Variant report

Variant	rs7311632
Chromosome Location	chr12:58086340-58086341
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57915543..57917497-chr12:58086337..58088295,2	K562	blood:
2	chr12:57983103..57986007-chr12:58086180..58089172,2	MCF-7	breast:
3	chr12:58080821..58083516-chr12:58085497..58087662,2	MCF-7	breast:
4	chr12:58072546..58075361-chr12:58085496..58087677,2	K562	blood:
5	chr12:58085407..58089363-chr12:58117669..58123604,12	MCF-7	breast:
6	chr12:58085694..58088995-chr12:58116929..58123534,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166908	Chromatin interaction
ENSG00000257499	Chromatin interaction
ENSG00000255737	Chromatin interaction
ENSG00000166987	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1027315	0.86[EUR][1000 genomes]
rs1038914	0.90[JPT][hapmap]
rs1050045	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11172304	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12826708	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12826985	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1564374	0.90[JPT][hapmap]
rs1633359	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2270777	0.88[CEU][hapmap];0.86[GIH][hapmap];0.87[TSI][hapmap]
rs2277324	0.84[CEU][hapmap];0.90[JPT][hapmap]
rs2277326	0.83[GIH][hapmap]
rs2307097	0.83[GIH][hapmap]
rs238516	0.81[MKK][hapmap]
rs238517	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs701007	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7134861	0.81[EUR][1000 genomes]
rs7138608	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295422	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304145	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7952989	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966795	0.96[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs799265	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs799267	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs903067	0.90[JPT][hapmap]
rs923828	0.92[CEU][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv508676	chr12:58045136-58098538	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
4	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7311632	OR6C4	cis	cerebellum	SCAN
rs7311632	TSPAN31	cis	cerebellum	SCAN
rs7311632	KRT8	cis	cerebellum	SCAN
rs7311632	TSFM	Cis_1M	lymphoblastoid	RTeQTL
rs7311632	FAM119B	cis	cerebellum	SCAN
rs7311632	STAT6	cis	parietal	SCAN
rs7311632	TENC1	cis	cerebellum	SCAN
rs7311632	KRT75	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58080600-58087200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:58084200-58087200	Weak transcription	Psoas Muscle	Psoas
3	chr12:58085800-58087200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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