Variant report

Variant	rs4361172
Chromosome Location	chr2:46996880-46996881
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46883840..46884354-chr2:46996727..46997565,2	MCF-7	breast:
2	chr2:46990483..46993440-chr2:46995579..46997950,2	MCF-7	breast:
3	chr2:46991531..46994585-chr2:46996184..46999045,3	K562	blood:
4	chr2:46992530..46995162-chr2:46996184..46999051,3	K562	blood:
5	chr2:46859579..46860115-chr2:46996827..46997682,2	MCF-7	breast:
6	chr2:46995520..46997154-chr2:47000594..47003342,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1009230	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1009231	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10167561	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10168342	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11125087	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12466948	0.86[ASN][1000 genomes]
rs12475080	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1456009	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1471056	0.87[ASN][1000 genomes]
rs1809216	0.86[ASN][1000 genomes]
rs1813505	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1867819	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2045291	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2061182	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3768720	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3814039	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4522653	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4953415	0.90[ASN][1000 genomes]
rs4953418	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6544918	0.86[ASN][1000 genomes]
rs6544919	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6544921	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6705847	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718677	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6721122	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726345	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6727934	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6728559	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6728881	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6730949	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6741706	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6746471	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6748938	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7568007	0.84[ASN][1000 genomes]
rs7570376	0.87[ASN][1000 genomes]
rs7580649	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs897528	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs958726	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs991559	0.87[ASN][1000 genomes]
rs991742	0.94[AFR][1000 genomes];0.94[ASN][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	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
2	chr2:46984400-46998600	Weak transcription	Fetal Brain Male	brain
3	chr2:46985600-46998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:46987200-46997800	Weak transcription	Liver	Liver
6	chr2:46987400-46997000	Weak transcription	Fetal Lung	lung
7	chr2:46987400-46997400	Weak transcription	Fetal Stomach	stomach
8	chr2:46987400-46997600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:46987400-46997600	Weak transcription	Fetal Intestine Small	intestine
10	chr2:46987400-47005600	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:46987400-47005600	Weak transcription	Left Ventricle	heart
12	chr2:46987600-46997000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:46987600-46997200	Weak transcription	HSMM	muscle
14	chr2:46987600-46997400	Weak transcription	Fetal Intestine Large	intestine
15	chr2:46987600-47006000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:46987800-46997200	Weak transcription	NH-A	brain
17	chr2:46988200-46997400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:46989400-46997200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:46991600-46997200	Weak transcription	Ovary	ovary
20	chr2:46992000-46997000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:46992200-46997000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:46992200-46997000	Weak transcription	NHLF	lung
23	chr2:46992400-47005400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:46993200-46997600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:46995000-46997000	Weak transcription	HepG2	liver
26	chr2:46995000-46999000	Enhancers	Osteobl	bone
27	chr2:46995200-46997000	Enhancers	A549	lung
28	chr2:46995200-46999000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:46995800-46997800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:46996000-46997000	Weak transcription	NHDF-Ad	bronchial
31	chr2:46996000-47005200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:46996600-46997400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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