Variant report

Variant	rs6732528
Chromosome Location	chr2:127456021-127456022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127440013..127442980-chr2:127454337..127456567,2	K562	blood:
2	chr2:127452820..127454923-chr2:127455408..127457651,2	K562	blood:
3	chr2:127453953..127456073-chr2:127458939..127461273,3	K562	blood:

Variant related genes	Relation type
ENSG00000206963	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10184704	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs13400354	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13410353	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13415391	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1530148	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6431173	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6431174	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6568	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7572237	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7587965	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:95 , 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	chr2:127445400-127456400	Strong transcription	Stomach Smooth Muscle	stomach
9	chr2:127446400-127456200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr2:127446400-127456200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:127446600-127456600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:127446800-127458200	Weak transcription	NHDF-Ad	bronchial
13	chr2:127447400-127456200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:127447400-127457000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:127447600-127456200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:127447600-127456200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:127447600-127456200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:127447600-127456400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:127447600-127456800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:127448200-127456400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:127448400-127456200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:127449800-127456600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:127450400-127456200	Strong transcription	Aorta	Aorta
24	chr2:127450400-127456400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:127450600-127456600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:127450800-127456600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr2:127450800-127458200	Weak transcription	Small Intestine	intestine
28	chr2:127451000-127456200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:127451000-127456200	Strong transcription	NHLF	lung
30	chr2:127451200-127457000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:127451400-127456200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:127451400-127456200	Strong transcription	Adipose Nuclei	Adipose
33	chr2:127451400-127458800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:127451400-127459000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:127451600-127456200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:127451600-127456400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:127451600-127457400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:127451600-127457400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:127451800-127456800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:127452200-127458000	Weak transcription	Brain Angular Gyrus	brain
41	chr2:127452800-127457400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:127453000-127456200	Strong transcription	Primary hematopoietic stem cells	blood
43	chr2:127453000-127456200	Strong transcription	Lung	lung
44	chr2:127453200-127456200	Genic enhancers	Left Ventricle	heart
45	chr2:127453200-127461200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:127453400-127456200	Strong transcription	Fetal Intestine Small	intestine
47	chr2:127453400-127456200	Genic enhancers	Spleen	Spleen
48	chr2:127453400-127456400	Weak transcription	Fetal Heart	heart
49	chr2:127453600-127457400	Weak transcription	Brain Germinal Matrix	brain
50	chr2:127453800-127456600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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