Variant report

Variant	rs6714788
Chromosome Location	chr2:100686173-100686174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100683259..100685948-chr2:100686167..100688772,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10209110	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10211595	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1062143	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11123804	0.91[ASN][1000 genomes]
rs11123805	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11123811	0.85[CEU][hapmap]
rs1115910	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11681737	0.96[ASN][1000 genomes]
rs11685341	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12712062	0.88[ASN][1000 genomes]
rs12712063	0.94[ASN][1000 genomes]
rs12712065	0.85[CEU][hapmap]
rs12995420	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12997584	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1370356	0.96[ASN][1000 genomes]
rs1821828	0.98[ASN][1000 genomes]
rs1821829	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2309748	0.98[ASN][1000 genomes]
rs2576678	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2871326	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6542905	0.91[ASN][1000 genomes]
rs6733895	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6749757	0.85[EUR][1000 genomes]
rs6750720	0.86[ASN][1000 genomes]
rs6754099	0.89[ASN][1000 genomes]
rs7558817	0.91[ASN][1000 genomes]
rs7582731	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599083	0.93[ASN][1000 genomes]
rs7605430	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9308833	0.96[ASN][1000 genomes]
rs961788	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100656600-100686600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:100664400-100699600	Weak transcription	Aorta	Aorta
3	chr2:100667800-100688000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:100678000-100686600	Weak transcription	Primary T cells from cord blood	blood
5	chr2:100678000-100687600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:100679600-100689600	Weak transcription	Spleen	Spleen
7	chr2:100680600-100687800	Enhancers	Dnd41	blood
8	chr2:100681200-100686400	Weak transcription	Small Intestine	intestine
9	chr2:100681600-100686400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:100681600-100686800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:100683000-100686400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:100683000-100686600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:100683000-100689000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:100683000-100698200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:100683200-100686200	Weak transcription	Fetal Brain Male	brain
16	chr2:100683200-100687000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:100683200-100687800	Strong transcription	Primary B cells from cord blood	blood
18	chr2:100683200-100687800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:100683200-100688600	Weak transcription	Fetal Brain Female	brain
20	chr2:100683200-100719600	Weak transcription	Brain Germinal Matrix	brain
21	chr2:100684400-100690600	Weak transcription	Adipose Nuclei	Adipose
22	chr2:100685000-100687400	Bivalent Enhancer	HepG2	liver
23	chr2:100685000-100688400	Weak transcription	Right Atrium	heart
24	chr2:100685200-100687800	Weak transcription	Fetal Heart	heart
25	chr2:100685400-100688000	Weak transcription	Left Ventricle	heart
26	chr2:100685400-100688600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:100685400-100689000	Weak transcription	Gastric	stomach
28	chr2:100685400-100689000	Weak transcription	Ovary	ovary
29	chr2:100685600-100686200	Enhancers	Fetal Kidney	kidney
30	chr2:100685800-100688600	Enhancers	Fetal Lung	lung
31	chr2:100686000-100686400	Weak transcription	Thymus	Thymus
32	chr2:100686000-100686800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:100686000-100686800	Flanking Active TSS	Liver	Liver
34	chr2:100686000-100687000	Weak transcription	Fetal Thymus	thymus
35	chr2:100686000-100687200	Enhancers	Fetal Intestine Large	intestine
36	chr2:100686000-100698400	Strong transcription	Primary B cells from peripheral blood	blood

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