Variant report

Variant	rs6882309
Chromosome Location	chr5:112435686-112435687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112434757..112437431-chr5:112437818..112439557,2	K562	blood:
2	chr5:112428968..112430788-chr5:112433593..112437336,4	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10036854	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10058407	0.81[ASN][1000 genomes]
rs10077067	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10223151	0.81[ASN][1000 genomes]
rs10223152	0.81[ASN][1000 genomes]
rs11744218	0.81[ASN][1000 genomes]
rs11744817	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11744828	0.81[ASN][1000 genomes]
rs11744956	0.81[ASN][1000 genomes]
rs12513669	0.81[ASN][1000 genomes]
rs13174818	0.81[ASN][1000 genomes]
rs2227950	0.81[ASN][1000 genomes]
rs28535973	0.96[ASN][1000 genomes]
rs28620751	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4397121	0.81[ASN][1000 genomes]
rs56054154	0.81[ASN][1000 genomes]
rs6594679	0.81[ASN][1000 genomes]
rs6859562	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6859813	0.81[ASN][1000 genomes]
rs6865585	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6865804	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6866442	0.81[ASN][1000 genomes]
rs6866566	0.81[ASN][1000 genomes]
rs6866706	0.81[ASN][1000 genomes]
rs6888031	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6888485	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6898297	0.81[ASN][1000 genomes]
rs7714010	0.81[ASN][1000 genomes]
rs7714160	0.81[ASN][1000 genomes]
rs7714275	0.81[ASN][1000 genomes]
rs7714334	0.81[ASN][1000 genomes]
rs7714349	0.81[ASN][1000 genomes]
rs7714492	0.81[ASN][1000 genomes]
rs7714725	0.81[ASN][1000 genomes]
rs7728858	0.81[ASN][1000 genomes]
rs7728921	0.81[ASN][1000 genomes]
rs7734411	0.81[ASN][1000 genomes]
rs7734511	0.81[ASN][1000 genomes]
rs7736823	0.81[ASN][1000 genomes]
rs7737329	0.81[ASN][1000 genomes]
rs9326874	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1018344	chr5:112390951-112458853	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:112391600-112439000	Weak transcription	Gastric	stomach
3	chr5:112399800-112441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:112404400-112436800	Weak transcription	Fetal Brain Male	brain
5	chr5:112411200-112443400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:112417800-112436800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:112418400-112441600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:112418600-112436600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:112418600-112441400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:112419600-112436600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:112420800-112436800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:112421000-112437000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:112421000-112439000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:112421400-112437200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:112424400-112448000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:112426000-112441600	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:112426200-112437400	Weak transcription	Aorta	Aorta
18	chr5:112426200-112445000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:112426600-112453000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:112426800-112450200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:112426800-112450600	Weak transcription	Primary T cells from cord blood	blood
22	chr5:112426800-112450600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:112426800-112453800	Weak transcription	HSMMtube	muscle
24	chr5:112427000-112440800	Weak transcription	NH-A	brain
25	chr5:112427000-112453800	Weak transcription	Fetal Kidney	kidney
26	chr5:112427200-112448200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:112427600-112441600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:112427600-112442000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr5:112427600-112443200	Weak transcription	Brain Substantia Nigra	brain
30	chr5:112428000-112440200	Strong transcription	Liver	Liver
31	chr5:112428400-112440200	Strong transcription	Fetal Stomach	stomach
32	chr5:112428600-112445000	Weak transcription	Placenta	Placenta
33	chr5:112429800-112437400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:112430400-112441000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:112431000-112436800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:112431000-112439000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:112431000-112440000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:112431000-112442600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:112431200-112461600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr5:112431600-112440200	Strong transcription	Ovary	ovary
41	chr5:112432200-112437400	Weak transcription	Right Atrium	heart
42	chr5:112432200-112443200	Weak transcription	Lung	lung
43	chr5:112432200-112450200	Weak transcription	Spleen	Spleen
44	chr5:112432200-112454600	Weak transcription	Pancreas	Pancrea
45	chr5:112432400-112437800	Weak transcription	Fetal Heart	heart
46	chr5:112432800-112439000	Weak transcription	Fetal Intestine Small	intestine
47	chr5:112433400-112435800	Strong transcription	HMEC	breast
48	chr5:112433600-112439600	Strong transcription	Esophagus	oesophagus
49	chr5:112433600-112439800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:112433600-112441200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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