Variant report

Variant	rs2867070
Chromosome Location	chr4:79368674-79368675
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:79368560-79368710	NHDF-neo	bronchial:	n/a	n/a
2	IRF1	chr4:79368513-79368824	K562	blood:	n/a	chr4:79368542-79368551 chr4:79368680-79368697 chr4:79368684-79368695 chr4:79368685-79368696 chr4:79368686-79368700 chr4:79368685-79368699 chr4:79368685-79368698 chr4:79368674-79368691 chr4:79368685-79368698 chr4:79368685-79368698 chr4:79368683-79368697 chr4:79368678-79368698 chr4:79368682-79368699 chr4:79368686-79368696 chr4:79368682-79368696

Variant related genes	Relation type
FRAS1	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10001798	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10001918	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10018235	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10026662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1006079	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1027444	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11730871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13106736	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1484331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1484342	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484343	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496581	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496582	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496583	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496584	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17003266	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2035511	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2054721	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054722	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2627648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627650	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627651	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2627653	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2627654	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627655	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627656	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645145	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645146	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645147	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645148	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645149	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28522970	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28566963	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2867068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2903470	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34840208	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36095733	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3762844	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3899004	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4975065	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4975067	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62308116	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6816851	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs753751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674053	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7699000	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924149	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs949507	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs959539	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79320000-79400200	Weak transcription	Psoas Muscle	Psoas
2	chr4:79333200-79391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:79339000-79374200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:79339400-79373000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:79339800-79370400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:79339800-79370400	Weak transcription	Fetal Lung	lung
7	chr4:79339800-79374800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:79340000-79374200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:79341800-79372600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:79343200-79431800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:79344200-79370800	Weak transcription	Fetal Heart	heart
12	chr4:79344200-79375600	Weak transcription	Fetal Stomach	stomach
13	chr4:79348400-79378000	Weak transcription	Right Ventricle	heart
14	chr4:79354000-79391000	Weak transcription	Left Ventricle	heart
15	chr4:79354000-79401600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:79354200-79391000	Weak transcription	Fetal Kidney	kidney
17	chr4:79354400-79385200	Weak transcription	Pancreas	Pancrea
18	chr4:79354800-79369200	Weak transcription	Fetal Intestine Large	intestine
19	chr4:79358800-79375400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:79359800-79382800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:79360000-79370400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:79361400-79376600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:79362400-79378000	Weak transcription	HSMMtube	muscle
24	chr4:79362600-79373200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:79363200-79409800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:79363400-79369200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:79363400-79375800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:79363400-79455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:79363800-79464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:79364600-79374800	Weak transcription	Fetal Intestine Small	intestine
31	chr4:79365600-79369200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:79365600-79406400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:79365800-79388200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:79366200-79408200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:79366400-79375400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:79366600-79382800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:79366800-79382200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr4:79367200-79385400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:79368000-79369200	Weak transcription	HepG2	liver
40	chr4:79368000-79385600	Weak transcription	Aorta	Aorta
41	chr4:79368600-79369000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:79368600-79369000	Enhancers	Brain Hippocampus Middle	brain
43	chr4:79368600-79369200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:79368600-79369400	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links