Variant report

Variant	rs1491137
Chromosome Location	chr4:127646181-127646182
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:127645596..127648097-chr4:127648358..127650119,2	K562	blood:
2	chr4:127645103..127647916-chr4:127657804..127660806,3	K562	blood:
3	chr4:127644087..127646502-chr4:127651699..127653742,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11098889	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1167192	0.99[ASN][1000 genomes]
rs12054615	0.83[ASN][1000 genomes]
rs12642270	0.85[AMR][1000 genomes]
rs12642385	0.83[AMR][1000 genomes]
rs12644037	0.83[AMR][1000 genomes]
rs12648195	0.83[AMR][1000 genomes]
rs12649618	0.83[AMR][1000 genomes]
rs12650738	1.00[ASN][1000 genomes]
rs12651202	0.83[AMR][1000 genomes]
rs13145010	0.90[ASN][1000 genomes]
rs13151312	0.86[ASN][1000 genomes]
rs13435151	0.82[EUR][1000 genomes]
rs1491136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1491138	0.87[ASN][1000 genomes]
rs1503620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011377	0.83[AMR][1000 genomes]
rs17011393	0.83[AMR][1000 genomes]
rs17011398	0.83[AMR][1000 genomes]
rs17011450	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17011452	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17011495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2008243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047858	0.83[ASN][1000 genomes]
rs2174183	0.86[ASN][1000 genomes]
rs2654715	0.87[ASN][1000 genomes]
rs28854355	0.85[AMR][1000 genomes]
rs313108	0.91[ASN][1000 genomes]
rs313110	0.91[ASN][1000 genomes]
rs313111	0.91[ASN][1000 genomes]
rs313112	0.91[ASN][1000 genomes]
rs313116	0.92[ASN][1000 genomes]
rs313124	0.80[CHD][hapmap]
rs4146615	1.00[AMR][1000 genomes]
rs5004421	0.82[ASN][1000 genomes]
rs56654496	0.82[ASN][1000 genomes]
rs56949181	0.85[AMR][1000 genomes]
rs57259679	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57840308	0.83[AMR][1000 genomes]
rs58743449	0.84[ASN][1000 genomes]
rs59319887	0.85[AMR][1000 genomes]
rs60412879	0.83[AMR][1000 genomes]
rs61031744	0.84[ASN][1000 genomes]
rs61594384	0.85[AMR][1000 genomes]
rs61613462	0.84[ASN][1000 genomes]
rs6817065	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840212	0.82[EUR][1000 genomes]
rs6840324	0.82[EUR][1000 genomes]
rs73846080	0.95[ASN][1000 genomes]
rs73846081	0.95[ASN][1000 genomes]
rs73846082	0.95[ASN][1000 genomes]
rs73846083	0.95[ASN][1000 genomes]
rs7660412	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7683495	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7697724	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[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	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1013854	chr4:127508969-127663216	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1009499	chr4:127532856-127659010	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv537243	chr4:127532856-127659010	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1007477	chr4:127561735-127726291	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv537244	chr4:127561735-127726291	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2752024	chr4:127584697-127671942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv595386	chr4:127597069-127668828	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1028609	chr4:127597319-127664629	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1491137	CCDC88C	trans	brain	seeQTL
rs1491137	GPR88	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127637200-127647200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr4:127639600-127647400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:127646000-127646200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:127646000-127649200	Genic enhancers	K562	blood

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