Variant report

Variant	rs12124566
Chromosome Location	chr1:97830899-97830900
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1000391	1.00[TSI][hapmap]
rs10783061	0.91[LWK][hapmap];0.93[MKK][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes]
rs10875074	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165851	0.91[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1607778	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4949950	0.86[YRI][hapmap];0.83[AMR][1000 genomes]
rs6593647	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6685658	1.00[MEX][hapmap]
rs6700063	0.92[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7414298	1.00[MEX][hapmap]
rs7512345	0.83[AMR][1000 genomes]
rs7521567	0.85[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97794600-97848200	Weak transcription	Left Ventricle	heart
2	chr1:97802200-97848600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:97803200-97843200	Weak transcription	Spleen	Spleen
4	chr1:97805800-97846800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:97816000-97843200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:97818000-97844200	Weak transcription	Osteobl	bone
7	chr1:97820200-97848200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:97822800-97831400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:97823800-97832000	Weak transcription	Fetal Lung	lung
10	chr1:97823800-97845600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:97824000-97832000	Weak transcription	Primary B cells from cord blood	blood
12	chr1:97824000-97836800	Weak transcription	Adipose Nuclei	Adipose
13	chr1:97824000-97846800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:97824200-97831400	Weak transcription	Dnd41	blood
15	chr1:97824200-97832000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:97824200-97832200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:97824200-97832200	Weak transcription	Pancreas	Pancrea
18	chr1:97824200-97837800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:97824200-97843200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:97824200-97843200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:97824200-97846800	Weak transcription	Fetal Intestine Small	intestine
22	chr1:97824200-97848000	Weak transcription	Ovary	ovary
23	chr1:97824400-97855000	Weak transcription	Lung	lung
24	chr1:97827600-97847200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:97828000-97843200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:97828800-97849800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:97829200-97851000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:97829600-97831000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:97829600-97831000	Enhancers	NHDF-Ad	bronchial
30	chr1:97829600-97836000	Strong transcription	Primary T cells from cord blood	blood
31	chr1:97829800-97831000	Enhancers	NHEK	skin
32	chr1:97829800-97834200	Strong transcription	Liver	Liver
33	chr1:97829800-97845000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:97830000-97831000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:97830000-97831000	Enhancers	NH-A	brain
36	chr1:97830000-97831400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:97830000-97832600	Weak transcription	NHLF	lung
38	chr1:97830000-97834400	Enhancers	HMEC	breast
39	chr1:97830200-97831000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:97830200-97839600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr1:97830400-97831000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:97830400-97831000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:97830400-97848400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr1:97830600-97831000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:97830600-97845000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:97830800-97831000	Enhancers	HSMM	muscle
47	chr1:97830800-97843200	Weak transcription	Muscle Satellite Cultured Cells	--

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