Variant report

Variant	rs8061183
Chromosome Location	chr16:75587966-75587967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75587108..75590001-chr17:56735204..56737947,2	MCF-7	breast:
2	chr16:75568229..75570112-chr16:75587872..75589519,2	K562	blood:
3	chr16:75586208..75590870-chr16:75596068..75600585,8	K562	blood:
4	chr16:75465449..75469390-chr16:75587663..75590801,6	K562	blood:
5	chr16:75587953..75591056-chr16:75597056..75601894,6	MCF-7	breast:
6	chr16:75549723..75552104-chr16:75587869..75590374,4	MCF-7	breast:
7	chr16:75587027..75591762-chr16:75651045..75658145,7	K562	blood:
8	chr16:75466075..75467662-chr16:75587828..75590094,2	MCF-7	breast:
9	chr16:75587491..75591972-chr16:75596703..75602966,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153774	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000135702	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000034713	Chromatin interaction
ENSG00000262583	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11149840	0.81[JPT][hapmap]
rs11641617	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11642669	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12598751	0.82[JPT][hapmap]
rs12599863	0.80[EUR][1000 genomes]
rs2242407	0.94[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2432619	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2472199	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2472202	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2550885	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2550886	0.94[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2550887	0.94[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2550910	0.94[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2550911	0.94[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2550912	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2550913	0.85[CEU][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs2572093	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2641799	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2641800	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2641801	0.85[CEU][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs2641804	0.94[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2641805	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2641806	0.87[EUR][1000 genomes]
rs2641809	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2650396	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2738791	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2738793	0.93[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2738796	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2738801	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2738802	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2738808	0.94[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2738816	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2738817	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2738818	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2738819	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3743602	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3784932	0.84[MEX][hapmap]
rs3826107	0.84[MEX][hapmap]
rs4149501	0.84[CHD][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap]
rs4149504	0.84[MEX][hapmap]
rs4887832	0.81[EUR][1000 genomes]
rs7199936	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7202717	0.84[CHD][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap]
rs8046531	0.83[MEX][hapmap]
rs8055668	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
6	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv870450	chr16:75538457-75591359	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	41 gene(s)	inside rSNPs	diseases
10	nsv457526	chr16:75539885-75587966	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
11	nsv572987	chr16:75539885-75587966	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
12	nsv906929	chr16:75569739-75594918	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs8061183	C1orf126	trans	cerebellum	SCAN
rs8061183	ADAT1	cis	Skin Sun Exposed Lower leg	GTEx
rs8061183	ADAT1	cis	Adipose Subcutaneous	GTEx
rs8061183	ADAT1	cis	Nerve Tibial	GTEx
rs8061183	ADAT1	cis	Muscle Skeletal	GTEx
rs8061183	ADAT1	cis	lung	GTEx
rs8061183	ADAT1	cis	Thyroid	GTEx
rs8061183	ADAT1	cis	Artery Tibial	GTEx
rs8061183	ADAT1	cis	cerebellum	SCAN
rs8061183	ADAT1	cis	Whole Blood	GTEx
rs8061183	ADAT1	cis	Esophagus Mucosa	GTEx
rs8061183	ADAT1	cis	Esophagus Muscularis	GTEx
rs8061183	ADAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75551200-75589200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:75564200-75589200	Weak transcription	Lung	lung
3	chr16:75569200-75588600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr16:75569400-75588400	Weak transcription	Osteobl	bone
5	chr16:75570000-75588600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:75570000-75588800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:75570600-75588600	Weak transcription	NHEK	skin
8	chr16:75570600-75588800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr16:75570600-75589000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:75571800-75588600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:75572200-75588600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:75572800-75588600	Weak transcription	Brain Germinal Matrix	brain
13	chr16:75572800-75588800	Weak transcription	Aorta	Aorta
14	chr16:75572800-75588800	Weak transcription	Right Ventricle	heart
15	chr16:75573400-75588600	Weak transcription	Fetal Lung	lung
16	chr16:75574000-75588800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:75574200-75589000	Weak transcription	Pancreas	Pancrea
18	chr16:75574400-75588400	Weak transcription	Colon Smooth Muscle	Colon
19	chr16:75574400-75588800	Weak transcription	Fetal Kidney	kidney
20	chr16:75575200-75589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:75575600-75588800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:75576000-75588400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:75576000-75588800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:75576200-75588600	Weak transcription	Hela-S3	cervix
25	chr16:75578400-75588800	Weak transcription	Fetal Intestine Large	intestine
26	chr16:75578400-75589200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:75578400-75589200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:75578400-75589200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr16:75578600-75588600	Weak transcription	Fetal Brain Female	brain
30	chr16:75578600-75589200	Weak transcription	Esophagus	oesophagus
31	chr16:75578600-75589200	Weak transcription	Left Ventricle	heart
32	chr16:75578800-75588400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr16:75578800-75588400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:75578800-75588600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:75578800-75588800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:75578800-75588800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr16:75578800-75588800	Weak transcription	HSMMtube	muscle
38	chr16:75579000-75588600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:75579200-75588800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr16:75579200-75588800	Weak transcription	Ovary	ovary
41	chr16:75579400-75588800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:75580800-75588800	Weak transcription	Fetal Stomach	stomach
43	chr16:75583400-75588800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:75584200-75588800	Weak transcription	Brain Substantia Nigra	brain
45	chr16:75584200-75588800	Weak transcription	Fetal Muscle Leg	muscle
46	chr16:75584400-75588800	Weak transcription	Adipose Nuclei	Adipose
47	chr16:75584400-75589000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr16:75584400-75589000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr16:75584400-75589200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr16:75584600-75588600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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