Variant report

Variant	rs60971316
Chromosome Location	chr12:67752437-67752438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10878598	1.00[ASN][1000 genomes]
rs11176668	0.91[ASN][1000 genomes]
rs11176669	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176670	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176673	0.95[ASN][1000 genomes]
rs11176686	1.00[ASN][1000 genomes]
rs11176689	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176703	1.00[ASN][1000 genomes]
rs11176704	1.00[ASN][1000 genomes]
rs11176705	1.00[ASN][1000 genomes]
rs11176707	1.00[ASN][1000 genomes]
rs11176711	0.95[ASN][1000 genomes]
rs12302564	1.00[ASN][1000 genomes]
rs12305377	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306657	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311150	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12314146	1.00[ASN][1000 genomes]
rs3087577	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736630	0.95[ASN][1000 genomes]
rs55646172	0.95[ASN][1000 genomes]
rs55809526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55809587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55906716	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55978724	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56094563	1.00[AMR][1000 genomes]
rs56224819	0.95[ASN][1000 genomes]
rs56728872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58114937	0.95[ASN][1000 genomes]
rs58496439	1.00[AFR][1000 genomes]
rs60009568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60072946	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60077199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60104343	0.91[ASN][1000 genomes]
rs61195985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61219299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61281993	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137520	0.98[ASN][1000 genomes]
rs7296364	0.95[ASN][1000 genomes]
rs7298244	0.95[ASN][1000 genomes]
rs7307353	0.95[ASN][1000 genomes]
rs7312708	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7954050	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7976686	0.95[ASN][1000 genomes]
rs7978989	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67733800-67761800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:67741800-67759200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:67748000-67753600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:67748000-67753800	Enhancers	HSMM	muscle
5	chr12:67748600-67752600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:67748600-67752600	Weak transcription	Right Atrium	heart
7	chr12:67749800-67753600	Enhancers	Osteobl	bone
8	chr12:67750200-67752600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:67750200-67752600	Weak transcription	Psoas Muscle	Psoas
10	chr12:67750200-67752800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:67750200-67753400	Weak transcription	Ovary	ovary
12	chr12:67750400-67752600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:67750400-67752600	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:67750400-67752800	Weak transcription	Fetal Heart	heart
15	chr12:67751000-67753200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:67751200-67752800	Flanking Active TSS	HSMMtube	muscle
17	chr12:67751200-67754000	Enhancers	Fetal Muscle Leg	muscle
18	chr12:67751400-67752800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:67751400-67753200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:67751400-67753800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:67751400-67753800	Enhancers	NHDF-Ad	bronchial
22	chr12:67751600-67752800	Weak transcription	Fetal Kidney	kidney
23	chr12:67751600-67752800	Enhancers	Left Ventricle	heart
24	chr12:67751800-67752600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr12:67751800-67752800	Enhancers	Fetal Muscle Trunk	muscle
26	chr12:67752000-67753200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:67752200-67752800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:67752200-67752800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr12:67752200-67753000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:67752200-67753200	Enhancers	Fetal Thymus	thymus
31	chr12:67752200-67753200	Flanking Active TSS	Dnd41	blood
32	chr12:67752200-67753600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:67752200-67753600	Enhancers	Adipose Nuclei	Adipose
34	chr12:67752200-67753600	Enhancers	Fetal Stomach	stomach
35	chr12:67752200-67753600	Enhancers	NH-A	brain
36	chr12:67752200-67753600	Enhancers	NHLF	lung
37	chr12:67752400-67752600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:67752400-67752600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr12:67752400-67752800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:67752400-67753000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:67752400-67753200	Enhancers	Primary hematopoietic stem cells	blood
42	chr12:67752400-67753200	Enhancers	Thymus	Thymus

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