Variant report

Variant	rs13031609
Chromosome Location	chr2:190077338-190077339
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190075089..190077923-chr2:190078136..190079757,2	MCF-7	breast:
2	chr2:190076562..190079002-chr2:190079096..190081087,2	K562	blood:
3	chr2:190076426..190078062-chr2:190079096..190081781,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10166385	0.83[ASN][1000 genomes]
rs10172607	0.83[ASN][1000 genomes]
rs10173224	0.84[ASN][1000 genomes]
rs10184895	0.83[ASN][1000 genomes]
rs10755002	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10931403	0.82[ASN][1000 genomes]
rs10931404	0.81[AFR][1000 genomes]
rs11901914	0.81[ASN][1000 genomes]
rs12474942	0.81[ASN][1000 genomes]
rs12999122	0.85[AFR][1000 genomes]
rs12999125	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13012327	0.82[AFR][1000 genomes]
rs13015183	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13028226	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13408928	0.84[ASN][1000 genomes]
rs13411992	0.85[ASN][1000 genomes]
rs13413518	0.84[ASN][1000 genomes]
rs1356161	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1356166	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1399992	0.84[AFR][1000 genomes]
rs1515866	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1515874	0.83[AFR][1000 genomes]
rs1533618	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1546617	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1913892	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1973666	0.80[ASN][1000 genomes]
rs1983318	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2351631	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2351632	0.82[ASN][1000 genomes]
rs2351633	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4667270	0.84[ASN][1000 genomes]
rs4667271	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6728877	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6732534	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7587147	0.84[AFR][1000 genomes]
rs7587956	0.85[AFR][1000 genomes]
rs7599222	0.85[ASN][1000 genomes]
rs7603704	0.82[ASN][1000 genomes]
rs939160	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190074000-190079400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:190075600-190079200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:190075800-190078000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:190075800-190079800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:190076000-190079400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:190076000-190087200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:190076000-190096800	Weak transcription	Aorta	Aorta
8	chr2:190076200-190077800	Enhancers	K562	blood
9	chr2:190076800-190078000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:190076800-190078000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:190076800-190081600	Weak transcription	NH-A	brain
12	chr2:190076800-190081800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:190076800-190082200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:190076800-190082200	Weak transcription	HUVEC	blood vessel
15	chr2:190077000-190077400	Enhancers	A549	lung
16	chr2:190077000-190078000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:190077000-190078000	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:190077000-190078000	Weak transcription	NHLF	lung
19	chr2:190077000-190078200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:190077000-190078200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:190077000-190078200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:190077000-190078200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:190077000-190078200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:190077000-190078200	Weak transcription	Osteobl	bone
25	chr2:190077000-190078400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:190077000-190078400	Weak transcription	Fetal Lung	lung
27	chr2:190077000-190078600	Enhancers	NHDF-Ad	bronchial
28	chr2:190077000-190081000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:190077000-190081600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:190077000-190081600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:190077000-190082000	Weak transcription	HSMM	muscle
32	chr2:190077000-190082200	Weak transcription	HSMMtube	muscle
33	chr2:190077000-190082400	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:190077000-190082600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:190077000-190086000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:190077000-190086400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:190077000-190086600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:190077000-190086600	Weak transcription	Fetal Stomach	stomach
39	chr2:190077200-190077600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:190077200-190077600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:190077200-190078200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links