Variant report

Variant	rs7681247
Chromosome Location	chr4:79199111-79199112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10008653	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10010118	0.84[EUR][1000 genomes]
rs1017649	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10461146	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11730296	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11736213	0.84[EUR][1000 genomes]
rs12500443	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12501798	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12502139	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12502685	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12504081	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12506036	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12511360	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12511808	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12511889	0.88[AMR][1000 genomes]
rs13107378	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13108102	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13114110	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13117388	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13136648	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13138795	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1378239	0.84[EUR][1000 genomes]
rs1454892	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1454898	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1454899	0.80[EUR][1000 genomes]
rs1484344	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17455826	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1840391	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1840392	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2008786	0.84[EUR][1000 genomes]
rs2124143	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2124144	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2198635	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28737438	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34321445	0.88[ASN][1000 genomes]
rs34535077	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34595864	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34643532	0.81[AMR][1000 genomes]
rs35290872	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35291597	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35419939	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35683023	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35828300	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41537644	0.81[AMR][1000 genomes]
rs4859524	0.84[ASN][1000 genomes]
rs4859923	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4859924	0.87[EUR][1000 genomes]
rs58101131	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62309861	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62310017	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62310021	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62310023	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62310045	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6533565	0.84[EUR][1000 genomes]
rs6533571	0.88[EUR][1000 genomes]
rs6815945	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6854043	0.84[EUR][1000 genomes]
rs6854207	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6856362	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72657047	0.91[ASN][1000 genomes]
rs7656032	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7686297	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696792	0.87[EUR][1000 genomes]
rs943821	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs943822	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9762380	0.84[EUR][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	chr4:79169800-79213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:79174800-79214400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:79187600-79214800	Weak transcription	Left Ventricle	heart
4	chr4:79187800-79210400	Weak transcription	Fetal Kidney	kidney
5	chr4:79188000-79209400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:79188600-79200200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:79188600-79218400	Weak transcription	Aorta	Aorta
8	chr4:79188800-79201000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:79189400-79207400	Weak transcription	Fetal Lung	lung
10	chr4:79189600-79199400	Weak transcription	HepG2	liver
11	chr4:79191400-79213600	Weak transcription	Psoas Muscle	Psoas
12	chr4:79192200-79213800	Weak transcription	Fetal Heart	heart
13	chr4:79197400-79201600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:79198200-79214000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:79198400-79212400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:79198600-79199400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:79198600-79199600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:79198600-79199600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:79198600-79201200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:79198600-79201800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:79198600-79202600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:79198600-79206200	Weak transcription	Fetal Intestine Small	intestine
23	chr4:79198600-79207000	Weak transcription	Fetal Intestine Large	intestine
24	chr4:79198600-79207600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:79198600-79207600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:79198600-79215600	Weak transcription	Esophagus	oesophagus
27	chr4:79198600-79217600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:79198600-79220200	Weak transcription	Pancreas	Pancrea
29	chr4:79198600-79221000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:79198600-79241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:79198800-79199200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:79198800-79199400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:79198800-79201800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:79198800-79202600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:79198800-79213800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:79199000-79201400	Strong transcription	H1 Cell Line	embryonic stem cell

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