Variant report

Variant	rs11944743
Chromosome Location	chr4:79339854-79339855
allele	A/G
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	POLR2A	chr4:79339715-79339962	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
FRAS1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10049667	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721591	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11723383	0.80[CEU][hapmap]
rs11727906	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727944	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729789	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733912	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11939626	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11941464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484332	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484336	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17460595	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1872268	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34304637	1.00[ASN][1000 genomes]
rs55649620	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73831311	1.00[ASN][1000 genomes]
rs7669730	1.00[ASN][1000 genomes]
rs951900	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79284600-79353600	Weak transcription	Left Ventricle	heart
2	chr4:79302400-79353800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:79318800-79353600	Weak transcription	Pancreas	Pancrea
4	chr4:79320000-79400200	Weak transcription	Psoas Muscle	Psoas
5	chr4:79323200-79340400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:79327000-79342600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:79327400-79343600	Weak transcription	Esophagus	oesophagus
8	chr4:79329000-79362000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:79331400-79347600	Weak transcription	Stomach Mucosa	stomach
10	chr4:79332200-79353800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:79332600-79362000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:79333200-79391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:79333400-79346600	Strong transcription	HepG2	liver
14	chr4:79334000-79347200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:79334400-79342800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:79335000-79355600	Weak transcription	Fetal Brain Male	brain
17	chr4:79335600-79340400	Weak transcription	Fetal Heart	heart
18	chr4:79335600-79341400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:79336200-79343000	Weak transcription	Fetal Intestine Small	intestine
20	chr4:79336800-79343000	Weak transcription	Fetal Intestine Large	intestine
21	chr4:79337000-79342800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:79337600-79340400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:79337800-79340000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:79338000-79340000	Enhancers	NHEK	skin
25	chr4:79338000-79340200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:79338000-79347200	Weak transcription	Brain Anterior Caudate	brain
27	chr4:79338600-79340000	Enhancers	Placenta	Placenta
28	chr4:79338800-79340000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:79339000-79340400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:79339000-79374200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:79339200-79340000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
32	chr4:79339200-79345800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:79339200-79347600	Weak transcription	A549	lung
34	chr4:79339200-79354200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr4:79339400-79373000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:79339600-79340000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:79339600-79340400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:79339600-79343000	Weak transcription	Fetal Stomach	stomach
39	chr4:79339600-79344800	Weak transcription	Fetal Kidney	kidney
40	chr4:79339600-79354400	Weak transcription	HSMMtube	muscle
41	chr4:79339600-79360600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:79339600-79360600	Weak transcription	HMEC	breast
43	chr4:79339800-79340000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr4:79339800-79340400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:79339800-79340400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr4:79339800-79346600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr4:79339800-79353800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:79339800-79370400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:79339800-79370400	Weak transcription	Fetal Lung	lung
50	chr4:79339800-79374800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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