Variant report

Variant	rs7514634
Chromosome Location	chr1:169957164-169957165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10800494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10800495	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10919270	0.93[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10919271	0.94[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs10919272	0.93[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs10919284	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10919285	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10919289	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10919291	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10919292	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11803298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11804170	0.94[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs11807267	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11807405	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12116880	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12123693	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12124607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12126204	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12131429	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12137754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12143011	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12144417	0.85[JPT][hapmap]
rs12146137	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12401321	0.81[ASN][1000 genomes]
rs12750962	0.90[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs12754717	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12760433	0.82[CEU][hapmap]
rs1360293	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17349726	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1983986	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2273457	1.00[JPT][hapmap]
rs28854261	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34866861	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35414012	0.82[ASN][1000 genomes]
rs35688996	0.89[CEU][hapmap];0.85[JPT][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4656729	0.84[JPT][hapmap]
rs6427229	0.80[CEU][hapmap];0.81[CHB][hapmap]
rs6427233	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6657512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6658442	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6670191	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6674620	0.85[JPT][hapmap]
rs6678382	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6688806	0.81[CEU][hapmap]
rs6694135	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs688100	0.85[JPT][hapmap]
rs74122428	0.82[ASN][1000 genomes]
rs7521273	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7540497	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7552710	0.82[CEU][hapmap]
rs7555871	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1013271	chr1:169892661-169960549	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997289	chr1:169899427-169960549	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1012520	chr1:169899427-169969444	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1004999	chr1:169901733-169960549	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1005982	chr1:169913597-169958219	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1001013	chr1:169913597-169960549	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1009789	chr1:169917450-169960549	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1010370	chr1:169917450-169980951	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1012534	chr1:169924759-169965106	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 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	chr1:169904000-170010400	Weak transcription	Aorta	Aorta
2	chr1:169911800-169968400	Weak transcription	Psoas Muscle	Psoas
3	chr1:169912000-169966000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:169912000-169968600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:169912800-169967200	Weak transcription	NHDF-Ad	bronchial
6	chr1:169913800-169968400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:169914000-169968400	Weak transcription	Ovary	ovary
8	chr1:169914600-169961800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:169914600-169968000	Weak transcription	Fetal Stomach	stomach
10	chr1:169914800-169984000	Weak transcription	Left Ventricle	heart
11	chr1:169914800-169984800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:169914800-169988800	Weak transcription	Fetal Intestine Small	intestine
13	chr1:169921600-169968400	Weak transcription	Fetal Brain Male	brain
14	chr1:169922000-169984000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:169922200-169968400	Weak transcription	Brain Angular Gyrus	brain
16	chr1:169922400-169996400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:169930400-169968400	Weak transcription	Small Intestine	intestine
18	chr1:169935600-169968400	Weak transcription	Fetal Kidney	kidney
19	chr1:169938000-169968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:169938200-169965400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:169938800-169962200	Weak transcription	Esophagus	oesophagus
22	chr1:169939000-169968400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:169939200-169967400	Weak transcription	Osteobl	bone
24	chr1:169944800-169968000	Weak transcription	Brain Substantia Nigra	brain
25	chr1:169944800-169989600	Weak transcription	Thymus	Thymus
26	chr1:169945400-169968400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:169945800-169975000	Weak transcription	GM12878-XiMat	blood
28	chr1:169946400-169968400	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:169947000-169968000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:169947200-169968000	Weak transcription	Brain Anterior Caudate	brain
31	chr1:169948200-169959800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:169948800-169968200	Weak transcription	HSMMtube	muscle
33	chr1:169949400-169968000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:169951200-169967800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:169951600-169965800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:169951600-170011800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr1:169951800-169961800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:169951800-169965800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:169951800-169975000	Weak transcription	Dnd41	blood
40	chr1:169951800-169975200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:169951800-169984800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:169952000-169965600	Weak transcription	Primary T cells from cord blood	blood
43	chr1:169952000-169983200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr1:169952000-169984600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:169952000-169985200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:169952000-170018000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:169952200-169958000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:169952200-169983000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:169952400-169960200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:169952400-169967800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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