Variant report

Variant	rs6697510
Chromosome Location	chr1:224810687-224810688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10799588	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10799589	0.92[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10916653	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564263	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs1353837	0.82[EUR][1000 genomes]
rs1499292	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566386	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566387	1.00[CEU][hapmap]
rs1566388	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1932991	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2405315	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2405317	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4654057	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4654058	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs4654060	0.92[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658957	0.84[EUR][1000 genomes]
rs6665204	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690184	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs7516323	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529774	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7532595	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs883115	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs904505	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs969026	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224805800-224812200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:224806000-224811800	Weak transcription	Spleen	Spleen
3	chr1:224806600-224812800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:224806600-224813600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:224808800-224812400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:224809400-224815800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:224809800-224812800	Enhancers	HMEC	breast
8	chr1:224810000-224810800	Enhancers	Stomach Mucosa	stomach
9	chr1:224810000-224812000	Enhancers	NHDF-Ad	bronchial
10	chr1:224810000-224812800	Enhancers	Fetal Intestine Large	intestine
11	chr1:224810200-224811000	Enhancers	Dnd41	blood
12	chr1:224810200-224811800	Enhancers	Fetal Intestine Small	intestine
13	chr1:224810200-224812000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:224810200-224812000	Enhancers	NHLF	lung
15	chr1:224810400-224810800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr1:224810400-224811000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr1:224810400-224811400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:224810400-224811800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:224810400-224811800	Enhancers	Duodenum Mucosa	Duodenum
20	chr1:224810400-224812000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:224810400-224812400	Enhancers	Gastric	stomach
22	chr1:224810400-224812400	Enhancers	HUVEC	blood vessel
23	chr1:224810400-224813000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:224810400-224813000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:224810400-224813600	Enhancers	Pancreas	Pancrea
26	chr1:224810400-224814600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:224810400-224819800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:224810600-224810800	Enhancers	Small Intestine	intestine
29	chr1:224810600-224811400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:224810600-224811600	Flanking Active TSS	NH-A	brain
31	chr1:224810600-224811800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:224810600-224812000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr1:224810600-224812000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr1:224810600-224812400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:224810600-224812600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:224810600-224812800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr1:224810600-224812800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:224810600-224813000	Enhancers	Primary hematopoietic stem cells	blood
39	chr1:224810600-224813000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:224810600-224813600	Enhancers	Fetal Thymus	thymus
41	chr1:224810600-224814600	Enhancers	HSMM	muscle
42	chr1:224810600-224814800	Enhancers	Fetal Brain Male	brain
43	chr1:224810600-224814800	Enhancers	Osteobl	bone

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