Variant report

Variant	rs4316386
Chromosome Location	chr1:197515777-197515778
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10442656	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10442660	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10494758	0.94[EUR][1000 genomes]
rs10737692	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10754224	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10754225	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10801614	1.00[CHB][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10922234	0.90[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap]
rs10922251	0.95[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs10922253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10922255	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10922256	0.92[EUR][1000 genomes]
rs10922257	0.92[EUR][1000 genomes]
rs10922258	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10922261	0.84[CHB][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes]
rs10922262	0.92[EUR][1000 genomes]
rs12022672	0.85[EUR][1000 genomes]
rs12025476	0.94[EUR][1000 genomes]
rs12028758	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12041661	0.95[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs12116508	0.84[EUR][1000 genomes]
rs12116519	0.92[EUR][1000 genomes]
rs12125739	0.94[EUR][1000 genomes]
rs12127378	0.82[EUR][1000 genomes]
rs12131160	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs12133885	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12134409	0.81[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap]
rs12563307	0.90[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap]
rs12563879	0.94[EUR][1000 genomes]
rs12565840	0.92[EUR][1000 genomes]
rs12731480	0.94[EUR][1000 genomes]
rs12744898	0.95[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs12747786	0.92[EUR][1000 genomes]
rs1342696	0.85[ASN][1000 genomes]
rs1362939	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1421397	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1578718	0.85[ASN][1000 genomes]
rs1578720	0.95[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs1747811	0.95[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs1747814	0.87[ASN][1000 genomes]
rs1747818	0.84[ASN][1000 genomes]
rs1747822	0.85[ASN][1000 genomes]
rs1747826	0.81[EUR][1000 genomes]
rs1747827	0.81[EUR][1000 genomes]
rs17554990	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs17565558	0.81[EUR][1000 genomes]
rs17622452	0.92[EUR][1000 genomes]
rs1775446	0.84[ASN][1000 genomes]
rs1775450	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1775451	0.81[EUR][1000 genomes]
rs1775453	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1775454	0.85[ASN][1000 genomes]
rs1775458	0.85[ASN][1000 genomes]
rs1775459	0.85[ASN][1000 genomes]
rs1775460	0.85[ASN][1000 genomes]
rs1775462	0.85[ASN][1000 genomes]
rs1775468	0.85[ASN][1000 genomes]
rs1775470	0.81[EUR][1000 genomes]
rs1833464	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1891497	0.94[CEU][hapmap];0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs1969	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2016722	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2111931	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2160969	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2193733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2193734	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2253257	0.88[ASN][1000 genomes]
rs2358774	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2476019	0.82[CEU][hapmap];0.90[JPT][hapmap]
rs2476023	0.81[CEU][hapmap]
rs2477069	0.85[ASN][1000 genomes]
rs2477070	0.81[EUR][1000 genomes]
rs2477071	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2477074	0.82[EUR][1000 genomes]
rs2477075	0.94[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs2477076	0.81[EUR][1000 genomes]
rs2477553	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2488387	0.89[ASN][1000 genomes]
rs2488390	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2488394	0.85[ASN][1000 genomes]
rs2488395	0.85[ASN][1000 genomes]
rs2488400	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs2488409	0.89[ASN][1000 genomes]
rs2488410	0.81[EUR][1000 genomes]
rs2488411	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2494269	0.82[JPT][hapmap]
rs2759656	0.81[CEU][hapmap]
rs2759661	0.82[CEU][hapmap];0.82[JPT][hapmap]
rs2821107	0.81[CEU][hapmap]
rs2821117	0.81[CEU][hapmap]
rs2821132	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs34261593	0.94[EUR][1000 genomes]
rs3814321	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4303099	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4915550	0.94[EUR][1000 genomes]
rs4915552	0.93[EUR][1000 genomes]
rs4915554	0.91[EUR][1000 genomes]
rs4915555	0.92[EUR][1000 genomes]
rs4915557	0.85[EUR][1000 genomes]
rs4915558	0.85[EUR][1000 genomes]
rs61829272	0.89[EUR][1000 genomes]
rs61829341	0.82[EUR][1000 genomes]
rs6428410	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6428411	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6428412	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6672023	0.92[EUR][1000 genomes]
rs6676073	0.92[EUR][1000 genomes]
rs6676795	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6677361	0.89[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6682689	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6685222	0.81[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap]
rs6688993	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6689216	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6691173	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6698921	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7523909	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7526846	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7531581	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7544969	0.92[EUR][1000 genomes]
rs8179369	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs972405	0.83[EUR][1000 genomes];0.89[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	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521647	chr1:197464448-197529218	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197478000-197541200	Weak transcription	Aorta	Aorta
2	chr1:197480000-197535800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:197480200-197541200	Weak transcription	Esophagus	oesophagus
4	chr1:197480200-197541200	Weak transcription	Fetal Thymus	thymus
5	chr1:197480400-197541200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:197481400-197529600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:197487800-197536000	Weak transcription	Fetal Lung	lung
8	chr1:197491600-197520800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:197496200-197532400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:197500600-197529400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:197502200-197531800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:197502400-197534600	Weak transcription	Fetal Intestine Large	intestine
13	chr1:197503200-197524000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:197503200-197526400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:197503200-197541200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:197503600-197535800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:197504200-197529000	Weak transcription	Fetal Intestine Small	intestine
18	chr1:197505400-197532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:197505600-197541000	Weak transcription	Pancreas	Pancrea
20	chr1:197506200-197526000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:197506400-197535800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:197506600-197537600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:197506800-197535600	Weak transcription	Primary B cells from cord blood	blood
24	chr1:197506800-197564600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:197507200-197519000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:197508400-197522400	Weak transcription	Dnd41	blood
27	chr1:197508400-197602400	Weak transcription	Left Ventricle	heart
28	chr1:197508600-197528400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:197508600-197532200	Weak transcription	Primary T cells from cord blood	blood
30	chr1:197509000-197529600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:197509200-197529200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:197509200-197529600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:197509200-197535600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:197509200-197535600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:197509400-197536000	Weak transcription	Liver	Liver
36	chr1:197511400-197535800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:197511800-197535600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:197512000-197529400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:197512800-197531400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:197513800-197535800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:197514200-197535800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:197514400-197518000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:197514400-197535800	Weak transcription	Primary monocytes fromperipheralblood	blood

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