Variant report

Variant	rs2867014
Chromosome Location	chr4:79186171-79186172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10028072	1.00[ASN][1000 genomes]
rs1017646	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1017647	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1017648	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1017650	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1017651	1.00[ASN][1000 genomes]
rs11098114	1.00[ASN][1000 genomes]
rs11098131	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11730332	0.83[AFR][1000 genomes]
rs11941234	0.95[ASN][1000 genomes]
rs13118323	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1378237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1378238	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1454894	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1454895	0.95[ASN][1000 genomes]
rs1454900	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1454901	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1580105	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17003069	0.95[ASN][1000 genomes]
rs17003070	0.95[ASN][1000 genomes]
rs17003071	0.95[ASN][1000 genomes]
rs17003092	1.00[ASN][1000 genomes]
rs17003108	1.00[ASN][1000 genomes]
rs1823921	0.95[ASN][1000 genomes]
rs1840390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1840393	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1952400	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1999053	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2008587	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2013764	1.00[ASN][1000 genomes]
rs2013770	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2045169	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2124145	1.00[ASN][1000 genomes]
rs2225198	1.00[ASN][1000 genomes]
rs28803795	0.82[ASN][1000 genomes]
rs28806931	0.82[ASN][1000 genomes]
rs345503	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs345506	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs345528	0.82[ASN][1000 genomes]
rs4269200	0.83[AFR][1000 genomes]
rs4859919	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4859921	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4859922	1.00[ASN][1000 genomes]
rs60544673	0.95[ASN][1000 genomes]
rs60608669	0.82[ASN][1000 genomes]
rs60862246	0.91[ASN][1000 genomes]
rs61283188	1.00[ASN][1000 genomes]
rs62310014	0.83[AFR][1000 genomes]
rs6533564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6814182	0.84[ASN][1000 genomes]
rs6820900	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6822551	1.00[ASN][1000 genomes]
rs6822773	0.95[ASN][1000 genomes]
rs6846166	1.00[ASN][1000 genomes]
rs6847377	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6850956	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6855457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72862191	0.95[ASN][1000 genomes]
rs72862196	0.95[ASN][1000 genomes]
rs72864511	0.91[ASN][1000 genomes]
rs72864520	1.00[ASN][1000 genomes]
rs72864521	1.00[ASN][1000 genomes]
rs72864564	1.00[ASN][1000 genomes]
rs72864567	1.00[ASN][1000 genomes]
rs72864571	1.00[ASN][1000 genomes]
rs72864577	1.00[ASN][1000 genomes]
rs72864587	1.00[ASN][1000 genomes]
rs72866312	0.82[ASN][1000 genomes]
rs7438056	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7667670	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs967635	0.82[AMR][1000 genomes];1.00[ASN][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79169200-79186200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:79169200-79187400	Weak transcription	HSMMtube	muscle
3	chr4:79169600-79187800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:79169800-79197400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:79169800-79213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:79173800-79186200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:79173800-79187000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:79173800-79187400	Weak transcription	Fetal Stomach	stomach
9	chr4:79174600-79197400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:79174800-79214400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:79175000-79187600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:79175000-79188000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:79176400-79191000	Weak transcription	Psoas Muscle	Psoas
14	chr4:79176600-79186200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:79176600-79186200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:79176600-79186200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:79176600-79186200	Weak transcription	Fetal Intestine Large	intestine
18	chr4:79176600-79186600	Weak transcription	Fetal Intestine Small	intestine
19	chr4:79176600-79187200	Weak transcription	Left Ventricle	heart
20	chr4:79176600-79189200	Weak transcription	Fetal Heart	heart
21	chr4:79177600-79187400	Weak transcription	Pancreas	Pancrea
22	chr4:79177800-79186200	Weak transcription	HepG2	liver
23	chr4:79182400-79189600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:79183400-79187200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:79184000-79186200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:79184600-79186800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:79185200-79186200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr4:79185600-79192400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:79185800-79187200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:79185800-79187800	Strong transcription	Fetal Kidney	kidney
31	chr4:79185800-79190200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr4:79186000-79186200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr4:79186000-79186600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:79186000-79186600	Enhancers	Fetal Lung	lung
35	chr4:79186000-79186800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:79186000-79187600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr4:79186000-79192000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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