Variant report

Variant	rs7622591
Chromosome Location	chr3:140307388-140307389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs72979236	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981911	0.86[AFR][1000 genomes]
rs72981916	0.88[AFR][1000 genomes]
rs72981938	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981956	0.88[AFR][1000 genomes]
rs7622496	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757891	chr3:139925764-140524730	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759181	chr3:139925764-140524730	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv527831	chr3:139932966-140533823	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv34489	chr3:140009020-140469302	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2757012	chr3:140009220-140460228	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv870185	chr3:140265153-140395673	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv877546	chr3:140299603-140468370	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140305800-140307600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:140305800-140307600	Weak transcription	NH-A	brain
3	chr3:140306000-140307400	Weak transcription	HSMMtube	muscle
4	chr3:140306000-140318200	Weak transcription	HSMM	muscle
5	chr3:140306600-140307400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:140306800-140307400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:140306800-140308000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:140306800-140308400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:140307000-140307400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:140307000-140307400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:140307000-140307600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:140307000-140307800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:140307000-140307800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:140307000-140308000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:140307000-140308400	Enhancers	HUES48 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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