Variant report

Variant	rs17665064
Chromosome Location	chr6:149226781-149226782
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11965252	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1384668	1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17665117	0.94[CHD][hapmap];1.00[JPT][hapmap]
rs17665489	0.80[ASN][1000 genomes]
rs17665513	1.00[CHD][hapmap];0.80[ASN][1000 genomes]
rs17721845	0.94[CHD][hapmap];0.87[TSI][hapmap];0.80[ASN][1000 genomes]
rs1871921	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6908004	1.00[CHD][hapmap];0.80[ASN][1000 genomes]
rs72994212	0.80[ASN][1000 genomes]
rs72994213	0.80[ASN][1000 genomes]
rs72994230	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032690	chr6:149206106-149398712	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv464074	chr6:149211090-149242095	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv604844	chr6:149211090-149242095	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv464075	chr6:149221294-149242095	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv470865	chr6:149221294-149242095	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv604845	chr6:149221294-149242095	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs17665064	PPIL4	cis	multi-tissue	Pritchard
rs17665064	UST	cis	cerebellum	SCAN
rs17665064	INCENP	cis	Liver	GTEx
rs17665064	hCT1643782.3	trans	multi-tissue	Pritchard
rs17665064	RBM25	trans	multi-tissue	Pritchard
rs17665064	RBM25	cis	Liver	GTEx
rs17665064	INCENP	trans	multi-tissue	Pritchard

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149207800-149237400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:149208000-149229800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:149209000-149247600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:149209800-149230800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:149210200-149230200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:149210200-149240200	Weak transcription	Primary B cells from cord blood	blood
7	chr6:149210400-149235000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr6:149211600-149255400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:149212200-149230200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:149213200-149233400	Weak transcription	Fetal Heart	heart
11	chr6:149217600-149236800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:149221000-149230600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:149222400-149230200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:149222400-149230600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:149224400-149227800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:149225400-149233400	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:149226000-149226800	Enhancers	Esophagus	oesophagus
18	chr6:149226200-149226800	Enhancers	Fetal Muscle Trunk	muscle
19	chr6:149226200-149227200	Enhancers	Fetal Stomach	stomach
20	chr6:149226200-149227400	Enhancers	Fetal Brain Female	brain
21	chr6:149226400-149226800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:149226400-149226800	Enhancers	Pancreas	Pancrea
23	chr6:149226400-149227400	Enhancers	Fetal Brain Male	brain
24	chr6:149226400-149227400	Enhancers	Left Ventricle	heart
25	chr6:149226600-149226800	Enhancers	Lung	lung
26	chr6:149226600-149227000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:149226600-149252800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:149226600-149255600	Weak transcription	Ovary	ovary

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