Variant report

Variant	rs6708806
Chromosome Location	chr2:12119706-12119707
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12463701	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464227	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12469736	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471363	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12472165	1.00[ASN][1000 genomes]
rs12475585	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476249	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478633	1.00[ASN][1000 genomes]
rs12478664	1.00[ASN][1000 genomes]
rs12478705	1.00[ASN][1000 genomes]
rs12991902	1.00[ASN][1000 genomes]
rs16857959	1.00[YRI][hapmap]
rs16858077	0.80[EUR][1000 genomes]
rs28420399	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34506780	1.00[ASN][1000 genomes]
rs34819724	1.00[ASN][1000 genomes]
rs34900642	1.00[ASN][1000 genomes]
rs35954069	1.00[ASN][1000 genomes]
rs41378155	1.00[ASN][1000 genomes]
rs4387758	1.00[YRI][hapmap]
rs58143595	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60510807	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60873627	1.00[ASN][1000 genomes]
rs6708295	0.93[EUR][1000 genomes]
rs6709058	0.80[EUR][1000 genomes]
rs6715248	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715988	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734988	0.93[EUR][1000 genomes]
rs6760198	0.80[EUR][1000 genomes]
rs71446438	1.00[ASN][1000 genomes]
rs73915889	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915899	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915902	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918407	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918410	1.00[ASN][1000 genomes]
rs73918411	1.00[ASN][1000 genomes]
rs73918413	1.00[ASN][1000 genomes]
rs7593141	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv580999	chr2:12119686-12134346	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12115800-12127200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:12116000-12121000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:12116400-12122600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:12119600-12120000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:12119600-12120000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:12119600-12120200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:12119600-12120200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:12119600-12120200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:12119600-12120200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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