Variant report

Variant	rs2276583
Chromosome Location	chr2:128014684-128014685
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128014397..128016921-chr2:128019459..128021015,2	K562	blood:
2	chr2:128013491..128017677-chr2:128048159..128051668,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163161	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10209678	0.93[ASN][1000 genomes]
rs10803585	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10928761	0.89[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11886231	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11890187	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11901355	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12052483	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12463451	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12465955	0.97[ASN][1000 genomes]
rs12477214	0.82[ASN][1000 genomes]
rs12479003	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12622436	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12623948	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12692064	0.93[ASN][1000 genomes]
rs12989081	0.83[ASN][1000 genomes]
rs12989154	0.85[ASN][1000 genomes]
rs12991768	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13029237	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1566823	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17015199	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1850689	0.83[ASN][1000 genomes]
rs2090574	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2174270	0.97[ASN][1000 genomes]
rs2896980	0.84[ASN][1000 genomes]
rs3088374	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs34832797	0.85[ASN][1000 genomes]
rs35293119	0.83[ASN][1000 genomes]
rs35328149	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3768866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4150407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4150441	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4150454	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4150477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4150495	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4150496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4233583	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4233584	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4497825	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4662575	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4662578	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4662580	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4662711	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4662712	0.83[ASN][1000 genomes]
rs4662717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4662722	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4662725	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55905117	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs55998967	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58475809	0.94[ASN][1000 genomes]
rs59566504	0.86[ASN][1000 genomes]
rs62157549	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62157555	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62160261	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6430935	0.96[ASN][1000 genomes]
rs6712213	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6712446	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6712551	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6731176	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs6732279	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6761447	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71414745	0.89[ASN][1000 genomes]
rs7568261	0.85[ASN][1000 genomes]
rs7580658	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7589451	0.84[ASN][1000 genomes]
rs867304	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9636237	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9789510	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][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	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128002400-128015800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:128003000-128016400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:128005000-128016400	Weak transcription	Fetal Kidney	kidney
4	chr2:128005400-128016200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:128007600-128015800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:128011800-128015800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:128011800-128017200	Weak transcription	Small Intestine	intestine
8	chr2:128012400-128015600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:128012400-128016800	Weak transcription	NHDF-Ad	bronchial
10	chr2:128012400-128028000	Weak transcription	Hela-S3	cervix
11	chr2:128012600-128015800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:128012600-128026200	Weak transcription	Stomach Mucosa	stomach
13	chr2:128012800-128014800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:128012800-128014800	Weak transcription	Fetal Brain Male	brain
15	chr2:128012800-128016800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:128012800-128019600	Strong transcription	GM12878-XiMat	blood
17	chr2:128012800-128020800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:128013000-128015400	Strong transcription	Pancreas	Pancrea
19	chr2:128013000-128020200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:128013000-128020600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:128013000-128020600	Strong transcription	Fetal Brain Female	brain
22	chr2:128013000-128020600	Strong transcription	Dnd41	blood
23	chr2:128013000-128020800	Strong transcription	Fetal Intestine Large	intestine
24	chr2:128013000-128021200	Strong transcription	Primary T cells from cord blood	blood
25	chr2:128013000-128021800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr2:128013200-128016000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:128013200-128016000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:128013200-128016000	Weak transcription	Brain Substantia Nigra	brain
29	chr2:128013200-128016000	Weak transcription	K562	blood
30	chr2:128013200-128018400	Weak transcription	Psoas Muscle	Psoas
31	chr2:128013200-128019000	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr2:128013200-128019000	Strong transcription	Ovary	ovary
33	chr2:128013200-128020400	Strong transcription	HepG2	liver
34	chr2:128013200-128020600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:128013200-128020800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr2:128013400-128017000	Strong transcription	Esophagus	oesophagus
37	chr2:128013400-128018800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:128013400-128018800	Strong transcription	Gastric	stomach
39	chr2:128013400-128018800	Strong transcription	Right Ventricle	heart
40	chr2:128013400-128018800	Strong transcription	Spleen	Spleen
41	chr2:128013400-128019000	Strong transcription	Adipose Nuclei	Adipose
42	chr2:128013400-128019000	Strong transcription	Aorta	Aorta
43	chr2:128013400-128019000	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:128013400-128019200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:128013400-128019400	Strong transcription	Fetal Stomach	stomach
46	chr2:128013400-128019600	Strong transcription	Placenta	Placenta
47	chr2:128013400-128020000	Strong transcription	Lung	lung
48	chr2:128013400-128020200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:128013400-128020200	Strong transcription	Fetal Intestine Small	intestine
50	chr2:128013400-128020200	Strong transcription	Thymus	Thymus

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