Variant report

Variant	rs72974964
Chromosome Location	chr4:86638593-86638594
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	chr4:86636846..86639460-chr4:86646994..86650013,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs34713205	0.90[AFR][1000 genomes]
rs58103527	0.95[AFR][1000 genomes]
rs59664475	0.89[AFR][1000 genomes]
rs72974971	1.00[AFR][1000 genomes]
rs72974976	1.00[AFR][1000 genomes]
rs72974983	1.00[AFR][1000 genomes]
rs72974985	1.00[AFR][1000 genomes]
rs72974987	1.00[AFR][1000 genomes]
rs72974994	1.00[AFR][1000 genomes]
rs72975001	1.00[AFR][1000 genomes]
rs72976704	1.00[AFR][1000 genomes]
rs72976705	1.00[AFR][1000 genomes]
rs72976709	0.95[AFR][1000 genomes]
rs72976711	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv829999	chr4:86500257-86666019	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86632000-86647000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86633600-86644800	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:86636200-86639800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:86636600-86638800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:86636600-86639200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:86636600-86643600	Enhancers	NHDF-Ad	bronchial
7	chr4:86637200-86639000	Enhancers	Primary B cells from cord blood	blood
8	chr4:86637400-86638800	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:86637600-86638800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr4:86637800-86641400	Weak transcription	HSMM	muscle
11	chr4:86637800-86641600	Weak transcription	A549	lung
12	chr4:86638000-86638600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:86638000-86638600	Enhancers	HSMMtube	muscle
14	chr4:86638000-86639000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr4:86638000-86639600	Enhancers	Fetal Lung	lung
16	chr4:86638000-86646600	Weak transcription	Small Intestine	intestine
17	chr4:86638200-86639200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:86638200-86646600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:86638400-86638800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:86638400-86638800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr4:86638400-86639400	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links