Variant report

Variant	rs2281007
Chromosome Location	chr1:171111351-171111352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10489229	0.82[CHD][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1080197	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11809504	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11812044	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402295	0.84[CHB][hapmap]
rs12403297	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12404455	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12405599	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12406572	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17564980	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17565336	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17565579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17565766	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17565793	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17565983	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17565990	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17566256	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17623477	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17623598	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17623833	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17640463	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2066529	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2142630	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2266780	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2272797	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2272799	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2272800	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2281006	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28363530	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28363536	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28363537	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28363541	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28363571	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35156637	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3817765	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs55639094	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57147275	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57519348	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57678907	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58044560	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58374074	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58509777	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59184216	0.96[ASN][1000 genomes]
rs6608452	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6608453	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6608454	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7051747	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7054839	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7061710	0.91[ASN][1000 genomes]
rs7063044	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7066454	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712649	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72712658	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72712685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7879557	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7885569	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7886938	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7887142	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7889807	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7889839	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs909531	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171107200-171111400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:171107200-171111400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:171107800-171112400	Enhancers	Fetal Muscle Leg	muscle
4	chr1:171108000-171112600	Weak transcription	Small Intestine	intestine
5	chr1:171108400-171112800	Enhancers	NHLF	lung
6	chr1:171108800-171112400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:171108800-171112800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:171109000-171112200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:171109000-171112200	Enhancers	Stomach Mucosa	stomach
10	chr1:171109200-171112000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr1:171109200-171112200	Weak transcription	Psoas Muscle	Psoas
12	chr1:171109200-171112400	Enhancers	Fetal Stomach	stomach
13	chr1:171109400-171112000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:171109400-171112800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:171109800-171111800	Weak transcription	Brain Angular Gyrus	brain
16	chr1:171110200-171111600	Enhancers	Brain Hippocampus Middle	brain
17	chr1:171110200-171112200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr1:171110200-171112400	Enhancers	Osteobl	bone
19	chr1:171110400-171112000	Enhancers	HSMMtube	muscle
20	chr1:171110400-171112000	Enhancers	NH-A	brain
21	chr1:171110400-171112200	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr1:171110600-171111400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:171110600-171111400	Enhancers	Left Ventricle	heart
24	chr1:171110600-171111600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:171110600-171112400	Enhancers	HepG2	liver
26	chr1:171110800-171111400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:171110800-171111400	Enhancers	Fetal Muscle Trunk	muscle
28	chr1:171110800-171111800	Weak transcription	Fetal Kidney	kidney
29	chr1:171110800-171112000	Weak transcription	Right Atrium	heart
30	chr1:171110800-171112400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:171110800-171114600	Enhancers	Fetal Lung	lung
32	chr1:171111000-171111400	Active TSS	Adipose Nuclei	Adipose
33	chr1:171111000-171111400	Flanking Active TSS	Liver	Liver
34	chr1:171111000-171111400	Enhancers	Colon Smooth Muscle	Colon
35	chr1:171111000-171111400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:171111000-171112000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:171111000-171112000	Weak transcription	Fetal Intestine Large	intestine
38	chr1:171111000-171112200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:171111000-171112400	Enhancers	Ovary	ovary
40	chr1:171111200-171111400	Enhancers	Rectal Smooth Muscle	rectum
41	chr1:171111200-171111600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr1:171111200-171111600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:171111200-171111800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr1:171111200-171111800	Enhancers	HSMM	muscle
45	chr1:171111200-171112000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:171111200-171112000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:171111200-171112000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr1:171111200-171112000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:171111200-171112200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:171111200-171112200	Flanking Active TSS	NHDF-Ad	bronchial

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