Variant report

Variant	rs10180873
Chromosome Location	chr2:205530817-205530818
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205529750..205532118-chr2:205534862..205537646,2	MCF-7	breast:
2	chr2:205528626..205531544-chr2:205538166..205540869,3	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1016338	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10186433	0.80[EUR][1000 genomes]
rs1019356	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1019357	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10205296	0.83[EUR][1000 genomes]
rs11677461	0.83[EUR][1000 genomes]
rs11688854	0.84[EUR][1000 genomes]
rs11691772	0.83[EUR][1000 genomes]
rs11693425	0.83[EUR][1000 genomes]
rs11893764	0.82[EUR][1000 genomes]
rs11899398	0.81[EUR][1000 genomes]
rs12694008	0.84[EUR][1000 genomes]
rs12694009	0.84[EUR][1000 genomes]
rs12694010	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16836537	0.84[EUR][1000 genomes]
rs1861763	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2032691	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2052348	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2080601	0.83[EUR][1000 genomes]
rs2098461	0.83[EUR][1000 genomes]
rs2111446	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2160689	0.83[EUR][1000 genomes]
rs2160690	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2216321	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2335632	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2335633	0.84[EUR][1000 genomes]
rs2335634	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4140727	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4591325	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57144931	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6435250	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6722595	0.81[EUR][1000 genomes]
rs6758329	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73059069	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7573176	0.87[EUR][1000 genomes]
rs7594540	0.85[ASN][1000 genomes]
rs7600049	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875722	chr2:205462099-205572718	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875723	chr2:205489653-205612846	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205520800-205542800	Weak transcription	Psoas Muscle	Psoas
2	chr2:205521000-205546200	Weak transcription	Aorta	Aorta
3	chr2:205527800-205531400	Enhancers	HSMM	muscle
4	chr2:205527800-205531800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:205527800-205533200	Enhancers	HSMMtube	muscle
6	chr2:205528000-205546200	Weak transcription	Pancreas	Pancrea
7	chr2:205528400-205532800	Weak transcription	Gastric	stomach
8	chr2:205528600-205531000	Enhancers	NHLF	lung
9	chr2:205528600-205531200	Enhancers	Colon Smooth Muscle	Colon
10	chr2:205528800-205531000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:205528800-205531000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:205529000-205531000	Enhancers	Osteobl	bone
13	chr2:205529000-205531400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:205529000-205531400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:205529000-205534400	Weak transcription	Stomach Mucosa	stomach
16	chr2:205529200-205531000	Enhancers	HMEC	breast
17	chr2:205529200-205531000	Enhancers	NH-A	brain
18	chr2:205529400-205531800	Enhancers	Fetal Kidney	kidney
19	chr2:205529800-205531000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:205530000-205531200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:205530000-205531200	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:205530000-205531600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:205530200-205532200	Weak transcription	Liver	Liver
24	chr2:205530200-205532800	Weak transcription	Fetal Intestine Large	intestine
25	chr2:205530200-205535000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:205530200-205535000	Weak transcription	Lung	lung
27	chr2:205530200-205535400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:205530400-205531000	Enhancers	Stomach Smooth Muscle	stomach
29	chr2:205530400-205531800	Enhancers	NHDF-Ad	bronchial
30	chr2:205530400-205532200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:205530400-205532200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:205530400-205534200	Weak transcription	Fetal Lung	lung
33	chr2:205530400-205535000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:205530400-205535000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:205530400-205535000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:205530400-205535200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:205530400-205535200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:205530400-205535400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:205530400-205535600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:205530400-205538000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:205530600-205531800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:205530600-205531800	Enhancers	A549	lung
43	chr2:205530600-205534800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:205530800-205532000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:205530800-205532200	Weak transcription	HUVEC	blood vessel
46	chr2:205530800-205535000	Weak transcription	Ovary	ovary

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