Variant report

Variant	rs10195917
Chromosome Location	chr2:178443121-178443122
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	chr2:178442079..178444998-chr2:178454524..178456659,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10164417	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10165142	0.84[EUR][1000 genomes]
rs10172355	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181259	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs10497497	0.91[CEU][hapmap]
rs10497504	0.92[CEU][hapmap]
rs10803912	0.92[CEU][hapmap]
rs10930797	0.86[EUR][1000 genomes]
rs10930802	0.80[EUR][1000 genomes]
rs11679519	0.91[CEU][hapmap]
rs11691740	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694988	1.00[CEU][hapmap]
rs11889272	0.92[CEU][hapmap]
rs11889488	0.80[EUR][1000 genomes]
rs11893903	0.83[EUR][1000 genomes]
rs12620285	0.88[CEU][hapmap]
rs12988366	1.00[CEU][hapmap];0.83[CHD][hapmap]
rs13014417	0.92[CEU][hapmap]
rs13431091	0.92[CEU][hapmap]
rs13431105	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1345138	0.92[CEU][hapmap]
rs1348851	0.92[CEU][hapmap]
rs1348852	0.83[CEU][hapmap];0.83[CHD][hapmap]
rs1374438	0.92[CEU][hapmap]
rs1446839	0.91[CEU][hapmap]
rs1534304	0.85[CEU][hapmap]
rs1852530	1.00[CEU][hapmap]
rs1867905	0.92[CEU][hapmap]
rs2166555	0.83[EUR][1000 genomes]
rs2178017	0.92[CEU][hapmap]
rs2218575	0.92[CEU][hapmap]
rs2293471	0.85[CEU][hapmap]
rs2293475	0.92[CEU][hapmap]
rs2365617	0.80[EUR][1000 genomes]
rs2695315	0.91[CEU][hapmap]
rs4144278	0.92[CEU][hapmap]
rs4243389	0.92[CEU][hapmap]
rs4893829	0.92[CEU][hapmap]
rs4893834	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4893835	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893955	0.83[CEU][hapmap]
rs4893956	0.92[CEU][hapmap]
rs4893964	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4893970	0.91[CEU][hapmap]
rs6433672	0.92[CEU][hapmap]
rs6710109	0.92[CEU][hapmap]
rs6718769	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723014	0.92[CEU][hapmap]
rs6723031	0.91[CEU][hapmap]
rs6723063	0.91[CEU][hapmap]
rs6730406	0.84[CEU][hapmap]
rs6736145	0.81[EUR][1000 genomes]
rs6752779	0.83[CEU][hapmap]
rs6756918	0.91[CEU][hapmap]
rs7571386	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7582179	0.91[CEU][hapmap]
rs7588049	0.92[CEU][hapmap]
rs9288003	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935426	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3506731	chr2:178416851-178482200	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3506732	chr2:178416851-178482200	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3520312	chr2:178417102-178482200	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3520313	chr2:178417102-178482200	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10195917	TTC30B	cis	parietal	SCAN
rs10195917	CHN1	cis	parietal	SCAN
rs10195917	OSBPL6	cis	parietal	SCAN
rs10195917	AGPS	Cis_1M	lymphoblastoid	RTeQTL
rs10195917	PRKRA	cis	parietal	SCAN
rs10195917	AGPS	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178438000-178449800	Weak transcription	Pancreas	Pancrea
2	chr2:178438200-178443600	Weak transcription	HepG2	liver
3	chr2:178440200-178443200	Weak transcription	Fetal Heart	heart
4	chr2:178443000-178443400	Weak transcription	Colon Smooth Muscle	Colon

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