Variant report

Variant	rs896637
Chromosome Location	chr2:208957750-208957751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10932231	0.88[ASN][1000 genomes]
rs10932232	0.87[ASN][1000 genomes]
rs10932233	0.88[ASN][1000 genomes]
rs10932237	0.85[ASN][1000 genomes]
rs10932238	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11681747	0.96[ASN][1000 genomes]
rs11683477	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11694118	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11892539	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11892554	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11894673	0.89[ASN][1000 genomes]
rs11896152	0.88[ASN][1000 genomes]
rs11896248	0.88[ASN][1000 genomes]
rs12465847	0.94[ASN][1000 genomes]
rs12987978	0.88[ASN][1000 genomes]
rs16840404	0.88[ASN][1000 genomes]
rs17538082	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2123296	0.98[ASN][1000 genomes]
rs34100088	0.88[ASN][1000 genomes]
rs35306034	0.88[ASN][1000 genomes]
rs4234085	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4287753	0.88[ASN][1000 genomes]
rs4673378	0.83[ASN][1000 genomes]
rs4675729	0.89[ASN][1000 genomes]
rs4675730	0.89[ASN][1000 genomes]
rs4675731	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62192797	0.89[ASN][1000 genomes]
rs6711974	0.89[ASN][1000 genomes]
rs6723206	0.89[ASN][1000 genomes]
rs6727089	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6727122	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6735060	0.98[ASN][1000 genomes]
rs6746998	0.88[ASN][1000 genomes]
rs7422654	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7422655	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875744	chr2:208952810-208994045	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs896637	NDUFS1	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208951600-208957800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:208956400-208957800	Enhancers	Fetal Stomach	stomach
3	chr2:208956800-208958000	Enhancers	HSMMtube	muscle
4	chr2:208957000-208957800	Enhancers	Fetal Intestine Large	intestine
5	chr2:208957000-208958200	Enhancers	Fetal Heart	heart
6	chr2:208957200-208957800	Enhancers	HepG2	liver
7	chr2:208957200-208961000	Enhancers	Placenta	Placenta

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