Variant report

Variant	rs1530149
Chromosome Location	chr2:127455171-127455172
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	chr2:127440013..127442980-chr2:127454337..127456567,2	K562	blood:
2	chr2:127453953..127456073-chr2:127458939..127461273,3	K562	blood:

Variant related genes	Relation type
ENSG00000206963	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10174393	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10191577	0.93[CHB][hapmap];0.88[ASN][1000 genomes]
rs1050967	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12617050	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1964424	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1968539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2165227	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2176428	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2176429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2280238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2280239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2280240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3791345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs382844	0.80[CHB][hapmap];0.95[YRI][hapmap]
rs56224235	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6431172	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6709803	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6713909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6732145	0.95[CEU][hapmap];0.93[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71393823	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs893801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs935022	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs935024	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs938733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv583014	chr2:127450911-127455669	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv583015	chr2:127453301-127455404	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:127435200-127457400	Weak transcription	Fetal Kidney	kidney
3	chr2:127439800-127457600	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:127442000-127456800	Weak transcription	Osteobl	bone
5	chr2:127443600-127458800	Strong transcription	Primary T cells from cord blood	blood
6	chr2:127444000-127456400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:127444000-127458200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:127445200-127456000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:127445400-127456400	Strong transcription	Stomach Smooth Muscle	stomach
10	chr2:127446400-127456200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr2:127446400-127456200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:127446600-127456600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:127446800-127458200	Weak transcription	NHDF-Ad	bronchial
14	chr2:127447400-127455800	Strong transcription	Ovary	ovary
15	chr2:127447400-127456200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:127447400-127457000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:127447600-127456000	Strong transcription	Fetal Lung	lung
18	chr2:127447600-127456200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:127447600-127456200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:127447600-127456200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:127447600-127456400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:127447600-127456800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:127448200-127456400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:127448400-127456200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:127448600-127455200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:127449000-127455800	Strong transcription	K562	blood
27	chr2:127449600-127456000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:127449800-127456600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:127450400-127456000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:127450400-127456200	Strong transcription	Aorta	Aorta
31	chr2:127450400-127456400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:127450600-127456600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:127450800-127455600	Strong transcription	Primary B cells from cord blood	blood
34	chr2:127450800-127456000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:127450800-127456600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr2:127450800-127458200	Weak transcription	Small Intestine	intestine
37	chr2:127451000-127455200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:127451000-127455200	Strong transcription	Thymus	Thymus
39	chr2:127451000-127456200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:127451000-127456200	Strong transcription	NHLF	lung
41	chr2:127451200-127455800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:127451200-127457000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:127451400-127456200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr2:127451400-127456200	Strong transcription	Adipose Nuclei	Adipose
45	chr2:127451400-127458800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:127451400-127459000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:127451600-127455200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:127451600-127456000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:127451600-127456000	Strong transcription	Fetal Stomach	stomach
50	chr2:127451600-127456200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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