Variant report

Variant	rs13030924
Chromosome Location	chr2:189250169-189250170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12988577	0.80[AMR][1000 genomes];0.89[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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189245200-189259800	Weak transcription	Gastric	stomach
2	chr2:189246800-189250800	Weak transcription	Fetal Kidney	kidney
3	chr2:189247000-189251000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:189247200-189250600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:189247200-189250600	Weak transcription	Psoas Muscle	Psoas
6	chr2:189247200-189252000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:189247200-189252200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:189247400-189250600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:189247600-189251000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr2:189247600-189251200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr2:189247600-189253400	Weak transcription	Left Ventricle	heart
12	chr2:189247600-189259800	Weak transcription	Pancreas	Pancrea
13	chr2:189247800-189251000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr2:189247800-189251600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:189247800-189252400	Weak transcription	Stomach Mucosa	stomach
16	chr2:189247800-189259600	Weak transcription	Fetal Heart	heart
17	chr2:189248000-189251000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr2:189248200-189251800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr2:189248200-189253800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:189248200-189254800	Weak transcription	HUVEC	blood vessel
21	chr2:189248400-189250200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:189248400-189250400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:189248400-189250400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:189248400-189250600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:189248400-189251200	Weak transcription	NHLF	lung
26	chr2:189248400-189251400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:189248400-189253200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:189248400-189255400	Weak transcription	Osteobl	bone
29	chr2:189248600-189251800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:189248800-189251000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:189248800-189251000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
32	chr2:189248800-189251200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr2:189248800-189251200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:189248800-189251200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
35	chr2:189248800-189251200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:189248800-189251200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:189248800-189251200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
38	chr2:189248800-189251200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:189249000-189250600	Strong transcription	Fetal Lung	lung
40	chr2:189249000-189251000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
41	chr2:189249000-189251000	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr2:189249000-189251200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:189249000-189251200	Strong transcription	Fetal Intestine Large	intestine
44	chr2:189249000-189251400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:189249200-189251200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:189249400-189250200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:189249400-189250200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
48	chr2:189249400-189250400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:189249400-189250600	Strong transcription	Aorta	Aorta
50	chr2:189249400-189250800	Strong transcription	A549	lung

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