Variant report

Variant	rs57638633
Chromosome Location	chr20:25641439-25641440
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25638905..25641793-chr20:25662491..25665078,2	MCF-7	breast:
2	chr20:25639583..25642307-chr20:25730598..25732311,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226465	Chromatin interaction

Extended variants
information (count: 217 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:216)

rs_ID	r²[population]
rs10485776	0.89[EUR][1000 genomes]
rs1109100	0.89[EUR][1000 genomes]
rs1122769	0.93[EUR][1000 genomes]
rs12106173	0.95[EUR][1000 genomes]
rs1569617	0.91[ASN][1000 genomes]
rs16987786	0.89[EUR][1000 genomes]
rs16987789	0.87[EUR][1000 genomes]
rs16987799	0.89[EUR][1000 genomes]
rs16987820	0.89[EUR][1000 genomes]
rs16987934	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16988014	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1891771	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1936188	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1936190	0.82[EUR][1000 genomes]
rs2103661	0.85[ASN][1000 genomes]
rs2179458	0.89[EUR][1000 genomes]
rs2388026	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242130	0.88[ASN][1000 genomes]
rs242133	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2424719	0.87[EUR][1000 genomes]
rs35516971	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3764695	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813916	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs400070	0.89[EUR][1000 genomes]
rs402120	0.87[EUR][1000 genomes]
rs409322	0.83[EUR][1000 genomes]
rs409401	0.87[EUR][1000 genomes]
rs4098823	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4098824	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4113658	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4113659	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4113661	0.86[ASN][1000 genomes]
rs4113662	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41308623	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs426563	0.87[EUR][1000 genomes]
rs428278	0.87[EUR][1000 genomes]
rs4318454	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4343537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4368405	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs440612	0.89[EUR][1000 genomes]
rs447808	0.87[EUR][1000 genomes]
rs4574179	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813570	0.89[EUR][1000 genomes]
rs4813579	0.86[ASN][1000 genomes]
rs4815445	0.86[ASN][1000 genomes]
rs4815450	0.86[ASN][1000 genomes]
rs58169034	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59324912	0.89[EUR][1000 genomes]
rs59399848	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59546510	0.89[EUR][1000 genomes]
rs6037128	0.89[EUR][1000 genomes]
rs6037131	0.89[EUR][1000 genomes]
rs6037133	0.89[EUR][1000 genomes]
rs6037159	0.94[ASN][1000 genomes]
rs6037161	0.94[ASN][1000 genomes]
rs6037164	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6037166	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6037167	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6037168	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6037179	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037180	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037192	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6037193	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037195	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6037196	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6037198	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037199	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037204	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6037205	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6037206	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6037208	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037212	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037217	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037220	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037222	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6037223	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60394570	0.80[ASN][1000 genomes]
rs60463280	0.97[ASN][1000 genomes]
rs6050651	0.89[EUR][1000 genomes]
rs6050658	0.89[EUR][1000 genomes]
rs6050663	0.89[EUR][1000 genomes]
rs6050692	0.82[ASN][1000 genomes]
rs6050707	0.94[ASN][1000 genomes]
rs6050709	0.94[ASN][1000 genomes]
rs6050710	0.94[ASN][1000 genomes]
rs6050712	0.94[ASN][1000 genomes]
rs6050714	0.94[ASN][1000 genomes]
rs6050717	0.94[ASN][1000 genomes]
rs6050720	0.94[ASN][1000 genomes]
rs6050723	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050724	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050725	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050726	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050727	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050729	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050730	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050732	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6050733	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6050737	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050743	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050745	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050749	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050751	0.80[ASN][1000 genomes]
rs6050753	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050754	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050755	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050756	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050757	0.84[ASN][1000 genomes]
rs6050758	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050760	0.82[ASN][1000 genomes]
rs6050763	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050767	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050768	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050770	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050775	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050779	0.84[ASN][1000 genomes]
rs6050787	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050788	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050789	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050793	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050795	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050796	0.86[ASN][1000 genomes]
rs6050799	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050801	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050802	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050804	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050805	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050807	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050809	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050813	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6050815	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6050816	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6050825	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6050832	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050833	0.86[ASN][1000 genomes]
rs6050834	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050835	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050838	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050840	0.86[ASN][1000 genomes]
rs6050841	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050846	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050847	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050848	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050851	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050853	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050854	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050858	0.80[ASN][1000 genomes]
rs6076372	0.85[ASN][1000 genomes]
rs6083886	0.82[ASN][1000 genomes]
rs6083896	0.85[ASN][1000 genomes]
rs6083897	0.85[ASN][1000 genomes]
rs6083899	0.85[ASN][1000 genomes]
rs60897995	0.86[EUR][1000 genomes]
rs61052177	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6115224	0.85[ASN][1000 genomes]
rs6138612	0.85[ASN][1000 genomes]
rs6138613	0.83[ASN][1000 genomes]
rs61494938	0.86[EUR][1000 genomes]
rs66591653	0.89[EUR][1000 genomes]
rs66813885	0.82[EUR][1000 genomes]
rs66983770	0.82[EUR][1000 genomes]
rs67359112	0.89[EUR][1000 genomes]
rs67455519	0.89[EUR][1000 genomes]
rs67482703	0.89[EUR][1000 genomes]
rs67921634	0.89[EUR][1000 genomes]
rs68165049	0.85[EUR][1000 genomes]
rs7261537	0.91[ASN][1000 genomes]
rs7266130	0.89[EUR][1000 genomes]
rs73339360	0.85[ASN][1000 genomes]
rs73339379	0.91[ASN][1000 genomes]
rs73339383	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73339387	0.91[ASN][1000 genomes]
rs73341305	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73341314	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73341328	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73341361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73341363	0.97[ASN][1000 genomes]
rs73341365	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73341397	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73343217	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73343255	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73343275	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73343292	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73345232	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73345249	0.86[EUR][1000 genomes]
rs73345259	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73345264	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73345278	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73345280	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73345286	0.82[EUR][1000 genomes]
rs7346687	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73597810	0.89[EUR][1000 genomes]
rs73597812	0.89[EUR][1000 genomes]
rs73597813	0.89[EUR][1000 genomes]
rs73597829	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs742435	0.89[EUR][1000 genomes]
rs742436	0.89[EUR][1000 genomes]
rs8115742	0.89[EUR][1000 genomes]
rs8116267	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8116474	0.98[EUR][1000 genomes]
rs8117181	0.89[EUR][1000 genomes]
rs8120065	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8120594	0.94[ASN][1000 genomes]
rs8121013	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8121648	0.95[EUR][1000 genomes]
rs8122516	0.98[EUR][1000 genomes]
rs8122589	0.93[EUR][1000 genomes]
rs8125002	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8126236	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs926486	0.84[ASN][1000 genomes]
rs926487	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9753575	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs981440	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs981441	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9941769	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912834	chr20:25615272-25756336	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25605600-25654600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr20:25609200-25653400	Weak transcription	Brain Substantia Nigra	brain
3	chr20:25611400-25653200	Weak transcription	Fetal Intestine Small	intestine
4	chr20:25616000-25653600	Weak transcription	Adipose Nuclei	Adipose
5	chr20:25617000-25650400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr20:25617600-25653400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr20:25618400-25653600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr20:25618400-25653600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr20:25623200-25653600	Weak transcription	Pancreas	Pancrea
10	chr20:25625000-25655200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr20:25625200-25641600	Weak transcription	Dnd41	blood
12	chr20:25626400-25653600	Weak transcription	Fetal Muscle Leg	muscle
13	chr20:25626800-25654000	Weak transcription	Gastric	stomach
14	chr20:25628200-25653600	Weak transcription	Esophagus	oesophagus
15	chr20:25628800-25653400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr20:25628800-25653400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr20:25628800-25653400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr20:25629000-25649000	Weak transcription	Thymus	Thymus
19	chr20:25629000-25649200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr20:25629000-25652200	Weak transcription	Liver	Liver
21	chr20:25629000-25653400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr20:25629000-25653600	Weak transcription	Brain Hippocampus Middle	brain
23	chr20:25629000-25653600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr20:25629000-25653800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr20:25629200-25650800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr20:25629400-25650400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr20:25629400-25650400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr20:25632600-25653600	Weak transcription	Brain Anterior Caudate	brain
29	chr20:25639200-25642400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr20:25640000-25643200	Weak transcription	A549	lung
31	chr20:25640400-25641600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr20:25641200-25653800	Weak transcription	Right Ventricle	heart

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