Variant report

Variant	rs4675530
Chromosome Location	chr2:206346565-206346566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1877341	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1877342	0.84[ASN][1000 genomes]
rs4675525	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4675526	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72948051	0.96[ASN][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	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv584244	chr2:206247450-206378392	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv10162	chr2:206272092-206525287	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv19770	chr2:206283097-206671319	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2751840	chr2:206314671-206512921	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1007821	chr2:206333129-206465451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv584245	chr2:206346410-206464465	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206340800-206347000	Weak transcription	Fetal Stomach	stomach
2	chr2:206341000-206346600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:206341400-206347000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:206342600-206348600	Weak transcription	Fetal Heart	heart
5	chr2:206342800-206347400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:206342800-206347400	Weak transcription	HSMMtube	muscle
7	chr2:206342800-206347800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:206343000-206347000	Weak transcription	HSMM	muscle
9	chr2:206343000-206347600	Weak transcription	Ovary	ovary
10	chr2:206343600-206347600	Weak transcription	Fetal Lung	lung
11	chr2:206345400-206348000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:206345600-206350400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:206345800-206347200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:206346000-206346800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:206346000-206349800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:206346000-206349800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:206346000-206350000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:206346200-206347000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:206346200-206347400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:206346200-206350000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:206346200-206365200	Weak transcription	Aorta	Aorta
22	chr2:206346400-206347000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:206346400-206348000	Enhancers	H9 Cell Line	embryonic stem cell

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