Variant report

Variant	rs4625863
Chromosome Location	chr2:189251445-189251446
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10460383	1.00[YRI][hapmap]
rs10931348	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4073660	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4494698	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4563189	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4666761	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57923102	0.87[EUR][1000 genomes]
rs6434279	1.00[YRI][hapmap]
rs73978242	0.87[EUR][1000 genomes]
rs7425417	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs7559636	1.00[YRI][hapmap]
rs7597229	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9288155	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[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	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv533786	chr2:189248503-189354495	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 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	chr2:189245200-189259800	Weak transcription	Gastric	stomach
2	chr2:189247200-189252000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:189247200-189252200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:189247600-189253400	Weak transcription	Left Ventricle	heart
5	chr2:189247600-189259800	Weak transcription	Pancreas	Pancrea
6	chr2:189247800-189251600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:189247800-189252400	Weak transcription	Stomach Mucosa	stomach
8	chr2:189247800-189259600	Weak transcription	Fetal Heart	heart
9	chr2:189248200-189251800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr2:189248200-189253800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:189248200-189254800	Weak transcription	HUVEC	blood vessel
12	chr2:189248400-189253200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:189248400-189255400	Weak transcription	Osteobl	bone
14	chr2:189248600-189251800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:189250200-189252600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:189250200-189259800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:189250200-189261000	Weak transcription	Fetal Stomach	stomach
18	chr2:189250400-189259600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:189251000-189251600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:189251000-189251600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:189251000-189252000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:189251000-189252400	Weak transcription	A549	lung
23	chr2:189251000-189253600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:189251000-189253600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:189251000-189255600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:189251000-189258200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:189251000-189259800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:189251000-189260000	Weak transcription	Fetal Intestine Small	intestine
29	chr2:189251000-189260000	Weak transcription	Lung	lung
30	chr2:189251000-189260000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:189251000-189285200	Weak transcription	Aorta	Aorta
32	chr2:189251200-189251600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:189251200-189251800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:189251200-189253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:189251200-189253400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:189251200-189254000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:189251200-189254400	Weak transcription	Ovary	ovary
38	chr2:189251200-189254800	Weak transcription	Fetal Kidney	kidney
39	chr2:189251200-189255600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:189251200-189255600	Weak transcription	Fetal Lung	lung
41	chr2:189251200-189257600	Weak transcription	Fetal Intestine Large	intestine
42	chr2:189251200-189257800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:189251200-189259800	Weak transcription	Placenta	Placenta
44	chr2:189251200-189268400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:189251200-189269000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:189251200-189269400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:189251200-189269400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:189251200-189270000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:189251200-189270200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:189251400-189254200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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