Variant report

Variant	rs72783920
Chromosome Location	chr10:5665058-5665059
allele	C/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	CTCF	chr10:5665044-5665365	A549	lung:	n/a	chr10:5665281-5665299
2	CHD1	chr10:5664975-5665412	GM12878	blood:	n/a	n/a
3	CTCF	chr10:5664920-5665070	WI-38	lung:	n/a	n/a
4	JUN	chr10:5664906-5665714	K562	blood:	n/a	n/a
5	MAX	chr10:5664984-5665441	ECC-1	luminal epithelium:	n/a	n/a
6	NR2F2	chr10:5664893-5665672	MCF-7	breast:	n/a	n/a
7	ELF1	chr10:5665041-5665363	K562	blood:	n/a	n/a
8	RAD21	chr10:5664796-5665672	HCT-116	colon:	n/a	chr10:5665279-5665298
9	CTCF	chr10:5665012-5665498	H1-hESC	embryonic stem cell:	n/a	chr10:5665281-5665299
10	RAD21	chr10:5664936-5665570	A549	lung:	n/a	chr10:5665279-5665298
11	TCF12	chr10:5664831-5665670	A549	lung:	n/a	n/a
12	CTCF	chr10:5665027-5665420	H1-hESC	embryonic stem cell:	n/a	chr10:5665281-5665299
13	TCF12	chr10:5664978-5665622	ECC-1	luminal epithelium:	n/a	n/a
14	RAD21	chr10:5664781-5665664	HCT-116	colon:	n/a	chr10:5665279-5665298
15	ZNF143	chr10:5665050-5665467	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr10:5664895-5665604	ECC-1	luminal epithelium:	n/a	chr10:5665279-5665298
17	RAD21	chr10:5664937-5665602	MCF-7	breast:	n/a	chr10:5665279-5665298
18	CTCF	chr10:5664772-5666096	A549	lung:	n/a	chr10:5665281-5665299
19	MAX	chr10:5664885-5665547	A549	lung:	n/a	n/a
20	TCF7L2	chr10:5665046-5665322	Hela-S3	cervix:	n/a	n/a
21	ZNF263	chr10:5665020-5665525	HEK293-T-REx	kidney:	n/a	chr10:5665232-5665241
22	RAD21	chr10:5665028-5665496	H1-hESC	embryonic stem cell:	n/a	chr10:5665279-5665298
23	CTCF	chr10:5665030-5665451	K562	blood:	n/a	chr10:5665281-5665299
24	MAX	chr10:5664976-5665450	K562	blood:	n/a	n/a
25	YY1	chr10:5665027-5665500	H1-hESC	embryonic stem cell:	n/a	n/a
26	HDAC2	chr10:5664988-5665600	MCF-7	breast:	n/a	n/a
27	MAX	chr10:5664883-5665600	MCF-7	breast:	n/a	n/a
28	RCOR1	chr10:5665041-5665460	K562	blood:	n/a	n/a
29	CTCF	chr10:5665058-5665442	ECC-1	luminal epithelium:	n/a	chr10:5665281-5665299
30	MYBL2	chr10:5664999-5665531	HepG2	liver:	n/a	n/a
31	MAX	chr10:5664851-5665558	MCF-7	breast:	n/a	n/a
32	RAD21	chr10:5664846-5665673	A549	lung:	n/a	chr10:5665279-5665298
33	ATF3	chr10:5665020-5665576	A549	lung:	n/a	n/a
34	RAD21	chr10:5665020-5665503	H1-hESC	embryonic stem cell:	n/a	chr10:5665279-5665298
35	RAD21	chr10:5664940-5665531	HepG2	liver:	n/a	chr10:5665279-5665298
36	CTCF	chr10:5664939-5665624	HCT-116	colon:	n/a	chr10:5665281-5665299
37	TEAD4	chr10:5665056-5665512	K562	blood:	n/a	n/a
38	NR2F2	chr10:5664978-5665646	MCF-7	breast:	n/a	n/a
39	RAD21	chr10:5664776-5665545	MCF-7	breast:	n/a	chr10:5665279-5665298
40	RAD21	chr10:5664920-5665599	H1-hESC	embryonic stem cell:	n/a	chr10:5665279-5665298
41	GATA3	chr10:5664542-5665591	MCF-7	breast:	n/a	chr10:5665198-5665205 chr10:5664740-5664748
42	GATA3	chr10:5664984-5665466	MCF-7	breast:	n/a	chr10:5665198-5665205
43	SMC3	chr10:5664888-5665613	Hela-S3	cervix:	n/a	chr10:5665310-5665318 chr10:5665283-5665297
44	CTCF	chr10:5665058-5665507	HepG2	liver:	n/a	chr10:5665281-5665299
45	YY1	chr10:5665013-5665446	HepG2	liver:	n/a	n/a
46	YY1	chr10:5665056-5665429	GM12878	blood:	n/a	n/a
47	SP1	chr10:5665006-5665540	A549	lung:	n/a	chr10:5665149-5665163
48	CTCF	chr10:5665013-5665520	T-47D	breast:	n/a	chr10:5665281-5665299
49	RAD21	chr10:5665023-5665459	SK-N-SH_RA	brain:	n/a	chr10:5665279-5665298
50	GATA3	chr10:5664937-5665463	T-47D	breast:	n/a	chr10:5665198-5665205

No.	Distal block	Cell Line	Cell type
1	chr10:5533027..5543195-chr10:5659124..5672516,23	MCF-7	breast:
2	chr10:5664947..5667027-chr10:5854331..5857046,2	MCF-7	breast:
3	chr10:5595998..5596581-chr10:5664936..5665458,2	MCF-7	breast:
4	chr10:5519924..5522534-chr10:5663921..5666651,2	K562	blood:
5	chr10:5483412..5484324-chr10:5664681..5665600,3	MCF-7	breast:
6	chr10:5483777..5485122-chr10:5664835..5665857,8	MCF-7	breast:
7	chr10:5484376..5493176-chr10:5653017..5671828,35	MCF-7	breast:
8	chr10:5491006..5493868-chr10:5664560..5666317,3	K562	blood:
9	chr10:5623488..5628108-chr10:5662504..5666628,7	MCF-7	breast:
10	chr10:4891967..4892493-chr10:5664887..5665773,3	K562	blood:
11	chr10:5655010..5657602-chr10:5662784..5666424,4	MCF-7	breast:
12	chr10:5575744..5578406-chr10:5664031..5665635,2	MCF-7	breast:
13	chr10:5664649..5667001-chr10:5672952..5674907,2	K562	blood:
14	chr10:5453685..5455931-chr10:5663712..5666471,2	MCF-7	breast:
15	chr10:5534628..5543320-chr10:5658612..5667994,15	MCF-7	breast:
16	chr10:5538255..5539151-chr10:5664673..5665206,2	MCF-7	breast:
17	chr10:5478122..5480444-chr10:5662741..5665570,2	MCF-7	breast:
18	chr10:5483715..5496703-chr10:5653374..5669304,43	MCF-7	breast:
19	chr10:5593411..5593958-chr10:5664829..5665548,2	MCF-7	breast:
20	chr10:5664937..5665458-chr10:5701845..5702533,2	MCF-7	breast:
21	chr10:5483755..5485248-chr10:5664796..5665809,8	K562	blood:

Variant related genes	Relation type
ENSG00000228951	TF binding region
ENSG00000228685	TF binding region
ENSG00000173848	Chromatin interaction
ENSG00000057608	Chromatin interaction
ENSG00000240577	Chromatin interaction
ENSG00000178372	Chromatin interaction
ENSG00000272764	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11812356	0.86[EUR][1000 genomes]
rs41290303	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60068477	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60407789	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67418441	0.84[EUR][1000 genomes]
rs72772127	0.88[EUR][1000 genomes]
rs72783916	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv894798	chr10:5503610-5670275	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv523491	chr10:5542109-5720067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv2757364	chr10:5557024-5720512	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1040932	chr10:5637870-5665774	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv894806	chr10:5643511-5670275	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1054888	chr10:5645033-5694612	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv519582	chr10:5646103-5720067	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv894807	chr10:5647942-5691135	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv8599	chr10:5649129-5719928	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv1050965	chr10:5649760-5717125	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv1044330	chr10:5652006-5717125	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv975791	chr10:5652225-5711077	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	nsv466720	chr10:5652277-5715401	Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	nsv549892	chr10:5652277-5715401	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
18	nsv1037709	chr10:5652739-5717125	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
19	nsv470917	chr10:5654167-5715401	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
20	nsv818742	chr10:5654167-5715401	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
21	nsv1036492	chr10:5656962-5711147	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	nsv540473	chr10:5656962-5711147	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
23	nsv1036253	chr10:5657162-5711008	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
24	nsv540474	chr10:5657162-5711008	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5658000-5673600	Weak transcription	Left Ventricle	heart
2	chr10:5661600-5667800	Weak transcription	HSMMtube	muscle
3	chr10:5661600-5670000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:5661600-5670200	Weak transcription	Right Atrium	heart
5	chr10:5662200-5669800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:5662200-5670600	Weak transcription	Fetal Lung	lung
7	chr10:5662600-5668400	Weak transcription	NH-A	brain
8	chr10:5662800-5666600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:5662800-5667800	Weak transcription	Ovary	ovary
10	chr10:5663400-5669800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:5663800-5665800	Enhancers	Adipose Nuclei	Adipose
12	chr10:5664000-5665200	Enhancers	NHDF-Ad	bronchial
13	chr10:5664000-5665600	Enhancers	NHEK	skin
14	chr10:5664000-5665800	Enhancers	Fetal Muscle Leg	muscle
15	chr10:5664000-5670200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:5664400-5665400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr10:5664400-5665800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:5664600-5665600	Enhancers	A549	lung
19	chr10:5664600-5665600	Enhancers	HMEC	breast
20	chr10:5664800-5665200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:5664800-5665200	Enhancers	Osteobl	bone
22	chr10:5664800-5665600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:5664800-5665600	Enhancers	Fetal Intestine Small	intestine
24	chr10:5664800-5666000	Enhancers	Fetal Muscle Trunk	muscle
25	chr10:5665000-5665200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:5665000-5665200	Enhancers	Brain Angular Gyrus	brain
27	chr10:5665000-5665200	Active TSS	Brain Anterior Caudate	brain
28	chr10:5665000-5665200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr10:5665000-5665200	Enhancers	Esophagus	oesophagus
30	chr10:5665000-5665200	Enhancers	Fetal Stomach	stomach
31	chr10:5665000-5665200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr10:5665000-5665200	Enhancers	Spleen	Spleen
33	chr10:5665000-5665200	Flanking Active TSS	HepG2	liver
34	chr10:5665000-5665200	Enhancers	K562	blood
35	chr10:5665000-5665200	Enhancers	NHLF	lung
36	chr10:5665000-5665400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:5665000-5665400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:5665000-5665400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:5665000-5665400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr10:5665000-5665400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr10:5665000-5665400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr10:5665000-5665400	Enhancers	Brain Hippocampus Middle	brain
43	chr10:5665000-5665400	Enhancers	Fetal Brain Female	brain
44	chr10:5665000-5665400	Enhancers	Lung	lung
45	chr10:5665000-5665400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr10:5665000-5665400	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr10:5665000-5665600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr10:5665000-5665600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr10:5665000-5665600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr10:5665000-5665600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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