Variant report

Variant	rs4587571
Chromosome Location	chr1:221206957-221206958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221206891..221209898-chr1:221213068..221215550,3	K562	blood:
2	chr1:221200117..221203706-chr1:221205688..221208505,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17009202	0.92[EUR][1000 genomes]
rs17009291	0.92[EUR][1000 genomes]
rs57878357	0.92[EUR][1000 genomes]
rs58324444	0.92[EUR][1000 genomes]
rs58487387	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60162378	1.00[EUR][1000 genomes]
rs60523812	0.92[EUR][1000 genomes]
rs60688199	0.92[EUR][1000 genomes]
rs60884344	0.92[EUR][1000 genomes]
rs6693203	0.92[EUR][1000 genomes]
rs73097451	0.92[EUR][1000 genomes]
rs73097461	0.92[EUR][1000 genomes]
rs73097472	0.92[EUR][1000 genomes]
rs73097476	0.92[EUR][1000 genomes]
rs73097478	0.92[EUR][1000 genomes]
rs73097479	0.92[EUR][1000 genomes]
rs7515981	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544243	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221199800-221209200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr1:221203400-221209000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:221204400-221207600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:221204600-221210000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:221205000-221207400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:221205000-221207600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:221205000-221208400	Weak transcription	Left Ventricle	heart
8	chr1:221205000-221208400	Enhancers	Hela-S3	cervix
9	chr1:221205000-221209800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:221205800-221207200	Enhancers	NHDF-Ad	bronchial
11	chr1:221205800-221207400	Enhancers	Rectal Smooth Muscle	rectum
12	chr1:221205800-221209000	Enhancers	HUVEC	blood vessel
13	chr1:221205800-221210000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:221206200-221207000	Enhancers	Adipose Nuclei	Adipose
15	chr1:221206200-221207200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr1:221206200-221207200	Enhancers	HSMM	muscle
17	chr1:221206200-221207400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:221206200-221207400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:221206200-221207400	Enhancers	HSMMtube	muscle
20	chr1:221206200-221207400	Enhancers	NHLF	lung
21	chr1:221206200-221209600	Enhancers	Colon Smooth Muscle	Colon
22	chr1:221206200-221210000	Enhancers	K562	blood
23	chr1:221206400-221207000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:221206400-221207200	Weak transcription	Psoas Muscle	Psoas
25	chr1:221206400-221208400	Weak transcription	HMEC	breast
26	chr1:221206600-221207200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:221206600-221209600	Enhancers	Primary hematopoietic stem cells	blood
28	chr1:221206800-221207200	Weak transcription	Fetal Stomach	stomach
29	chr1:221206800-221207800	Enhancers	Fetal Muscle Leg	muscle
30	chr1:221206800-221208800	Weak transcription	Osteobl	bone

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