Variant report

Variant	rs9995258
Chromosome Location	chr4:79406854-79406855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79393968..79396466-chr4:79406129..79407924,2	K562	blood:
2	chr4:79394966..79397409-chr4:79405823..79407629,2	K562	blood:
3	chr4:79400879..79403380-chr4:79405475..79407306,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10017266	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17003170	1.00[EUR][1000 genomes]
rs17003229	1.00[EUR][1000 genomes]
rs2029915	1.00[EUR][1000 genomes]
rs28633620	1.00[EUR][1000 genomes]
rs56763193	0.90[AFR][1000 genomes]
rs57225312	0.83[AFR][1000 genomes]
rs58042130	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59067988	0.83[AFR][1000 genomes]
rs61161063	0.83[AFR][1000 genomes]
rs6816761	0.83[AFR][1000 genomes]
rs72659029	0.86[AFR][1000 genomes]
rs72867937	1.00[EUR][1000 genomes]
rs7660641	0.83[AFR][1000 genomes]
rs7682977	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 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	chr4:79343200-79431800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:79363200-79409800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:79363400-79455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:79363800-79464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:79366200-79408200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:79376200-79411600	Weak transcription	Fetal Stomach	stomach
7	chr4:79378600-79455800	Weak transcription	Right Ventricle	heart
8	chr4:79385000-79467400	Weak transcription	Fetal Brain Male	brain
9	chr4:79393800-79467200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:79396800-79410000	Weak transcription	Pancreas	Pancrea
11	chr4:79398000-79409400	Weak transcription	Fetal Lung	lung
12	chr4:79399200-79409800	Weak transcription	Aorta	Aorta
13	chr4:79399200-79410000	Weak transcription	Esophagus	oesophagus
14	chr4:79399400-79409800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:79401000-79467200	Weak transcription	Psoas Muscle	Psoas
16	chr4:79402000-79427600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:79402400-79409600	Weak transcription	HSMMtube	muscle
18	chr4:79403000-79407600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:79403000-79420200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:79403200-79428000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:79403200-79449800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:79403600-79409800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:79403800-79407600	Weak transcription	Left Ventricle	heart
24	chr4:79403800-79409800	Weak transcription	Fetal Kidney	kidney
25	chr4:79403800-79411000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:79403800-79428000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:79404000-79409800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:79404000-79427200	Weak transcription	Fetal Intestine Small	intestine
29	chr4:79404200-79450200	Weak transcription	HMEC	breast
30	chr4:79404400-79431800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:79404600-79409800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:79405000-79407400	Enhancers	K562	blood
33	chr4:79405000-79410000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:79405400-79407000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:79405400-79407400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:79405400-79408200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:79405600-79408000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:79406000-79408000	Weak transcription	NHDF-Ad	bronchial
39	chr4:79406000-79409800	Weak transcription	HepG2	liver
40	chr4:79406200-79416400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:79406400-79409600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:79406800-79407200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:79406800-79407200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:79406800-79407400	Flanking Active TSS	Fetal Heart	heart
45	chr4:79406800-79407400	Enhancers	Fetal Intestine Large	intestine

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