Variant report

Variant	rs11250131
Chromosome Location	chr8:11251175-11251176
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11141582..11144222-chr8:11248890..11251574,2	K562	blood:

Variant related genes	Relation type
ENSG00000104643	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1047950	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10481454	1.00[CHB][hapmap]
rs10503420	1.00[JPT][hapmap]
rs11250130	0.81[CEU][hapmap]
rs11774569	1.00[CHB][hapmap]
rs11781637	0.81[CEU][hapmap]
rs11784572	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12547100	0.84[ASN][1000 genomes]
rs12550129	0.84[ASN][1000 genomes]
rs12676062	1.00[JPT][hapmap]
rs12676613	1.00[JPT][hapmap]
rs12682349	0.80[AMR][1000 genomes]
rs13260727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[ASN][1000 genomes]
rs13274106	0.84[ASN][1000 genomes]
rs1435277	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1435282	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560971	1.00[CHB][hapmap];0.81[MEX][hapmap]
rs17153118	1.00[JPT][hapmap]
rs2245232	1.00[CHB][hapmap]
rs2246606	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs2249804	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs2250028	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2409756	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[ASN][1000 genomes]
rs2437152	0.84[ASN][1000 genomes]
rs2572379	0.84[ASN][1000 genomes]
rs2572380	0.84[ASN][1000 genomes]
rs2572382	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2572385	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2572386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[ASN][1000 genomes]
rs2572394	0.84[ASN][1000 genomes]
rs2572395	0.84[ASN][1000 genomes]
rs2572397	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2572398	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2572399	0.84[ASN][1000 genomes]
rs2572400	0.84[ASN][1000 genomes]
rs2572440	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2736290	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2736292	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap]
rs2736293	0.84[ASN][1000 genomes]
rs2736294	0.84[ASN][1000 genomes]
rs2736295	1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[ASN][1000 genomes]
rs2736296	0.84[ASN][1000 genomes]
rs2736297	0.84[ASN][1000 genomes]
rs2736298	0.84[ASN][1000 genomes]
rs2736300	0.84[ASN][1000 genomes]
rs2736303	0.84[ASN][1000 genomes]
rs2736304	0.84[ASN][1000 genomes]
rs2736310	1.00[CHD][hapmap];0.92[ASN][1000 genomes]
rs2736311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs35009431	0.84[ASN][1000 genomes]
rs4631424	0.84[ASN][1000 genomes]
rs4841524	0.84[ASN][1000 genomes]
rs4841525	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs57629785	0.84[ASN][1000 genomes]
rs6601584	0.84[ASN][1000 genomes]
rs6601585	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6980481	0.84[ASN][1000 genomes]
rs7821302	0.84[ASN][1000 genomes]
rs7821459	0.84[ASN][1000 genomes]
rs7828263	0.84[ASN][1000 genomes]
rs7832747	1.00[JPT][hapmap]
rs7834572	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv470183	chr8:11236975-11307118	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv465465	chr8:11245064-11307118	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv610275	chr8:11245064-11307118	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs11250131	TDH	cis	cerebellum	SCAN
rs11250131	TDH	cis	parietal	SCAN
rs11250131	FLJ10661	cis	cerebellum	SCAN
rs11250131	CTSB	cis	cerebellum	SCAN
rs11250131	DEFB136	cis	parietal	SCAN
rs11250131	PRSS55	cis	cerebellum	SCAN
rs11250131	C8orf13	cis	multi-tissue	Pritchard
rs11250131	C8orf79	cis	parietal	SCAN
rs11250131	MFHAS1	cis	cerebellum	SCAN
rs11250131	DEFB134	cis	cerebellum	SCAN
rs11250131	CLDN23	cis	multi-tissue	Pritchard
rs11250131	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs11250131	DEFB136	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11250200-11251400	Enhancers	Fetal Heart	heart
2	chr8:11250200-11251400	Enhancers	Gastric	stomach
3	chr8:11250200-11251800	Enhancers	Pancreas	Pancrea
4	chr8:11250600-11251200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:11250600-11251600	Enhancers	Stomach Mucosa	stomach
6	chr8:11250800-11251400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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