Variant report

Variant	rs4633271
Chromosome Location	chr1:192608619-192608620
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192607291..192610228-chr1:192623335..192626008,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10489878	1.00[AFR][1000 genomes]
rs2146608	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4517332	0.92[ASN][1000 genomes]
rs4657831	0.92[ASN][1000 genomes]
rs4657832	0.92[ASN][1000 genomes]
rs4658062	0.92[ASN][1000 genomes]
rs4658063	0.92[ASN][1000 genomes]
rs4658065	0.92[ASN][1000 genomes]
rs4658066	0.92[ASN][1000 genomes]
rs4658067	0.92[ASN][1000 genomes]
rs61741287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6428127	0.92[ASN][1000 genomes]
rs6428129	0.92[ASN][1000 genomes]
rs6428130	0.92[ASN][1000 genomes]
rs6656719	0.92[ASN][1000 genomes]
rs6659815	0.92[ASN][1000 genomes]
rs6659935	0.92[ASN][1000 genomes]
rs6663587	0.92[ASN][1000 genomes]
rs6666658	0.92[ASN][1000 genomes]
rs6688640	0.92[ASN][1000 genomes]
rs6690375	0.92[ASN][1000 genomes]
rs6691511	0.92[ASN][1000 genomes]
rs6691609	0.92[ASN][1000 genomes]
rs6700053	0.92[ASN][1000 genomes]
rs6701059	0.92[ASN][1000 genomes]
rs6701375	0.92[ASN][1000 genomes]
rs6703926	0.92[ASN][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv467005	chr1:192549912-192625360	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv548659	chr1:192549912-192625360	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192600200-192620400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:192603400-192608800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:192603400-192608800	Weak transcription	HSMMtube	muscle
4	chr1:192604000-192609000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:192605400-192609200	Weak transcription	Fetal Heart	heart
6	chr1:192607400-192609000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:192607600-192609000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:192607600-192609400	Enhancers	Fetal Intestine Small	intestine
9	chr1:192608000-192608800	Weak transcription	Osteobl	bone
10	chr1:192608000-192610800	Enhancers	Fetal Lung	lung
11	chr1:192608200-192609000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr1:192608200-192609000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:192608200-192609000	Enhancers	Fetal Muscle Leg	muscle
14	chr1:192608200-192609600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:192608200-192609600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:192608200-192609600	Enhancers	Ovary	ovary
17	chr1:192608200-192609800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:192608200-192609800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:192608200-192610000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:192608200-192611000	Enhancers	Fetal Intestine Large	intestine
21	chr1:192608400-192609000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:192608400-192609400	Bivalent Enhancer	Primary B cells from cord blood	blood
23	chr1:192608400-192609400	Enhancers	Primary B cells from peripheral blood	blood
24	chr1:192608400-192609800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:192608400-192610000	Enhancers	GM12878-XiMat	blood
26	chr1:192608600-192609800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:192608600-192610200	Enhancers	A549	lung

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