Variant report

Variant	rs35578087
Chromosome Location	chr5:40988949-40988950
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40987621..40990606-chr5:40992275..40995928,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12659224	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12659442	0.94[EUR][1000 genomes]
rs1376174	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35986091	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv880339	chr5:40986084-41034181	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40931200-40992200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:40931800-40991000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:40960400-40989600	Weak transcription	Left Ventricle	heart
4	chr5:40968200-40990400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:40979400-40991000	Weak transcription	Fetal Kidney	kidney
6	chr5:40982000-40991800	Weak transcription	Spleen	Spleen
7	chr5:40984200-40990400	Weak transcription	Ovary	ovary
8	chr5:40985000-40989000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:40985000-40990400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:40985600-40990400	Weak transcription	Osteobl	bone
11	chr5:40987400-40990400	Weak transcription	Fetal Lung	lung
12	chr5:40988600-40989800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:40988600-40991000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:40988800-40989000	Enhancers	Lung	lung
15	chr5:40988800-40989200	Enhancers	NH-A	brain
16	chr5:40988800-40989400	Active TSS	Liver	Liver
17	chr5:40988800-40989800	Enhancers	NHEK	skin
18	chr5:40988800-40990000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:40988800-40990000	Enhancers	HMEC	breast
20	chr5:40988800-40992400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:40988800-40993400	Enhancers	HepG2	liver

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