Variant report

Variant	rs7630239
Chromosome Location	chr3:140479023-140479024
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2044077	0.82[EUR][1000 genomes]
rs4996694	0.89[EUR][1000 genomes]
rs6765658	0.80[EUR][1000 genomes]
rs6791079	0.82[EUR][1000 genomes]
rs7624520	0.89[EUR][1000 genomes]
rs7630311	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7635227	0.80[EUR][1000 genomes]
rs7643274	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9826623	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9836729	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9864109	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9864302	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1008838	chr3:140355975-140588726	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv877547	chr3:140366948-140575287	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv829743	chr3:140384246-140559778	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv591865	chr3:140396022-140728850	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1005522	chr3:140454632-140685915	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv536732	chr3:140454632-140685915	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140473800-140479200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr3:140474000-140479200	Weak transcription	Pancreas	Pancrea
3	chr3:140477800-140479400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:140477800-140480200	Enhancers	Fetal Thymus	thymus
5	chr3:140477800-140480400	Enhancers	Fetal Muscle Leg	muscle
6	chr3:140478000-140479200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:140478200-140479600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr3:140478200-140480200	Enhancers	Thymus	Thymus
9	chr3:140478400-140480000	Enhancers	Primary T cells from cord blood	blood
10	chr3:140479000-140479600	Enhancers	Fetal Muscle Trunk	muscle
11	chr3:140479000-140480000	Enhancers	HSMMtube	muscle

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

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