Variant report

Variant	rs1607255
Chromosome Location	chr2:99543105-99543106
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12622681	0.85[CHB][hapmap];0.85[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582518	chr2:99498774-99546355	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv874697	chr2:99520608-99558970	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv834310	chr2:99533832-99709999	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv1007718	chr2:99542281-99729107	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1607255	FAHD2A	cis	cerebellum	SCAN
rs1607255	LIPT1	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99538000-99550800	Weak transcription	Gastric	stomach
2	chr2:99538400-99551400	Weak transcription	Esophagus	oesophagus
3	chr2:99542000-99543200	Active TSS	Brain Anterior Caudate	brain
4	chr2:99542000-99543200	Enhancers	HSMM	muscle
5	chr2:99542200-99543200	Enhancers	HSMMtube	muscle
6	chr2:99542600-99543400	Enhancers	NHEK	skin
7	chr2:99542600-99543800	Enhancers	HMEC	breast
8	chr2:99542800-99543200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:99542800-99543400	Enhancers	Brain Germinal Matrix	brain
10	chr2:99542800-99543600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:99542800-99543600	Enhancers	A549	lung
12	chr2:99542800-99543600	Enhancers	NH-A	brain
13	chr2:99542800-99543600	Enhancers	Osteobl	bone
14	chr2:99542800-99543800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:99542800-99543800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:99542800-99543800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:99542800-99543800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:99542800-99543800	Enhancers	Pancreas	Pancrea
19	chr2:99542800-99544000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:99542800-99545000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:99543000-99543400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:99543000-99544200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:99543000-99548200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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