Variant report

Variant	rs1795886
Chromosome Location	chr12:60087572-60087573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1000708	1.00[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10437957	0.96[CEU][hapmap];0.91[CHB][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs10783999	0.93[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11173156	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12426819	1.00[ASW][hapmap];0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.92[MEX][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1693596	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1693609	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2132872	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2464685	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2706285	0.95[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2706299	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2706301	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2711657	0.84[EUR][1000 genomes]
rs2711666	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4405356	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs995343	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2829972	chr12:60079404-60111653	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv899132	chr12:60087572-60211476	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1795886	KIF5A	cis	cerebellum	SCAN
rs1795886	METTL7B	cis	cerebellum	SCAN
rs1795886	SLC16A7	cis	cerebellum	SCAN
rs1795886	ERBB3	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60026600-60089200	Weak transcription	Gastric	stomach
2	chr12:60045800-60099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:60050800-60098600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:60069600-60131400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr12:60071600-60098600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:60072200-60098600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:60072800-60098000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:60073000-60089000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:60084400-60090800	Weak transcription	Fetal Heart	heart
10	chr12:60085200-60098600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:60086000-60088200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:60086000-60102400	Weak transcription	Primary T cells from cord blood	blood
13	chr12:60086200-60087800	Weak transcription	NHDF-Ad	bronchial
14	chr12:60086200-60088800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:60086200-60089000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:60086200-60089000	Weak transcription	Left Ventricle	heart
17	chr12:60086200-60098400	Weak transcription	Primary B cells from cord blood	blood
18	chr12:60086200-60105200	Weak transcription	Aorta	Aorta
19	chr12:60086200-60106400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:60087400-60087600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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