Variant report

Variant	rs11691740
Chromosome Location	chr2:178445161-178445162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178440922..178442592-chr2:178443833..178445640,2	K562	blood:
2	chr2:178342501..178344223-chr2:178445139..178447094,2	K562	blood:
3	chr2:178310253..178311954-chr2:178445116..178447821,2	K562	blood:
4	chr2:178437853..178439568-chr2:178445125..178447970,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10164417	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10165142	0.84[EUR][1000 genomes]
rs10172355	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181259	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs10195917	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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]
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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4893835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893955	0.83[CEU][hapmap]
rs4893956	0.92[CEU][hapmap]
rs4893964	0.81[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	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7582179	0.91[CEU][hapmap]
rs7588049	0.92[CEU][hapmap]
rs9288003	0.81[AFR][1000 genomes];0.90[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11691740	CHN1	cis	parietal	SCAN
rs11691740	OSBPL6	cis	parietal	SCAN
rs11691740	AGPS	cis	cerebellum	SCAN
rs11691740	PRKRA	cis	parietal	SCAN
rs11691740	TTC30B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178438000-178449800	Weak transcription	Pancreas	Pancrea
2	chr2:178443200-178445600	Enhancers	Fetal Heart	heart
3	chr2:178443400-178445800	Enhancers	Colon Smooth Muscle	Colon
4	chr2:178444000-178445400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr2:178444000-178446000	Enhancers	Rectal Smooth Muscle	rectum
6	chr2:178444400-178445200	Enhancers	Fetal Intestine Large	intestine
7	chr2:178444800-178445800	Enhancers	Left Ventricle	heart
8	chr2:178445000-178446000	Enhancers	HepG2	liver
9	chr2:178445000-178457800	Weak transcription	Right Ventricle	heart

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