Variant report

Variant	rs73070519
Chromosome Location	chr1:185759242-185759243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185755489..185757361-chr1:185758549..185760454,2	MCF-7	breast:
2	chr1:185702948..185704971-chr1:185758982..185760508,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143341	Chromatin interaction

Extended variants
information (count: 151 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs10047250	1.00[ASN][1000 genomes]
rs10449224	1.00[ASN][1000 genomes]
rs10465497	1.00[ASN][1000 genomes]
rs10465500	1.00[ASN][1000 genomes]
rs10489714	1.00[ASN][1000 genomes]
rs10489715	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10489716	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489717	1.00[ASN][1000 genomes]
rs10911785	1.00[ASN][1000 genomes]
rs10911789	1.00[ASN][1000 genomes]
rs10911790	1.00[ASN][1000 genomes]
rs11800990	1.00[ASN][1000 genomes]
rs12079734	1.00[EUR][1000 genomes]
rs12095309	1.00[ASN][1000 genomes]
rs12097100	1.00[EUR][1000 genomes]
rs1321671	1.00[ASN][1000 genomes]
rs1407428	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555494	1.00[ASN][1000 genomes]
rs16824455	1.00[EUR][1000 genomes]
rs16824458	1.00[EUR][1000 genomes]
rs16824465	1.00[ASN][1000 genomes]
rs16824488	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824497	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830622	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1853247	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2170858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28477118	1.00[EUR][1000 genomes]
rs28510615	1.00[EUR][1000 genomes]
rs55731570	1.00[EUR][1000 genomes]
rs55887884	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56100961	1.00[EUR][1000 genomes]
rs56331179	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56347630	1.00[EUR][1000 genomes]
rs56881574	1.00[EUR][1000 genomes]
rs57036166	1.00[EUR][1000 genomes]
rs57107751	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57162167	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57215320	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57246058	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57257586	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57646829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57782754	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58131117	1.00[ASN][1000 genomes]
rs58159343	1.00[ASN][1000 genomes]
rs58291464	1.00[ASN][1000 genomes]
rs58433773	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58437418	1.00[ASN][1000 genomes]
rs58610258	1.00[ASN][1000 genomes]
rs58610741	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59175860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59312002	1.00[ASN][1000 genomes]
rs59660733	1.00[EUR][1000 genomes]
rs59967839	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60308365	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60458315	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60735946	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61261990	1.00[ASN][1000 genomes]
rs61679640	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61689983	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425001	1.00[ASN][1000 genomes]
rs6425004	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425005	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657554	1.00[ASN][1000 genomes]
rs6657683	1.00[ASN][1000 genomes]
rs6662653	1.00[ASN][1000 genomes]
rs6671094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675465	1.00[ASN][1000 genomes]
rs6675691	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676349	1.00[EUR][1000 genomes]
rs6676522	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676629	1.00[ASN][1000 genomes]
rs6676765	1.00[ASN][1000 genomes]
rs6677183	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679816	1.00[ASN][1000 genomes]
rs6683809	1.00[ASN][1000 genomes]
rs6686816	1.00[ASN][1000 genomes]
rs6688298	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688369	1.00[ASN][1000 genomes]
rs6689228	1.00[EUR][1000 genomes]
rs6689359	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690475	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690559	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690714	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696804	1.00[ASN][1000 genomes]
rs6698721	1.00[ASN][1000 genomes]
rs6700856	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703750	1.00[EUR][1000 genomes]
rs72703022	1.00[ASN][1000 genomes]
rs72703023	1.00[ASN][1000 genomes]
rs72718868	1.00[ASN][1000 genomes]
rs72718870	1.00[ASN][1000 genomes]
rs73054403	1.00[ASN][1000 genomes]
rs73054407	1.00[ASN][1000 genomes]
rs73054432	1.00[EUR][1000 genomes]
rs73054448	1.00[EUR][1000 genomes]
rs73058401	1.00[ASN][1000 genomes]
rs73060467	1.00[ASN][1000 genomes]
rs73060474	1.00[ASN][1000 genomes]
rs73060487	1.00[EUR][1000 genomes]
rs73062155	1.00[ASN][1000 genomes]
rs73062157	1.00[ASN][1000 genomes]
rs73062161	1.00[ASN][1000 genomes]
rs73062164	1.00[ASN][1000 genomes]
rs73062166	1.00[ASN][1000 genomes]
rs73062512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73062516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73070522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73070527	1.00[EUR][1000 genomes]
rs73070547	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73070548	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73070567	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73070598	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73072012	1.00[EUR][1000 genomes]
rs73072023	1.00[EUR][1000 genomes]
rs73072049	1.00[EUR][1000 genomes]
rs73072056	1.00[ASN][1000 genomes]
rs73072063	1.00[EUR][1000 genomes]
rs73072067	1.00[EUR][1000 genomes]
rs73072077	1.00[ASN][1000 genomes]
rs74134207	1.00[EUR][1000 genomes]
rs74134210	1.00[EUR][1000 genomes]
rs74134216	1.00[EUR][1000 genomes]
rs74134265	1.00[EUR][1000 genomes]
rs74134306	1.00[EUR][1000 genomes]
rs74135337	1.00[EUR][1000 genomes]
rs74135346	1.00[EUR][1000 genomes]
rs74135350	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74135351	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74135359	1.00[EUR][1000 genomes]
rs74135362	1.00[EUR][1000 genomes]
rs74135365	1.00[EUR][1000 genomes]
rs7517811	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519398	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7521401	1.00[ASN][1000 genomes]
rs7532062	1.00[ASN][1000 genomes]
rs7532431	1.00[ASN][1000 genomes]
rs7540727	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540773	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541361	1.00[ASN][1000 genomes]
rs7544162	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544394	1.00[EUR][1000 genomes]
rs7544808	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7546152	1.00[ASN][1000 genomes]
rs7547368	1.00[ASN][1000 genomes]
rs7555536	1.00[ASN][1000 genomes]
rs959689	1.00[EUR][1000 genomes]
rs9628626	1.00[ASN][1000 genomes]
rs9628634	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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185753600-185759600	Weak transcription	Pancreas	Pancrea
2	chr1:185755200-185759400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:185755200-185760000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:185755400-185766600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:185756400-185761600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:185757600-185760000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:185757600-185760200	Enhancers	Fetal Intestine Large	intestine
8	chr1:185757800-185760000	Enhancers	Osteobl	bone
9	chr1:185758000-185760000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:185758400-185759600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:185758400-185759600	Enhancers	Fetal Kidney	kidney
12	chr1:185758400-185759800	Enhancers	Colon Smooth Muscle	Colon
13	chr1:185758400-185759800	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:185758400-185759800	Enhancers	Right Atrium	heart
15	chr1:185758400-185760000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:185758400-185760000	Enhancers	Aorta	Aorta
17	chr1:185758400-185760000	Enhancers	Fetal Heart	heart
18	chr1:185758600-185759800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:185758800-185759600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:185758800-185759800	Enhancers	NHDF-Ad	bronchial
21	chr1:185758800-185760000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:185758800-185760000	Enhancers	Adipose Nuclei	Adipose
23	chr1:185758800-185760000	Enhancers	Fetal Intestine Small	intestine
24	chr1:185759000-185759800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:185759000-185760000	Enhancers	Gastric	stomach
26	chr1:185759000-185760000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr1:185759200-185760000	Enhancers	HUVEC	blood vessel
28	chr1:185759200-185760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:185759200-185767000	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links