Variant report

Variant	rs12767760
Chromosome Location	chr10:99294797-99294798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:99293924..99295180-chr10:99312973..99313927,7	MCF-7	breast:
2	chr10:99293705..99296189-chr10:99297526..99301633,5	MCF-7	breast:
3	chr10:99294357..99295108-chr10:99313347..99313880,2	K562	blood:
4	chr10:99294294..99295064-chr10:99331667..99332520,3	MCF-7	breast:
5	chr10:99258502..99260593-chr10:99293993..99296377,2	K562	blood:
6	chr10:99294371..99295088-chr10:99371759..99372722,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165886	Chromatin interaction
ENSG00000165887	Chromatin interaction
ENSG00000155229	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10882957	0.95[ASN][1000 genomes]
rs10882963	0.91[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.91[ASN][1000 genomes]
rs10882967	0.85[ASN][1000 genomes]
rs1107517	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1107518	0.94[ASN][1000 genomes]
rs11189245	0.81[CHB][hapmap]
rs11189253	0.83[CHB][hapmap]
rs11189266	0.82[EUR][1000 genomes]
rs11189267	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11189270	0.98[ASN][1000 genomes]
rs11189274	0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11189280	0.92[ASN][1000 genomes]
rs11189284	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs11511362	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11814566	0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12355384	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12357750	0.92[ASN][1000 genomes]
rs12415338	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12766074	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12774288	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12775868	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12779451	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12783481	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1417408	0.95[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.98[ASN][1000 genomes]
rs3814554	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4244325	0.83[ASN][1000 genomes]
rs4244326	0.81[ASN][1000 genomes]
rs4917774	0.86[CHB][hapmap]
rs4919104	0.83[CEU][hapmap]
rs4919105	0.81[CHB][hapmap]
rs4919108	0.98[ASN][1000 genomes]
rs4919109	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs68084394	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7075656	0.80[CHB][hapmap]
rs7077976	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7094973	0.86[CHB][hapmap];0.83[CHD][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs7096611	0.81[CHB][hapmap]
rs7342022	0.81[ASN][1000 genomes]
rs7475851	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7911122	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer 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 miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1036494	chr10:99267639-99345207	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv7508	chr10:99285375-99330501	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Obesity-related traits	23251661	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12767760	RRP12	cis	cerebellum	SCAN
rs12767760	MMS19	cis	parietal	SCAN
rs12767760	RRP12	cis	parietal	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99277800-99301800	Weak transcription	Gastric	stomach
2	chr10:99278000-99302600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr10:99278200-99298800	Weak transcription	Aorta	Aorta
4	chr10:99278400-99301800	Weak transcription	Spleen	Spleen
5	chr10:99278600-99300200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr10:99281400-99302200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr10:99282200-99301800	Weak transcription	Pancreas	Pancrea
8	chr10:99282400-99298200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:99282800-99299400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:99285200-99298600	Weak transcription	Right Atrium	heart
11	chr10:99286200-99299200	Weak transcription	Ovary	ovary
12	chr10:99287200-99298200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:99290000-99298200	Weak transcription	Adipose Nuclei	Adipose
14	chr10:99290000-99299400	Weak transcription	Right Ventricle	heart
15	chr10:99291000-99295000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:99291000-99295000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:99291200-99295000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:99291400-99295000	Enhancers	Fetal Muscle Trunk	muscle
19	chr10:99291800-99295000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr10:99291800-99297800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:99292000-99298200	Weak transcription	HUVEC	blood vessel
22	chr10:99292000-99298200	Weak transcription	NHDF-Ad	bronchial
23	chr10:99292000-99298600	Weak transcription	Lung	lung
24	chr10:99292400-99295000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr10:99292400-99295000	Enhancers	Brain Anterior Caudate	brain
26	chr10:99292600-99294800	Enhancers	Esophagus	oesophagus
27	chr10:99292600-99295000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:99292600-99295000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr10:99292800-99298200	Weak transcription	NHEK	skin
30	chr10:99293000-99295000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr10:99293000-99295000	Enhancers	Brain Substantia Nigra	brain
32	chr10:99293200-99298200	Weak transcription	A549	lung
33	chr10:99293200-99298600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:99293200-99301800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr10:99293400-99297800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr10:99293400-99297800	Weak transcription	Osteobl	bone
37	chr10:99293400-99298200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:99293400-99298600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr10:99293400-99298800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr10:99293400-99298800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr10:99293400-99299400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr10:99293400-99299600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr10:99293400-99300400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr10:99293600-99298200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr10:99293600-99298600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr10:99294000-99295000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:99294000-99295000	Enhancers	Brain Angular Gyrus	brain
48	chr10:99294000-99295000	Enhancers	Brain Hippocampus Middle	brain
49	chr10:99294000-99296000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr10:99294000-99297800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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