Variant report

Variant	rs733642
Chromosome Location	chr12:67752163-67752164
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11176650	0.84[AMR][1000 genomes]
rs11836317	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12300918	0.84[AMR][1000 genomes]
rs17103634	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17103637	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17103644	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17103646	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17103688	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17103691	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17103725	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17184182	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17184510	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17781591	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17781675	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17781844	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1827235	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3850600	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3850601	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59304254	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs74100357	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74100358	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74100359	0.92[AMR][1000 genomes];0.95[EUR][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:36 , 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	chr12:67748400-67752200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:67748600-67752200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:67748600-67752600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:67748600-67752600	Weak transcription	Right Atrium	heart
9	chr12:67749800-67752400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:67749800-67753600	Enhancers	Osteobl	bone
11	chr12:67750200-67752200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:67750200-67752200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:67750200-67752200	Weak transcription	Fetal Stomach	stomach
14	chr12:67750200-67752200	Weak transcription	NH-A	brain
15	chr12:67750200-67752600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:67750200-67752600	Weak transcription	Psoas Muscle	Psoas
17	chr12:67750200-67752800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:67750200-67753400	Weak transcription	Ovary	ovary
19	chr12:67750400-67752600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:67750400-67752600	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:67750400-67752800	Weak transcription	Fetal Heart	heart
22	chr12:67750600-67752200	Weak transcription	Adipose Nuclei	Adipose
23	chr12:67751000-67753200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:67751200-67752800	Flanking Active TSS	HSMMtube	muscle
25	chr12:67751200-67754000	Enhancers	Fetal Muscle Leg	muscle
26	chr12:67751400-67752200	Enhancers	Dnd41	blood
27	chr12:67751400-67752800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:67751400-67753200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr12:67751400-67753800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:67751400-67753800	Enhancers	NHDF-Ad	bronchial
31	chr12:67751600-67752800	Weak transcription	Fetal Kidney	kidney
32	chr12:67751600-67752800	Enhancers	Left Ventricle	heart
33	chr12:67751800-67752600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr12:67751800-67752800	Enhancers	Fetal Muscle Trunk	muscle
35	chr12:67752000-67752400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr12:67752000-67753200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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