Variant report

Variant	rs1770513
Chromosome Location	chr1:76221127-76221128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10873724	0.81[ASN][1000 genomes]
rs10873727	0.83[ASN][1000 genomes]
rs10873728	0.83[ASN][1000 genomes]
rs10873738	0.83[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs10873739	0.83[ASN][1000 genomes]
rs1093006	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1093009	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11161465	0.90[JPT][hapmap]
rs11161700	0.83[ASN][1000 genomes]
rs11161704	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1144328	0.87[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1144331	0.88[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1144333	0.87[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1144337	0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs1144338	0.83[ASN][1000 genomes]
rs1144339	0.87[ASN][1000 genomes]
rs1144341	0.87[ASN][1000 genomes]
rs1144342	0.88[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1146572	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1146577	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1146587	0.87[ASN][1000 genomes]
rs1146592	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1146593	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1146602	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1146613	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1146616	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1146625	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1146645	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1146647	0.87[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1146648	0.81[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs1146649	0.88[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1146651	0.88[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1146652	0.88[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1146656	0.83[ASN][1000 genomes]
rs11579355	0.82[ASN][1000 genomes]
rs12022011	0.95[JPT][hapmap]
rs12032051	0.86[JPT][hapmap]
rs12045299	0.80[JPT][hapmap]
rs12076093	0.81[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs12078151	0.83[ASN][1000 genomes]
rs12081710	0.83[ASN][1000 genomes]
rs12090712	0.83[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs12385715	0.83[ASN][1000 genomes]
rs12401729	0.87[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12403889	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12405178	0.83[ASN][1000 genomes]
rs1250875	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1250876	0.87[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs1250877	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1250878	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1250880	0.87[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs1250882	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1251065	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1251077	0.83[ASN][1000 genomes]
rs1251078	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1251079	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1251270	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1251272	0.83[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs1251273	0.87[ASN][1000 genomes]
rs1251274	0.87[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1251275	0.83[ASN][1000 genomes]
rs12703	0.88[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12732722	0.80[JPT][hapmap]
rs12744608	0.86[JPT][hapmap]
rs1303870	0.81[CHB][hapmap]
rs1323734	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1498313	0.85[JPT][hapmap]
rs1603734	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs1621198	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1631498	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1694421	0.83[ASN][1000 genomes]
rs1694428	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs17097429	1.00[CEU][hapmap]
rs17097681	0.88[CHB][hapmap]
rs17097695	0.82[CHB][hapmap]
rs1767457	0.89[ASN][1000 genomes]
rs1767459	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1770512	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1812589	0.83[ASN][1000 genomes]
rs1908089	0.88[CHB][hapmap]
rs1960528	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2012536	0.88[ASN][1000 genomes]
rs2788655	0.88[ASN][1000 genomes]
rs34045364	0.82[ASN][1000 genomes]
rs34177389	0.82[ASN][1000 genomes]
rs35591768	0.82[ASN][1000 genomes]
rs3765682	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs4949884	0.83[ASN][1000 genomes]
rs5019550	0.83[ASN][1000 genomes]
rs56350137	0.83[ASN][1000 genomes]
rs5745327	0.88[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs5745343	0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs5745354	0.81[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs5745392	0.88[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs5745465	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs5745523	0.83[CHB][hapmap]
rs5745542	0.88[CHB][hapmap]
rs5745546	0.83[CHB][hapmap]
rs61676733	0.83[ASN][1000 genomes]
rs6687882	0.81[CHB][hapmap]
rs696677	0.90[ASN][1000 genomes]
rs696679	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs699677	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs699683	0.94[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs699824	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs699825	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7514912	0.83[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7516477	0.87[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs7548391	0.83[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7548991	0.90[JPT][hapmap]
rs814851	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs814855	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs814873	0.86[ASN][1000 genomes]
rs814874	0.86[ASN][1000 genomes]
rs815303	0.86[ASN][1000 genomes]
rs815309	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9660848	0.90[JPT][hapmap]

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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76192000-76227800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:76192200-76222000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:76196000-76222000	Strong transcription	Liver	Liver
4	chr1:76202000-76225000	Weak transcription	Stomach Mucosa	stomach
5	chr1:76203400-76230800	Weak transcription	NHDF-Ad	bronchial
6	chr1:76204800-76229000	Weak transcription	Psoas Muscle	Psoas
7	chr1:76208600-76223800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:76208800-76231400	Weak transcription	A549	lung
9	chr1:76208800-76231400	Weak transcription	NHEK	skin
10	chr1:76208800-76231600	Weak transcription	Hela-S3	cervix
11	chr1:76209000-76230800	Weak transcription	HUVEC	blood vessel
12	chr1:76209000-76230800	Weak transcription	NHLF	lung
13	chr1:76210200-76223000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:76210200-76231800	Weak transcription	HSMMtube	muscle
15	chr1:76211600-76230800	Weak transcription	HMEC	breast
16	chr1:76213200-76221600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr1:76214200-76221800	Strong transcription	Adipose Nuclei	Adipose
18	chr1:76214400-76221600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:76215000-76221600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr1:76215000-76221800	Strong transcription	Primary T cells from cord blood	blood
21	chr1:76215400-76221600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:76215600-76221800	Strong transcription	Dnd41	blood
23	chr1:76215800-76221200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:76215800-76221600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:76215800-76221800	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:76215800-76222000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:76215800-76222000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:76216000-76221400	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr1:76216000-76221400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:76216000-76221600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:76216000-76221600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr1:76216000-76221800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr1:76216000-76221800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:76216000-76221800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr1:76216000-76222000	Strong transcription	Left Ventricle	heart
36	chr1:76216000-76222200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:76216000-76222400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:76216200-76222000	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:76217000-76222000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:76217600-76231400	Weak transcription	Osteobl	bone
41	chr1:76217800-76222000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:76218000-76222600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:76218200-76221200	Weak transcription	Fetal Brain Male	brain
44	chr1:76219200-76221800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr1:76219400-76222000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:76219400-76222000	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr1:76219600-76221600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr1:76219600-76222000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
49	chr1:76219600-76222000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr1:76219600-76222000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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