Variant report

Variant	rs7682296
Chromosome Location	chr4:79186257-79186258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs17003090	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17003105	0.85[AMR][1000 genomes]
rs17003106	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003107	0.85[AMR][1000 genomes]
rs17003109	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs41391850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55714031	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55895609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56323989	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57591252	0.85[AMR][1000 genomes]
rs58723665	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59429199	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61150533	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61476761	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6812049	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6821829	0.85[AMR][1000 genomes]
rs6822437	0.85[AMR][1000 genomes]
rs6834011	0.86[AFR][1000 genomes]
rs6838026	0.85[AMR][1000 genomes]
rs6855248	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs728200	0.85[AMR][1000 genomes]
rs73827911	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827916	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827918	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827923	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827925	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827930	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827931	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827932	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827946	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827948	0.85[AMR][1000 genomes]
rs7667557	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7676910	0.83[AMR][1000 genomes]
rs7688218	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7690232	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7699637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv818246	chr4:79184338-79221851	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79169200-79187400	Weak transcription	HSMMtube	muscle
2	chr4:79169600-79187800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:79169800-79197400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:79169800-79213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:79173800-79187000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:79173800-79187400	Weak transcription	Fetal Stomach	stomach
7	chr4:79174600-79197400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:79174800-79214400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:79175000-79187600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:79175000-79188000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:79176400-79191000	Weak transcription	Psoas Muscle	Psoas
12	chr4:79176600-79186600	Weak transcription	Fetal Intestine Small	intestine
13	chr4:79176600-79187200	Weak transcription	Left Ventricle	heart
14	chr4:79176600-79189200	Weak transcription	Fetal Heart	heart
15	chr4:79177600-79187400	Weak transcription	Pancreas	Pancrea
16	chr4:79182400-79189600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:79183400-79187200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:79184600-79186800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:79185600-79192400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:79185800-79187200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:79185800-79187800	Strong transcription	Fetal Kidney	kidney
22	chr4:79185800-79190200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:79186000-79186600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:79186000-79186600	Enhancers	Fetal Lung	lung
25	chr4:79186000-79186800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:79186000-79187600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr4:79186000-79192000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:79186200-79186400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:79186200-79187200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:79186200-79187600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr4:79186200-79187600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr4:79186200-79187800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:79186200-79188000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:79186200-79189000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:79186200-79189000	Strong transcription	Fetal Intestine Large	intestine
36	chr4:79186200-79189600	Strong transcription	HepG2	liver

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