Variant report

Variant	rs316020
Chromosome Location	chr6:160669081-160669082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2774217	0.85[ASN][1000 genomes]
rs2928035	0.91[GIH][hapmap];0.82[MEX][hapmap]
rs315978	1.00[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs315986	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs316009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316010	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316019	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];0.89[ASN][1000 genomes]
rs595853	0.85[ASN][1000 genomes]
rs694812	0.86[GIH][hapmap];0.82[MEX][hapmap]
rs71551158	0.85[ASN][1000 genomes]
rs9365165	1.00[JPT][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 ratios	24816252	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs316020	MAS1	cis	cerebellum	SCAN
rs316020	QKI	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160661000-160669400	Weak transcription	A549	lung
2	chr6:160661200-160669400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:160662200-160671000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:160667400-160669200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:160667800-160669200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:160667800-160669400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:160667800-160669800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:160667800-160669800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:160667800-160670000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr6:160667800-160674200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:160668000-160669200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:160668000-160669200	Enhancers	Placenta	Placenta
13	chr6:160668000-160669400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:160668000-160669600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr6:160668000-160670000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:160668000-160670400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr6:160668000-160671200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:160668000-160674600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:160668200-160669600	Enhancers	Fetal Kidney	kidney
20	chr6:160668200-160670000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:160668400-160669400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:160668400-160670000	Enhancers	Osteobl	bone
23	chr6:160668600-160669200	Enhancers	Fetal Muscle Trunk	muscle
24	chr6:160668600-160669400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:160668600-160669600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:160668600-160669600	Enhancers	Fetal Intestine Small	intestine
27	chr6:160668600-160670000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:160668600-160670200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:160668600-160671800	Enhancers	Hela-S3	cervix
30	chr6:160668800-160671600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:160669000-160669400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:160669000-160669400	Enhancers	Fetal Muscle Leg	muscle
33	chr6:160669000-160669600	Enhancers	NHLF	lung
34	chr6:160669000-160670000	Enhancers	Colon Smooth Muscle	Colon
35	chr6:160669000-160670400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:160669000-160671200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:160669000-160671600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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