Variant report

Variant	rs13407508
Chromosome Location	chr2:113794759-113794760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113793052..113795716-chr2:113797814..113799974,2	K562	blood:
2	chr2:113793052..113795828-chr2:113797640..113799974,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10165797	0.95[CHB][hapmap]
rs10206428	0.90[CHB][hapmap]
rs11123158	0.95[CHB][hapmap];0.87[CHD][hapmap]
rs11673918	0.84[ASN][1000 genomes]
rs11891020	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12475161	0.90[CHB][hapmap]
rs13030063	0.85[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs13033574	0.81[ASN][1000 genomes]
rs1800930	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs2305150	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2472188	0.90[CHB][hapmap]
rs2515401	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs2515402	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs2862772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3180235	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs4849142	0.85[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs60078854	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6710007	0.85[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs6744288	0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs6758965	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs768627	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs921065	0.89[CEU][hapmap];0.82[CHB][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs957201	0.90[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	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv961339	chr2:113772508-113796318	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv874885	chr2:113783671-113807021	Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13407508	LOC654433	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113765600-113797400	Weak transcription	Gastric	stomach
2	chr2:113794200-113794800	Enhancers	Stomach Mucosa	stomach
3	chr2:113794400-113794800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:113794600-113794800	Bivalent/Poised TSS	Lung	lung

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