Variant report

Variant	rs8061505
Chromosome Location	chr16:75697469-75697470
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75690994..75692895-chr16:75695592..75698180,2	MCF-7	breast:
2	chr16:75659014..75660768-chr16:75697180..75699585,2	K562	blood:
3	chr16:75696333..75698717-chr16:75701380..75703728,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11149842	1.00[CEU][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11643215	0.90[CEU][hapmap]
rs12445937	0.85[ASN][1000 genomes]
rs12595883	0.82[JPT][hapmap]
rs12596033	0.87[JPT][hapmap]
rs12596857	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12598094	0.82[JPT][hapmap];0.84[MEX][hapmap]
rs12598741	0.82[JPT][hapmap]
rs12599322	0.82[JPT][hapmap];0.84[MEX][hapmap]
rs12600271	0.87[JPT][hapmap]
rs16940253	0.83[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.81[ASN][1000 genomes]
rs16940467	0.83[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs16941533	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17764821	0.87[JPT][hapmap]
rs1836547	0.80[AMR][1000 genomes]
rs1865493	0.90[CEU][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1874022	0.87[GIH][hapmap]
rs1979717	0.87[JPT][hapmap];0.84[MEX][hapmap]
rs2082751	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2164245	0.87[JPT][hapmap]
rs2242406	0.84[MEX][hapmap]
rs2289063	0.87[JPT][hapmap];0.84[MEX][hapmap]
rs2550904	0.80[JPT][hapmap]
rs2738792	0.81[AMR][1000 genomes]
rs2903106	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3736377	0.80[MEX][hapmap]
rs3743598	0.87[GIH][hapmap];0.84[MEX][hapmap]
rs3743599	0.87[JPT][hapmap];0.87[MEX][hapmap]
rs3743603	0.82[JPT][hapmap];0.83[MEX][hapmap]
rs3743605	0.82[ASN][1000 genomes]
rs3784929	0.88[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3851741	0.84[MEX][hapmap]
rs41505349	0.88[ASW][hapmap];1.00[CEU][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4887833	0.81[ASN][1000 genomes]
rs4888440	0.87[JPT][hapmap]
rs4888441	0.87[GIH][hapmap]
rs5010692	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57252551	0.83[ASN][1000 genomes]
rs57396453	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7186966	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7193066	0.80[CHD][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73615030	0.86[ASN][1000 genomes]
rs8051241	0.87[ASN][1000 genomes]
rs8060972	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs963820	0.94[CHD][hapmap];0.93[JPT][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9934159	1.00[CEU][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8061505	ADAT1	cis	cerebellum	SCAN
rs8061505	ST3GAL2	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75692200-75699400	Weak transcription	HSMMtube	muscle
2	chr16:75692400-75698600	Weak transcription	A549	lung
3	chr16:75692400-75704000	Weak transcription	Psoas Muscle	Psoas
4	chr16:75693800-75698600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr16:75693800-75723200	Weak transcription	Ovary	ovary
6	chr16:75694400-75705800	Weak transcription	Pancreas	Pancrea
7	chr16:75694600-75698000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr16:75694600-75698600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr16:75694800-75697600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr16:75694800-75697800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr16:75695000-75698800	Weak transcription	Fetal Muscle Leg	muscle
12	chr16:75695000-75702200	Weak transcription	Spleen	Spleen
13	chr16:75695200-75697600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:75695200-75699600	Weak transcription	Liver	Liver
15	chr16:75695400-75698600	Weak transcription	Fetal Thymus	thymus
16	chr16:75695600-75698800	Weak transcription	HSMM	muscle
17	chr16:75695600-75699200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr16:75695600-75704600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:75695600-75713200	Weak transcription	Right Atrium	heart
20	chr16:75695800-75699200	Weak transcription	Placenta	Placenta
21	chr16:75696000-75697600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr16:75696000-75697600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr16:75696000-75697600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:75696000-75697600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:75696000-75697600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr16:75696000-75697600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr16:75696000-75697600	Weak transcription	NHDF-Ad	bronchial
28	chr16:75696000-75698200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:75696000-75698600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr16:75696000-75698800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:75696000-75699400	Weak transcription	Brain Anterior Caudate	brain
32	chr16:75696000-75706400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr16:75696000-75713200	Weak transcription	Left Ventricle	heart
34	chr16:75696000-75716200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:75696200-75697800	Weak transcription	Brain Germinal Matrix	brain
36	chr16:75696200-75697800	Weak transcription	Fetal Lung	lung
37	chr16:75696200-75698000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr16:75696200-75699600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr16:75696200-75700200	Weak transcription	Thymus	Thymus
40	chr16:75696200-75712400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr16:75696400-75698000	Weak transcription	Primary B cells from cord blood	blood
42	chr16:75696400-75698800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr16:75696400-75700200	Weak transcription	Fetal Stomach	stomach
44	chr16:75696400-75706000	Weak transcription	Aorta	Aorta
45	chr16:75696600-75698600	Weak transcription	Brain Substantia Nigra	brain
46	chr16:75697400-75699000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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