Variant report

Variant	rs4670630
Chromosome Location	chr2:37059658-37059659
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1008838	0.86[CHB][hapmap]
rs10182741	1.00[CHB][hapmap]
rs10189328	1.00[CHB][hapmap]
rs10201963	1.00[CHB][hapmap]
rs10490659	1.00[CHB][hapmap]
rs10495868	1.00[CHB][hapmap]
rs10865120	0.86[CHB][hapmap]
rs11124552	1.00[CHB][hapmap]
rs11674211	1.00[CHB][hapmap]
rs11675109	1.00[CHB][hapmap]
rs11676225	1.00[CHB][hapmap]
rs11678303	1.00[CHB][hapmap]
rs11682966	1.00[CHB][hapmap]
rs11904023	1.00[CHB][hapmap]
rs12479195	1.00[CHB][hapmap]
rs12624290	1.00[CHB][hapmap]
rs13020894	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13401327	1.00[CHB][hapmap]
rs13413438	1.00[CHB][hapmap]
rs17020005	1.00[CHB][hapmap]
rs17020069	1.00[CHB][hapmap]
rs17020072	1.00[CHB][hapmap]
rs17020074	1.00[CHB][hapmap]
rs17020084	1.00[CHB][hapmap]
rs1861433	1.00[CHB][hapmap]
rs1861436	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2216106	1.00[CHB][hapmap]
rs2540919	0.86[CHB][hapmap]
rs2540936	0.80[AMR][1000 genomes]
rs2541000	0.86[CHB][hapmap]
rs2691104	1.00[CHB][hapmap]
rs2691109	1.00[CHB][hapmap]
rs2691110	1.00[CHB][hapmap]
rs2691114	1.00[CHB][hapmap]
rs2691115	1.00[CHB][hapmap]
rs2691116	1.00[CHB][hapmap]
rs2691118	1.00[CHB][hapmap]
rs2717494	1.00[CHB][hapmap]
rs2717501	1.00[CHB][hapmap]
rs2717505	1.00[CHB][hapmap]
rs2717509	1.00[CHB][hapmap]
rs2717510	1.00[CHB][hapmap]
rs2717511	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2717512	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2717518	1.00[CHB][hapmap]
rs2717522	1.00[CHB][hapmap]
rs28718824	1.00[CHB][hapmap]
rs2888418	0.90[AFR][1000 genomes]
rs3732070	1.00[JPT][hapmap]
rs3770775	1.00[CHB][hapmap]
rs3845779	1.00[CHB][hapmap]
rs41486347	1.00[CHB][hapmap]
rs4635515	1.00[CHB][hapmap]
rs723673	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7562109	0.85[CHB][hapmap]
rs7581702	1.00[CHB][hapmap]
rs998321	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv2682	chr2:37015550-37060432	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1011014	chr2:37027819-37095895	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv999465	chr2:37029347-37095895	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37051800-37061200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:37052000-37062400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:37058600-37061000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:37058600-37061400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:37058800-37060800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:37058800-37062200	Weak transcription	HUVEC	blood vessel

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