Variant report

Variant	rs12988087
Chromosome Location	chr2:233700977-233700978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10176930	0.92[ASN][1000 genomes]
rs10178713	0.80[AMR][1000 genomes]
rs10190211	0.80[ASN][1000 genomes]
rs10207739	0.96[ASN][1000 genomes]
rs10933407	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10933408	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11679581	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11684636	0.96[ASN][1000 genomes]
rs11685169	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11688622	0.80[AMR][1000 genomes]
rs11689661	0.96[ASN][1000 genomes]
rs11694434	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11695762	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12052869	0.80[AMR][1000 genomes]
rs12328140	0.80[AMR][1000 genomes]
rs12328151	0.80[AMR][1000 genomes]
rs12694916	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13012585	0.80[AMR][1000 genomes]
rs13383733	0.80[AMR][1000 genomes]
rs13401578	0.86[ASN][1000 genomes]
rs13408229	0.96[ASN][1000 genomes]
rs13412513	0.80[AMR][1000 genomes]
rs13425525	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13425918	0.80[AMR][1000 genomes]
rs1446307	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2289914	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2289915	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2292724	0.80[AMR][1000 genomes]
rs2293782	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2305139	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28491817	0.84[ASN][1000 genomes]
rs34063802	0.80[ASN][1000 genomes]
rs34832091	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35141217	0.80[AMR][1000 genomes]
rs35778045	0.84[ASN][1000 genomes]
rs35785837	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35928329	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs41266951	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56054779	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62193305	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73005582	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9288675	0.84[ASN][1000 genomes]
rs9288676	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9808146	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9973586	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv584697	chr2:233684097-233733352	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3444783	chr2:233700258-233702206	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
9	esv3352165	chr2:233700915-233701087	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:233667600-233726400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:233669000-233701800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:233669400-233703600	Strong transcription	Liver	Liver
5	chr2:233670000-233701600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:233670200-233702600	Strong transcription	HepG2	liver
7	chr2:233681600-233702400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:233681800-233702200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:233684400-233702400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:233687600-233702400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:233687800-233701600	Strong transcription	Fetal Thymus	thymus
12	chr2:233688000-233702400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:233688600-233701600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr2:233689000-233713000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:233689200-233726400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:233691200-233717200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:233692000-233702600	Strong transcription	Primary T cells from cord blood	blood
18	chr2:233692800-233702000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:233693000-233702000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:233693800-233701800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:233693800-233702600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:233693800-233702600	Strong transcription	Placenta	Placenta
23	chr2:233694000-233701800	Strong transcription	Primary hematopoietic stem cells	blood
24	chr2:233694200-233701600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:233694200-233702200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:233694200-233702200	Strong transcription	Primary B cells from cord blood	blood
27	chr2:233694200-233702200	Strong transcription	Fetal Lung	lung
28	chr2:233694200-233702400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:233694200-233702800	Strong transcription	Adipose Nuclei	Adipose
30	chr2:233694200-233703000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:233694200-233703000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:233694200-233703800	Strong transcription	Fetal Muscle Leg	muscle
33	chr2:233694400-233701200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:233694400-233701800	Strong transcription	GM12878-XiMat	blood
35	chr2:233694400-233702000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:233694400-233702000	Strong transcription	Ovary	ovary
37	chr2:233694400-233703200	Strong transcription	Fetal Brain Female	brain
38	chr2:233694800-233701600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:233694800-233701800	Strong transcription	Spleen	Spleen
40	chr2:233694800-233702000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:233694800-233702200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr2:233694800-233703000	Strong transcription	Thymus	Thymus
43	chr2:233695000-233701600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:233695000-233701600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:233695000-233702200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:233695000-233703200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:233695200-233702600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:233695200-233702800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:233695400-233701600	Strong transcription	Esophagus	oesophagus
50	chr2:233695400-233705600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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