung
18	chr1:67030000-67031200	Enhancers	Osteobl	bone
19	chr1:67030000-67031400	Enhancers	Hela-S3	cervix
20	chr1:67030000-67031400	Enhancers	HUVEC	blood vessel
21	chr1:67030000-67036400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:67030400-67031600	Enhancers	NHDF-Ad	bronchial
23	chr1:67030600-67031000	Enhancers	NHEK	skin
24	chr1:67030600-67031600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:67030800-67032000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:67030800-67035600	Weak transcription	NH-A	brain
27	chr1:67030800-67036200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:67030800-67037400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:67030800-67037400	Weak transcription	HSMM	muscle

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