Variant report

Variant	rs72746768
Chromosome Location	chr5:43038708-43038709
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr5:43036692-43038919	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF12	chr5:43038639-43038912	GM12878	blood:	n/a	n/a
3	YY1	chr5:43038608-43038975	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:43037897-43039072	HUVEC	blood vessel:	n/a	n/a
5	FOXM1	chr5:43037827-43038882	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:43036949-43038717	HL-60	blood:	n/a	n/a
7	PML	chr5:43037672-43038872	GM12878	blood:	n/a	chr5:43038426-43038434
8	HMGN3	chr5:43038662-43038858	K562	blood:	n/a	n/a
9	UBTF	chr5:43038487-43038922	K562	blood:	n/a	n/a
10	RUNX3	chr5:43037804-43038917	GM12878	blood:	n/a	chr5:43038430-43038439 chr5:43038430-43038439
11	POLR2A	chr5:43038026-43039068	HL-60	blood:	n/a	n/a
12	EGR1	chr5:43038629-43038864	K562	blood:	n/a	n/a
13	MAX	chr5:43038659-43038859	K562	blood:	n/a	n/a
14	RCOR1	chr5:43036862-43039162	IMR90	lung:	n/a	n/a
15	POLR2A	chr5:43038682-43038912	GM12878	blood:	n/a	n/a
16	POLR2A	chr5:43036710-43039237	H1-neurons	neurons:	n/a	n/a
17	MTA3	chr5:43037784-43039044	GM12878	blood:	n/a	n/a
18	NFIC	chr5:43037818-43038829	GM12878	blood:	n/a	n/a
19	MAX	chr5:43038516-43039039	K562	blood:	n/a	n/a
20	TEAD4	chr5:43037808-43039115	K562	blood:	n/a	n/a
21	RUNX3	chr5:43037818-43038916	GM12878	blood:	n/a	chr5:43038430-43038439 chr5:43038430-43038439
22	POLR2A	chr5:43037889-43039063	PANC-1	pancreas:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43005892..43011349-chr5:43037590..43043804,20	K562	blood:
2	chr5:43034026..43036831-chr5:43037498..43040104,5	MCF-7	breast:
3	chr5:43013791..43017090-chr5:43037504..43040048,4	K562	blood:
4	chr5:42907582..42909644-chr5:43037324..43039921,2	K562	blood:
5	chr5:42911247..42912986-chr5:43038290..43040466,2	MCF-7	breast:
6	chr5:43016691..43021968-chr5:43036071..43044426,17	MCF-7	breast:
7	chr5:43014739..43026335-chr5:43034830..43045515,33	MCF-7	breast:
8	chr5:43013791..43016658-chr5:43037504..43040048,3	K562	blood:
9	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:
10	chr5:42967335..42969495-chr5:43037103..43039655,2	K562	blood:
11	chr5:43038347..43039048-chr5:43105566..43106088,2	MCF-7	breast:
12	chr5:43036901..43050217-chr5:43060442..43069391,53	MCF-7	breast:
13	chr5:43037720..43044659-chr5:43062293..43069444,31	K562	blood:
14	chr5:43036891..43039253-chr5:43074561..43077276,2	MCF-7	breast:
15	chr5:43038662..43048059-chr5:43059399..43070773,40	MCF-7	breast:
16	chr5:43038312..43041170-chr5:43074041..43076906,4	K562	blood:
17	chr5:43005322..43013124-chr5:43037748..43043287,15	K562	blood:
18	chr5:43008478..43012422-chr5:43036002..43039064,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215068	TF binding region
ENSG00000272144	Chromatin interaction
ENSG00000271788	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000251656	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10472376	1.00[ASN][1000 genomes]
rs10941609	1.00[ASN][1000 genomes]
rs11744076	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746055	1.00[ASN][1000 genomes]
rs12516224	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12521684	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361827	1.00[ASN][1000 genomes]
rs160331	1.00[ASN][1000 genomes]
rs160332	1.00[ASN][1000 genomes]
rs16872962	1.00[ASN][1000 genomes]
rs16874465	1.00[ASN][1000 genomes]
rs17300495	1.00[ASN][1000 genomes]
rs2444853	1.00[ASN][1000 genomes]
rs2548363	1.00[ASN][1000 genomes]
rs2548367	1.00[ASN][1000 genomes]
rs2548368	1.00[ASN][1000 genomes]
rs2603635	1.00[ASN][1000 genomes]
rs2924818	1.00[ASN][1000 genomes]
rs309920	1.00[ASN][1000 genomes]
rs309928	1.00[ASN][1000 genomes]
rs309933	1.00[ASN][1000 genomes]
rs309937	1.00[ASN][1000 genomes]
rs309943	1.00[ASN][1000 genomes]
rs309944	1.00[ASN][1000 genomes]
rs309945	1.00[ASN][1000 genomes]
rs315247	1.00[ASN][1000 genomes]
rs315248	1.00[ASN][1000 genomes]
rs315259	1.00[ASN][1000 genomes]
rs315261	1.00[ASN][1000 genomes]
rs315265	1.00[ASN][1000 genomes]
rs315267	1.00[ASN][1000 genomes]
rs375476	1.00[ASN][1000 genomes]
rs378886	1.00[ASN][1000 genomes]
rs387180	1.00[ASN][1000 genomes]
rs388377	1.00[ASN][1000 genomes]
rs399923	1.00[ASN][1000 genomes]
rs401102	1.00[ASN][1000 genomes]
rs401583	1.00[ASN][1000 genomes]
rs404899	1.00[ASN][1000 genomes]
rs408180	1.00[ASN][1000 genomes]
rs410225	1.00[ASN][1000 genomes]
rs424862	1.00[ASN][1000 genomes]
rs426335	1.00[ASN][1000 genomes]
rs435255	1.00[ASN][1000 genomes]
rs435445	1.00[ASN][1000 genomes]
rs55736023	1.00[ASN][1000 genomes]
rs55962848	1.00[ASN][1000 genomes]
rs55981030	1.00[ASN][1000 genomes]
rs56027646	1.00[ASN][1000 genomes]
rs56035132	1.00[ASN][1000 genomes]
rs56092116	1.00[ASN][1000 genomes]
rs56289342	1.00[ASN][1000 genomes]
rs56307687	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56346893	1.00[ASN][1000 genomes]
rs57643758	1.00[ASN][1000 genomes]
rs57792463	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58933160	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60087060	1.00[ASN][1000 genomes]
rs60244620	1.00[ASN][1000 genomes]
rs60303876	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6887414	1.00[ASN][1000 genomes]
rs72746737	1.00[ASN][1000 genomes]
rs72746739	1.00[ASN][1000 genomes]
rs72746746	1.00[ASN][1000 genomes]
rs72746753	1.00[ASN][1000 genomes]
rs72746762	1.00[ASN][1000 genomes]
rs72746766	1.00[ASN][1000 genomes]
rs72746770	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748850	1.00[ASN][1000 genomes]
rs72759052	1.00[ASN][1000 genomes]
rs72759060	1.00[ASN][1000 genomes]
rs72759062	1.00[ASN][1000 genomes]
rs72759067	1.00[ASN][1000 genomes]
rs72759071	1.00[ASN][1000 genomes]
rs72759072	1.00[ASN][1000 genomes]
rs72759073	1.00[ASN][1000 genomes]
rs72759075	1.00[ASN][1000 genomes]
rs72759077	1.00[ASN][1000 genomes]
rs72759084	1.00[ASN][1000 genomes]
rs72759085	1.00[ASN][1000 genomes]
rs72759086	1.00[ASN][1000 genomes]
rs72759087	1.00[ASN][1000 genomes]
rs72759093	1.00[ASN][1000 genomes]
rs72759095	1.00[ASN][1000 genomes]
rs72759097	1.00[ASN][1000 genomes]
rs72762696	1.00[ASN][1000 genomes]
rs72762697	1.00[ASN][1000 genomes]
rs72762698	1.00[ASN][1000 genomes]
rs72762701	1.00[ASN][1000 genomes]
rs72764507	1.00[ASN][1000 genomes]
rs72764510	1.00[ASN][1000 genomes]
rs72764515	1.00[ASN][1000 genomes]
rs72764524	1.00[ASN][1000 genomes]
rs73754528	1.00[ASN][1000 genomes]
rs7702086	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
9	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43035200-43039600	Weak transcription	Hela-S3	cervix
2	chr5:43035600-43039200	Weak transcription	HepG2	liver
3	chr5:43035800-43039400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:43036800-43039000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr5:43036800-43039600	Active TSS	Placenta	Placenta
6	chr5:43036800-43043800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:43037000-43039000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr5:43037000-43039000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr5:43037000-43039000	Flanking Active TSS	NHEK	skin
10	chr5:43037000-43039600	Bivalent/Poised TSS	Left Ventricle	heart
11	chr5:43037000-43040200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr5:43037000-43040400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:43037000-43042200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
14	chr5:43037200-43038800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr5:43037200-43039000	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr5:43037200-43039600	Active TSS	Muscle Satellite Cultured Cells	--
17	chr5:43037200-43040000	Active TSS	Lung	lung
18	chr5:43037200-43042400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
19	chr5:43037200-43042800	Active TSS	Right Ventricle	heart
20	chr5:43037400-43038800	Flanking Bivalent TSS/Enh	Liver	Liver
21	chr5:43037400-43038800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:43037400-43039000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr5:43037400-43039400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:43037400-43039600	Active TSS	Esophagus	oesophagus
25	chr5:43037400-43040000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr5:43037400-43043000	Active TSS	HSMM	muscle
27	chr5:43037400-43045000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:43037600-43039000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr5:43037600-43039000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
30	chr5:43037600-43039000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr5:43037600-43039200	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr5:43037600-43040600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:43037800-43039800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:43037800-43040200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
35	chr5:43037800-43042400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:43037800-43042800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:43037800-43042800	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr5:43037800-43043400	Active TSS	Right Atrium	heart
39	chr5:43038000-43039200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr5:43038000-43040800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:43038000-43042600	Active TSS	Dnd41	blood
42	chr5:43038000-43043600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:43038200-43038800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
44	chr5:43038200-43038800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:43038200-43038800	Active TSS	NHLF	lung
46	chr5:43038200-43039000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:43038200-43039000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:43038200-43039000	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr5:43038200-43039000	Flanking Active TSS	Thymus	Thymus
50	chr5:43038200-43039200	Flanking Active TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links