Variant report

Variant	rs593688
Chromosome Location	chr1:172138932-172138933
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172137145..172139186-chr1:173835377..173837374,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185278	Chromatin interaction
ENSG00000234741	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10489297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10910941	1.00[CHB][hapmap]
rs10911270	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11484597	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584955	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589142	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123837	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126381	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129806	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135520	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843855	1.00[CHB][hapmap]
rs16843860	1.00[CHB][hapmap]
rs17277008	1.00[CHB][hapmap]
rs17277127	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17277372	0.88[GIH][hapmap];0.90[TSI][hapmap]
rs17346438	1.00[CHB][hapmap]
rs17346452	1.00[CHB][hapmap]
rs17346473	1.00[CHB][hapmap]
rs17350544	1.00[CHB][hapmap]
rs17350579	1.00[CHB][hapmap]
rs17350586	1.00[CHB][hapmap]
rs17361789	1.00[CHB][hapmap]
rs17361886	1.00[GIH][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17361920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17361955	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2209096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2209098	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224782	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421990	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421991	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3915514	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4394690	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4540689	1.00[CHB][hapmap]
rs479960	0.80[MEX][hapmap]
rs55935473	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56138708	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583578	0.80[MEX][hapmap]
rs61807788	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694089	1.00[CHB][hapmap]
rs7535241	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979021	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172123400-172149200	Weak transcription	Brain Anterior Caudate	brain
2	chr1:172128400-172149800	Weak transcription	Aorta	Aorta
3	chr1:172132800-172150000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:172134000-172139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:172134800-172139400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:172136800-172140400	Enhancers	Fetal Heart	heart
7	chr1:172137000-172139200	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:172137000-172139600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:172137000-172139800	Enhancers	Fetal Lung	lung
10	chr1:172137400-172140200	Enhancers	Fetal Intestine Small	intestine
11	chr1:172138000-172141200	Weak transcription	Right Ventricle	heart
12	chr1:172138000-172141400	Weak transcription	HSMM	muscle
13	chr1:172138000-172141400	Weak transcription	NHLF	lung
14	chr1:172138000-172143600	Weak transcription	Fetal Brain Male	brain
15	chr1:172138200-172147800	Weak transcription	Brain Angular Gyrus	brain
16	chr1:172138400-172141800	Weak transcription	Osteobl	bone
17	chr1:172138400-172145000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:172138400-172149800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:172138600-172139400	Weak transcription	Fetal Intestine Large	intestine
20	chr1:172138600-172139400	Weak transcription	Fetal Stomach	stomach
21	chr1:172138600-172141400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:172138600-172141800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:172138600-172143600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:172138600-172147600	Weak transcription	Small Intestine	intestine
25	chr1:172138600-172147800	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:172138600-172147800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:172138800-172139200	Weak transcription	Brain Substantia Nigra	brain

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