Variant report

Variant	rs12081718
Chromosome Location	chr1:67029558-67029559
allele	C/G
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];0.82[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10789209	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10889628	0.90[CEU][hapmap]
rs10889630	1.00[CEU][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10889631	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10889632	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10889646	0.85[CEU][hapmap]
rs11208921	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11208933	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs11208935	0.80[EUR][1000 genomes]
rs11208943	0.85[CEU][hapmap];0.90[TSI][hapmap]
rs11208946	0.85[CEU][hapmap];0.90[TSI][hapmap]
rs1159632	1.00[CEU][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12072369	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12077192	0.80[EUR][1000 genomes]
rs12117202	1.00[CEU][hapmap]
rs12124223	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12137531	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs12141816	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1325262	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs1338188	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1338189	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]
rs1338190	0.91[CEU][hapmap]
rs17129256	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17436311	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1813888	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2025594	0.85[CEU][hapmap]
rs41309179	0.81[ASN][1000 genomes]
rs4147266	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55830106	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56283052	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56374735	0.80[EUR][1000 genomes]
rs6687096	1.00[CEU][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6699200	0.91[CEU][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72669456	0.80[EUR][1000 genomes]
rs72670253	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7515818	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7530439	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7548488	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs975878	0.91[CEU][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.98[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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67000800-67029800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:67011800-67029800	Weak transcription	Fetal Brain Male	brain
3	chr1:67025000-67031600	Enhancers	Fetal Lung	lung
4	chr1:67027200-67029600	Enhancers	Aorta	Aorta
5	chr1:67027200-67030200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:67027200-67032000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:67027400-67031400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:67027800-67029600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:67027800-67029600	Enhancers	Brain Cingulate Gyrus	brain
10	chr1:67028000-67029600	Enhancers	Brain Hippocampus Middle	brain
11	chr1:67028000-67029800	Enhancers	Fetal Heart	heart
12	chr1:67028200-67029600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:67028200-67029600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:67028200-67030000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr1:67028200-67030000	Enhancers	Brain Angular Gyrus	brain
16	chr1:67028200-67030000	Enhancers	Placenta	Placenta
17	chr1:67028200-67030000	Flanking Active TSS	NHDF-Ad	bronchial
18	chr1:67028200-67030200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:67028200-67030200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:67028400-67029600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:67028400-67029800	Enhancers	Fetal Stomach	stomach
22	chr1:67028400-67030000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:67028400-67030200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:67028600-67030000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:67028600-67030400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:67028600-67030600	Enhancers	Adipose Nuclei	Adipose
27	chr1:67028600-67030800	Weak transcription	Brain Germinal Matrix	brain
28	chr1:67028600-67031000	Enhancers	HMEC	breast
29	chr1:67028800-67029600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:67028800-67029600	Flanking Active TSS	HSMM	muscle
31	chr1:67028800-67029800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr1:67028800-67029800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:67028800-67029800	Enhancers	Brain Substantia Nigra	brain
34	chr1:67028800-67030000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:67028800-67030000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:67028800-67030000	Flanking Active TSS	HSMMtube	muscle
37	chr1:67028800-67030000	Flanking Active TSS	HUVEC	blood vessel
38	chr1:67028800-67030000	Flanking Active TSS	NH-A	brain
39	chr1:67028800-67030000	Flanking Active TSS	NHEK	skin
40	chr1:67028800-67030000	Flanking Active TSS	Osteobl	bone
41	chr1:67028800-67030400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr1:67028800-67030600	Enhancers	Colon Smooth Muscle	Colon
43	chr1:67028800-67030800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:67028800-67031400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:67029000-67029600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr1:67029000-67029800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr1:67029000-67030200	Enhancers	Fetal Kidney	kidney
48	chr1:67029200-67029600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:67029200-67029600	Enhancers	NHLF	lung
50	chr1:67029200-67029800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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