Variant report

Variant	rs1146592
Chromosome Location	chr1:76234064-76234065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76225609..76234140-chr1:76249320..76256385,15	K562	blood:
2	chr1:76225579..76234839-chr1:76250485..76256385,12	K562	blood:
3	chr1:76231785..76234506-chr1:76257045..76259651,2	K562	blood:

Variant related genes	Relation type
ENSG00000207241	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000206620	Chromatin interaction
ENSG00000201487	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10873724	0.82[ASN][1000 genomes]
rs10873727	0.84[ASN][1000 genomes]
rs10873728	0.84[ASN][1000 genomes]
rs10873738	0.84[ASN][1000 genomes]
rs10873739	0.84[ASN][1000 genomes]
rs1093006	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1093009	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1093011	0.82[ASN][1000 genomes]
rs11161700	0.84[ASN][1000 genomes]
rs11161704	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1144328	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1144331	0.88[ASN][1000 genomes]
rs1144333	0.88[ASN][1000 genomes]
rs1144337	0.88[ASN][1000 genomes]
rs1144338	0.84[ASN][1000 genomes]
rs1144339	0.88[ASN][1000 genomes]
rs1144341	0.88[ASN][1000 genomes]
rs1144342	0.88[ASN][1000 genomes]
rs1146572	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1146577	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1146587	0.86[ASN][1000 genomes]
rs1146593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1146602	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1146613	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1146616	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1146625	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1146645	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1146647	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1146648	0.84[ASN][1000 genomes]
rs1146649	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1146651	0.88[ASN][1000 genomes]
rs1146652	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1146656	0.84[ASN][1000 genomes]
rs11579355	0.83[ASN][1000 genomes]
rs12076093	0.84[ASN][1000 genomes]
rs12078151	0.84[ASN][1000 genomes]
rs12081710	0.84[ASN][1000 genomes]
rs12090712	0.84[ASN][1000 genomes]
rs12385715	0.84[ASN][1000 genomes]
rs12401729	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12403889	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12405178	0.84[ASN][1000 genomes]
rs1250875	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1250876	0.84[ASN][1000 genomes]
rs1250877	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1250878	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1250880	0.85[ASN][1000 genomes]
rs1250882	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1251065	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1251077	0.86[ASN][1000 genomes]
rs1251078	0.87[ASN][1000 genomes]
rs1251079	0.87[ASN][1000 genomes]
rs1251270	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1251272	0.84[ASN][1000 genomes]
rs1251273	0.88[ASN][1000 genomes]
rs1251274	0.88[ASN][1000 genomes]
rs1251275	0.84[ASN][1000 genomes]
rs12703	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1323734	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1621198	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1631498	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17097681	0.84[EUR][1000 genomes]
rs1767457	0.85[ASN][1000 genomes]
rs1767459	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1770512	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1770513	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1812589	0.84[ASN][1000 genomes]
rs1960528	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2012536	0.88[ASN][1000 genomes]
rs2788655	0.84[ASN][1000 genomes]
rs34045364	0.83[ASN][1000 genomes]
rs34177389	0.83[ASN][1000 genomes]
rs35591768	0.83[ASN][1000 genomes]
rs36054685	0.80[ASN][1000 genomes]
rs4949884	0.84[ASN][1000 genomes]
rs5019550	0.84[ASN][1000 genomes]
rs56350137	0.84[ASN][1000 genomes]
rs5745327	0.88[ASN][1000 genomes]
rs5745343	0.88[ASN][1000 genomes]
rs5745354	0.88[ASN][1000 genomes]
rs5745392	0.88[ASN][1000 genomes]
rs61676733	0.84[ASN][1000 genomes]
rs696677	0.92[ASN][1000 genomes]
rs696679	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs699677	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs699683	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs699824	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs699825	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7514912	0.83[ASN][1000 genomes]
rs7516477	0.85[ASN][1000 genomes]
rs7548391	0.83[ASN][1000 genomes]
rs814851	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs814855	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs814873	0.89[ASN][1000 genomes]
rs814874	0.89[ASN][1000 genomes]
rs814897	0.82[ASN][1000 genomes]
rs815303	0.88[ASN][1000 genomes]
rs815309	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv2763563	chr1:76229839-76245374	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76221200-76238400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:76221600-76234200	Weak transcription	Thymus	Thymus
3	chr1:76222000-76236600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:76222000-76237000	Weak transcription	Brain Angular Gyrus	brain
5	chr1:76223800-76236600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:76227400-76249800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:76227800-76239600	Weak transcription	GM12878-XiMat	blood
8	chr1:76230000-76234600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:76230400-76234200	Weak transcription	Primary B cells from cord blood	blood
10	chr1:76231600-76234600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:76232800-76236600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:76232800-76243200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:76233000-76234400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:76233200-76234200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:76233200-76234200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:76233800-76234200	Enhancers	HUVEC	blood vessel
17	chr1:76233800-76234600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:76233800-76234600	Enhancers	HMEC	breast
19	chr1:76233800-76234600	Enhancers	NH-A	brain
20	chr1:76233800-76234600	Enhancers	NHEK	skin
21	chr1:76234000-76236600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:76234000-76241000	Weak transcription	Muscle Satellite Cultured Cells	--

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