Variant report

Variant	rs72773968
Chromosome Location	chr5:96139595-96139596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:96139552-96139981	K562	blood:	n/a	n/a
2	MAFK	chr5:96139588-96139768	HepG2	liver:	n/a	chr5:96139696-96139706

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96137984..96139800-chr5:96270455..96273278,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272109	TF binding region
ENSG00000247121	Chromatin interaction
ENSG00000113441	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10515246	1.00[AFR][1000 genomes]
rs10515247	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10515248	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10515249	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs10515250	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11135480	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11738115	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11738810	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11739020	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11740375	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11740598	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11741100	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11742261	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11743410	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11745157	0.89[EUR][1000 genomes]
rs11746534	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11747148	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11747179	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11747896	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11748328	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11748519	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11748795	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11749811	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs11750283	0.85[EUR][1000 genomes]
rs11750464	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11750671	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11750934	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12186366	1.00[AFR][1000 genomes]
rs13601	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17401901	1.00[AFR][1000 genomes]
rs17402639	1.00[AFR][1000 genomes]
rs17402704	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17405676	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17481334	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17481759	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17481856	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs17484359	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2042386	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs3213809	0.89[EUR][1000 genomes]
rs3333	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3334	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3335	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs35898772	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3797805	0.89[EUR][1000 genomes]
rs55773007	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs55996659	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs56119802	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs56213813	0.92[EUR][1000 genomes]
rs56319744	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56325109	0.81[EUR][1000 genomes]
rs56395748	1.00[AFR][1000 genomes];0.89[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];0.93[EUR][1000 genomes]
rs72773922	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72773923	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72773932	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72773942	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72773947	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs72773950	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs72773969	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72773981	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72773986	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72773989	0.89[EUR][1000 genomes]
rs72773991	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72775807	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72775809	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72775817	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72775818	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96115200-96141200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr5:96115400-96142000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:96116200-96141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:96119000-96142000	Weak transcription	A549	lung
5	chr5:96126800-96142800	Weak transcription	Brain Germinal Matrix	brain
6	chr5:96127000-96140400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:96127000-96142600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:96127000-96142800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:96127200-96139600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr5:96127200-96139800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr5:96127400-96142600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:96127400-96142600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:96127400-96142600	Weak transcription	NH-A	brain
14	chr5:96127600-96141600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:96127600-96142800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:96132200-96141400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:96132200-96142800	Weak transcription	HSMM	muscle
18	chr5:96132600-96142000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:96132600-96142600	Weak transcription	Fetal Brain Female	brain
20	chr5:96132800-96141800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:96132800-96142600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:96133000-96140200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:96133000-96141200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:96133000-96141200	Weak transcription	K562	blood
25	chr5:96133000-96141400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:96133000-96141400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:96133000-96142000	Weak transcription	Hela-S3	cervix
28	chr5:96133000-96142200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:96133000-96142200	Weak transcription	Fetal Kidney	kidney
30	chr5:96133000-96142600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:96133000-96142600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:96133000-96142800	Weak transcription	Fetal Brain Male	brain
33	chr5:96133000-96142800	Weak transcription	HSMMtube	muscle
34	chr5:96133200-96141200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:96133200-96141200	Weak transcription	HepG2	liver
36	chr5:96133200-96142000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:96133200-96142000	Weak transcription	NHDF-Ad	bronchial
38	chr5:96133200-96142600	Weak transcription	HUVEC	blood vessel
39	chr5:96133200-96142800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:96133800-96142800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:96135000-96141200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
42	chr5:96135600-96139600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr5:96135800-96141600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:96135800-96141800	Weak transcription	Brain Angular Gyrus	brain
45	chr5:96136000-96141200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:96136000-96142600	Weak transcription	Fetal Heart	heart
47	chr5:96136400-96141400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:96136800-96141200	Weak transcription	HMEC	breast
49	chr5:96136800-96141800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:96136800-96142000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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