Variant report

Variant	rs968975
Chromosome Location	chr8:58429851-58429852
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10095632	0.87[AMR][1000 genomes]
rs11775104	0.83[AMR][1000 genomes]
rs1376400	0.87[AMR][1000 genomes]
rs1451130	0.86[AMR][1000 genomes]
rs1451131	0.88[AMR][1000 genomes]
rs66460469	0.85[AMR][1000 genomes]
rs6984335	0.87[AMR][1000 genomes]
rs6987326	0.82[AMR][1000 genomes]
rs6998492	0.86[AMR][1000 genomes]
rs7814634	0.86[AMR][1000 genomes]
rs7821074	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv890936	chr8:58266339-58564501	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv524390	chr8:58305969-58572471	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv518178	chr8:58328635-58542880	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv831322	chr8:58389416-58551242	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1015600	chr8:58400271-58548970	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1018174	chr8:58404809-58548970	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1032984	chr8:58406263-58548970	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1018076	chr8:58408947-58548970	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58426000-58431200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:58426200-58432600	Weak transcription	A549	lung
3	chr8:58426400-58431400	Weak transcription	Osteobl	bone
4	chr8:58426400-58431800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:58427000-58431200	Weak transcription	HSMMtube	muscle
6	chr8:58427000-58431600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:58427000-58431800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:58427000-58432800	Weak transcription	NHLF	lung
9	chr8:58427000-58433000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:58427400-58431200	Weak transcription	NH-A	brain
11	chr8:58427400-58432400	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:58428400-58431600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:58429200-58430000	Enhancers	NHDF-Ad	bronchial
14	chr8:58429400-58430000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:58429400-58430000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:58429400-58430400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:58429800-58430600	Weak transcription	HSMM	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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