Variant report

Variant	rs72773986
Chromosome Location	chr5:96159717-96159718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96158505..96161239-chr5:96162094..96164343,2	MCF-7	breast:
2	chr5:96153135..96156038-chr5:96157520..96159852,2	MCF-7	breast:
3	chr5:96159522..96160358-chr7:106182565..106183090,2	MCF-7	breast:
4	chr5:96141844..96146815-chr5:96155332..96160391,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164307	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10515246	1.00[AFR][1000 genomes]
rs10515247	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10515248	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10515249	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10515250	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11135480	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11738115	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11738810	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11739020	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11740375	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11740598	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs11741100	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11742261	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11743410	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11745157	0.81[EUR][1000 genomes]
rs11746534	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11747148	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11747179	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11747896	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11748328	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs11748519	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11748795	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11749811	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11750464	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11750671	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs11750934	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12186366	1.00[AFR][1000 genomes]
rs13601	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17401901	1.00[AFR][1000 genomes]
rs17402639	1.00[AFR][1000 genomes]
rs17402704	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17405676	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17481334	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17481759	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17481856	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17484359	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2042386	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3213809	0.81[EUR][1000 genomes]
rs3333	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3334	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3335	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35898772	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs3797805	0.81[EUR][1000 genomes]
rs55773007	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs55996659	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56119802	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56213813	0.83[EUR][1000 genomes]
rs56319744	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs56395748	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs72773905	1.00[AFR][1000 genomes]
rs72773906	1.00[AFR][1000 genomes]
rs72773912	1.00[AFR][1000 genomes]
rs72773917	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72773922	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72773923	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72773932	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72773942	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72773947	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72773950	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72773968	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72773969	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72773981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72773989	0.99[EUR][1000 genomes]
rs72773991	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72775807	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs72775809	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs72775817	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72775818	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv516293	chr5:96070205-96216387	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv432756	chr5:96113844-96234644	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr5:96150400-96159800	Weak transcription	Fetal Intestine Large	intestine
2	chr5:96154400-96160400	Enhancers	Dnd41	blood
3	chr5:96156200-96160400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr5:96156600-96159800	Enhancers	NHEK	skin
5	chr5:96156600-96160800	Enhancers	HMEC	breast
6	chr5:96156800-96160600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:96157000-96160200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:96157400-96159800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:96157400-96160400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:96158400-96160600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:96158600-96160600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:96158600-96160600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:96158600-96160600	Enhancers	Hela-S3	cervix
14	chr5:96158600-96166400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:96158800-96160200	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:96158800-96160400	Enhancers	NHLF	lung
17	chr5:96159000-96159800	Weak transcription	Fetal Intestine Small	intestine
18	chr5:96159000-96160200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:96159000-96160200	Enhancers	HSMM	muscle
20	chr5:96159000-96162200	Weak transcription	Fetal Thymus	thymus
21	chr5:96159200-96160200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr5:96159200-96160400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:96159200-96160400	Enhancers	HUVEC	blood vessel
24	chr5:96159200-96160400	Enhancers	NH-A	brain
25	chr5:96159200-96160400	Enhancers	Osteobl	bone
26	chr5:96159200-96160600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:96159200-96161800	Weak transcription	Thymus	Thymus
28	chr5:96159400-96159800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:96159400-96160000	Enhancers	HepG2	liver
30	chr5:96159400-96160000	Enhancers	NHDF-Ad	bronchial
31	chr5:96159400-96160200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:96159400-96160200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:96159400-96160200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr5:96159600-96159800	Enhancers	Right Atrium	heart
35	chr5:96159600-96160200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:96159600-96160200	Enhancers	Stomach Mucosa	stomach

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