Variant report

Variant	rs10050875
Chromosome Location	chr5:167804539-167804540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10051004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10052800	1.00[AMR][1000 genomes]
rs10064050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10065566	1.00[AMR][1000 genomes]
rs10072769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57038345	1.00[AMR][1000 genomes]
rs57509071	1.00[AMR][1000 genomes]
rs60286732	1.00[AMR][1000 genomes]
rs73383505	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023985	chr5:167756193-168285807	Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv537941	chr5:167756193-168285807	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3444818	chr5:167770667-167902204	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 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	chr5:167793200-167812000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:167793200-167812200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:167793400-167814000	Weak transcription	HepG2	liver
4	chr5:167793600-167812200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:167793600-167814600	Weak transcription	Hela-S3	cervix
6	chr5:167793600-167826600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:167796200-167812000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:167796200-167812200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:167797200-167812000	Weak transcription	Fetal Stomach	stomach
10	chr5:167798200-167811800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:167798600-167811800	Weak transcription	Fetal Intestine Large	intestine
12	chr5:167798600-167811800	Weak transcription	Fetal Intestine Small	intestine
13	chr5:167798600-167812000	Weak transcription	NHEK	skin
14	chr5:167798600-167812200	Weak transcription	Lung	lung
15	chr5:167799200-167812200	Weak transcription	Gastric	stomach
16	chr5:167799400-167812200	Weak transcription	Esophagus	oesophagus
17	chr5:167799600-167812000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:167800000-167812000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:167800200-167809800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:167800400-167811400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:167800400-167812200	Weak transcription	Placenta	Placenta
22	chr5:167800600-167817400	Weak transcription	Fetal Brain Male	brain
23	chr5:167801800-167812200	Weak transcription	Pancreas	Pancrea
24	chr5:167802000-167812200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:167802400-167807600	Weak transcription	A549	lung
26	chr5:167802400-167811800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:167802400-167812000	Weak transcription	Liver	Liver
28	chr5:167803000-167811800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:167803400-167812200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:167803600-167804600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr5:167803600-167805200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:167803800-167805400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:167804000-167805000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:167804400-167804600	Enhancers	Dnd41	blood
35	chr5:167804400-167809600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:167804400-167809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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