Variant report

Variant	rs316019
Chromosome Location	chr6:160670282-160670283
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13195185	1.00[JPT][hapmap]
rs2450973	1.00[JPT][hapmap]
rs2928035	0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs315978	0.95[GIH][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs315986	0.96[EUR][1000 genomes]
rs316009	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs316010	1.00[EUR][1000 genomes]
rs316020	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs581611	0.97[EUR][1000 genomes]
rs694812	0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][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	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer 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 target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv35098	chr6:160422589-161070870	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2757197	chr6:160432331-161070870	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer 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	nsv818463	chr6:160435569-161025547	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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	nsv1030746	chr6:160592321-160867031	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv538493	chr6:160592321-160867031	Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1030171	chr6:160648469-161091864	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Blood metabolite levels	24816252	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs316019	QKI	cis	cerebellum	SCAN
rs316019	MAS1	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160662200-160671000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:160667800-160674200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr6:160668000-160670400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr6:160668000-160671200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:160668000-160674600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:160668600-160671800	Enhancers	Hela-S3	cervix
7	chr6:160668800-160671600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:160669000-160670400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:160669000-160671200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:160669000-160671600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:160669200-160670600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:160669200-160670600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:160669200-160673600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:160669400-160670400	Enhancers	A549	lung
15	chr6:160669400-160670400	Enhancers	NHEK	skin
16	chr6:160669400-160670600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:160669400-160670800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr6:160669400-160673200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:160669400-160674400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:160669600-160671400	Weak transcription	Fetal Kidney	kidney
21	chr6:160669600-160674400	Weak transcription	Fetal Intestine Small	intestine
22	chr6:160669600-160679000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:160669800-160671000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:160669800-160671400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:160670000-160671000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:160670000-160671200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:160670000-160671600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:160670000-160678200	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:160670200-160671000	Enhancers	Placenta	Placenta
30	chr6:160670200-160676000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links