Variant report

Variant	rs62334633
Chromosome Location	chr4:129084813-129084814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12502412	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12505002	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4834232	0.80[AMR][1000 genomes]
rs62334582	0.80[AMR][1000 genomes]
rs62334588	0.86[AMR][1000 genomes]
rs62334591	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62334615	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62334617	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62336170	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62336172	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1033701	chr4:128803159-129095018	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' 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
6	nsv595388	chr4:128853913-129084831	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv1019555	chr4:128901614-129088903	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv1792524	chr4:128983925-129133826	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv879929	chr4:129029653-129142079	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129067000-129107600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:129077200-129085000	Weak transcription	Placenta	Placenta
3	chr4:129077400-129085000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:129077400-129085000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:129077400-129088800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:129077400-129112600	Weak transcription	Left Ventricle	heart
7	chr4:129077400-129122000	Weak transcription	Aorta	Aorta
8	chr4:129077600-129094200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:129077600-129103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:129077600-129120600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:129077800-129085000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:129078000-129085800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:129078000-129103400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:129078000-129107800	Weak transcription	Fetal Intestine Small	intestine
15	chr4:129078000-129107800	Weak transcription	Fetal Stomach	stomach
16	chr4:129078000-129108000	Weak transcription	Gastric	stomach
17	chr4:129079400-129089000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:129081600-129085000	Weak transcription	NHLF	lung
19	chr4:129082000-129085200	Enhancers	HepG2	liver
20	chr4:129082000-129085600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:129082000-129085600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:129082200-129085800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:129082800-129098400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:129083200-129085200	Enhancers	HSMM	muscle
25	chr4:129083400-129085200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:129083400-129085200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:129083400-129085200	Enhancers	HSMMtube	muscle
28	chr4:129083400-129085200	Enhancers	NH-A	brain
29	chr4:129083600-129085200	Flanking Active TSS	HUVEC	blood vessel
30	chr4:129083600-129112600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:129083800-129102400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:129084000-129085200	Enhancers	NHEK	skin
33	chr4:129084200-129085200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:129084200-129085200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:129084400-129085000	Flanking Active TSS	A549	lung
36	chr4:129084400-129085200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:129084400-129085200	Enhancers	HMEC	breast
38	chr4:129084600-129085200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:129084800-129085000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:129084800-129085200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr4:129084800-129085600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:129084800-129099400	Weak transcription	Liver	Liver
43	chr4:129084800-129104000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:129084800-129107800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:129084800-129112400	Weak transcription	NHDF-Ad	bronchial

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