Variant report

Variant	rs12694151
Chromosome Location	chr2:210009429-210009430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10165787	0.81[CHD][hapmap]
rs10208451	0.96[ASN][1000 genomes]
rs1023760	0.95[ASN][1000 genomes]
rs1030959	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1160393	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11694830	0.81[ASN][1000 genomes]
rs12466506	1.00[ASN][1000 genomes]
rs13010640	0.81[CHD][hapmap]
rs13034928	0.94[ASN][1000 genomes]
rs13383583	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1347952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1371438	0.98[ASN][1000 genomes]
rs1439734	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1439737	0.96[ASN][1000 genomes]
rs1439738	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1439744	0.98[ASN][1000 genomes]
rs1561529	0.96[ASN][1000 genomes]
rs1561531	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1583759	1.00[ASN][1000 genomes]
rs2028353	0.83[EUR][1000 genomes]
rs2364823	0.96[ASN][1000 genomes]
rs2364828	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2364829	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886186	0.98[ASN][1000 genomes]
rs2886188	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35022684	0.98[ASN][1000 genomes]
rs3910600	1.00[ASN][1000 genomes]
rs4673442	0.82[ASN][1000 genomes]
rs5017675	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6716886	0.92[ASN][1000 genomes]
rs6740556	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7420275	0.80[ASN][1000 genomes]
rs7421579	0.80[ASN][1000 genomes]
rs7580902	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012184	chr2:209755847-210049331	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv536131	chr2:209755847-210049331	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1009924	chr2:209805661-210042572	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1002578	chr2:209836205-210026339	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv536132	chr2:209836205-210026339	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv584307	chr2:209966941-210024938	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv875762	chr2:209992353-210036655	Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3379718	chr2:209992495-210010216	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
12	nsv1010749	chr2:209999344-210026471	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv875763	chr2:210000582-210036655	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210003400-210012000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:210005000-210010000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:210006200-210011000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:210006200-210025400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:210007000-210010600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:210007200-210011200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:210009200-210010400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:210009200-210010400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:210009400-210009800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:210009400-210010400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:210009400-210010400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:210009400-210011000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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