Variant report

Variant	rs11721837
Chromosome Location	chr4:79244971-79244972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11721839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11722992	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11724700	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11726717	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11727404	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1351845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1351846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17457087	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2061063	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs345523	0.91[EUR][1000 genomes]
rs345535	0.86[EUR][1000 genomes]
rs55728531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58087494	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59210732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59389694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59810825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6820805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6823481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6838168	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72657053	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72657054	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72657056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7656172	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7671142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7676704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79220400-79246600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:79220400-79246600	Weak transcription	HMEC	breast
3	chr4:79221200-79263000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:79229800-79257600	Weak transcription	Fetal Stomach	stomach
5	chr4:79230200-79268600	Weak transcription	Pancreas	Pancrea
6	chr4:79230600-79258000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:79231600-79260400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:79235800-79246600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:79236000-79249200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:79237800-79246200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:79237800-79252800	Weak transcription	Fetal Kidney	kidney
12	chr4:79238000-79263200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:79238600-79246200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:79238600-79246600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:79240400-79246600	Weak transcription	Fetal Heart	heart
16	chr4:79240400-79263000	Weak transcription	Psoas Muscle	Psoas
17	chr4:79240600-79252400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:79241000-79246200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:79241200-79250200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:79241400-79252600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:79241600-79246200	Weak transcription	Fetal Intestine Large	intestine
22	chr4:79241600-79246200	Weak transcription	Fetal Intestine Small	intestine
23	chr4:79241600-79246600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:79241600-79252400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr4:79241600-79252400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:79241600-79257600	Weak transcription	Left Ventricle	heart
27	chr4:79241800-79246000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:79241800-79246600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:79241800-79256400	Weak transcription	HepG2	liver
30	chr4:79242000-79246200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:79242600-79245400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:79243800-79247800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:79244400-79245000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:79244800-79245000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:79244800-79245000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr4:79244800-79245000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:79244800-79245000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links