Variant report

Variant	rs2285175
Chromosome Location	chr1:172422209-172422210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172411084..172422561-chr1:172496524..172504623,44	MCF-7	breast:
2	chr1:172416845..172420491-chr1:172421660..172424212,3	MCF-7	breast:
3	chr1:172412087..172424934-chr1:172497120..172505334,59	MCF-7	breast:

Variant related genes	Relation type
ENSG00000094975	Chromatin interaction
ENSG00000180999	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1063412	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10752946	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs10752957	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs10798005	0.95[CHB][hapmap]
rs11484605	0.83[ASN][1000 genomes]
rs13932	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1894634	0.82[EUR][1000 genomes]
rs2097500	0.82[EUR][1000 genomes]
rs2157450	0.94[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs2213740	0.95[CEU][hapmap];0.82[CHB][hapmap];0.87[EUR][1000 genomes]
rs2269613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269615	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2269616	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2285170	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2285171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2285172	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285176	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2301455	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2422141	0.83[ASN][1000 genomes]
rs2901656	0.81[CHB][hapmap]
rs3213563	0.95[ASN][1000 genomes]
rs3937046	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4916186	0.82[ASN][1000 genomes]
rs4916258	0.95[ASN][1000 genomes]
rs60302909	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60821093	0.80[EUR][1000 genomes]
rs6424923	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6658843	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs6669286	0.86[EUR][1000 genomes]
rs6673869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680035	0.94[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs6689377	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690191	0.86[EUR][1000 genomes]
rs6692458	0.85[CEU][hapmap]
rs6695139	0.83[CEU][hapmap]
rs6699095	0.82[CHB][hapmap]
rs6702667	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs7411767	0.83[ASN][1000 genomes]
rs7516301	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs7550016	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[EUR][1000 genomes]
rs9286858	0.95[CEU][hapmap];0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs929098	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425308	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs9425311	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs9425313	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9425316	0.82[ASN][1000 genomes]
rs9425329	0.94[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs9425334	0.94[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs9425598	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs9425600	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs9425601	0.81[ASN][1000 genomes]
rs9425602	0.80[ASN][1000 genomes]
rs9425604	0.80[ASN][1000 genomes]
rs9425606	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs9425619	0.86[EUR][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	nsv947449	chr1:172419586-172424910	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172417200-172423200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr1:172419600-172423200	Enhancers	K562	blood
3	chr1:172419600-172426000	Enhancers	Fetal Intestine Large	intestine
4	chr1:172419800-172424400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:172420200-172426000	Enhancers	Fetal Intestine Small	intestine
6	chr1:172420400-172422400	Enhancers	Hela-S3	cervix
7	chr1:172420400-172422800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:172420400-172425400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:172420600-172422800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:172420800-172422800	Enhancers	HepG2	liver
11	chr1:172421000-172422600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:172421200-172423000	Enhancers	A549	lung
13	chr1:172421200-172423200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:172421200-172423600	Enhancers	Fetal Heart	heart
15	chr1:172421400-172422400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:172421400-172422400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:172421400-172423200	Enhancers	Stomach Mucosa	stomach
18	chr1:172421600-172422400	Enhancers	Placenta	Placenta
19	chr1:172421600-172422400	Enhancers	Gastric	stomach
20	chr1:172421600-172422400	Enhancers	Left Ventricle	heart
21	chr1:172421600-172422400	Enhancers	Pancreas	Pancrea
22	chr1:172421600-172422600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:172421600-172422600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr1:172421600-172422600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:172421800-172422400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:172421800-172422400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:172421800-172422400	Enhancers	Psoas Muscle	Psoas
28	chr1:172421800-172422800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:172421800-172423200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:172421800-172424000	Active TSS	Fetal Muscle Trunk	muscle
31	chr1:172422000-172422400	Enhancers	Right Ventricle	heart
32	chr1:172422000-172422400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr1:172422000-172422400	Flanking Active TSS	HSMMtube	muscle
34	chr1:172422000-172422600	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr1:172422000-172423000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:172422200-172422400	Enhancers	Brain Hippocampus Middle	brain
37	chr1:172422200-172422400	Enhancers	HSMM	muscle
38	chr1:172422200-172422600	Enhancers	Brain Substantia Nigra	brain
39	chr1:172422200-172423000	Active TSS	Right Atrium	heart

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