Variant report

Variant	rs72783916
Chromosome Location	chr10:5661737-5661738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5644481..5646205-chr10:5661416..5663471,2	K562	blood:
2	chr10:5533027..5543195-chr10:5659124..5672516,23	MCF-7	breast:
3	chr10:5651072..5653798-chr10:5661014..5663831,3	MCF-7	breast:
4	chr10:5484376..5493176-chr10:5653017..5671828,35	MCF-7	breast:
5	chr10:5651351..5653513-chr10:5657933..5661985,4	K562	blood:
6	chr10:5659171..5662010-chr10:5707160..5709672,2	MCF-7	breast:
7	chr10:5502051..5504914-chr10:5661389..5662940,2	MCF-7	breast:
8	chr10:5657592..5659369-chr10:5661066..5662573,2	MCF-7	breast:
9	chr10:5636705..5640848-chr10:5659114..5662313,5	MCF-7	breast:
10	chr10:5534628..5543320-chr10:5658612..5667994,15	MCF-7	breast:
11	chr10:5661199..5663810-chr10:5670974..5675658,5	MCF-7	breast:
12	chr10:5483715..5496703-chr10:5653374..5669304,43	MCF-7	breast:
13	chr10:5493862..5495402-chr10:5660246..5663182,2	MCF-7	breast:
14	chr10:5652672..5654514-chr10:5659912..5662392,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000242147	Chromatin interaction
ENSG00000173848	Chromatin interaction
ENSG00000196372	Chromatin interaction
ENSG00000231483	Chromatin interaction
ENSG00000178372	Chromatin interaction
ENSG00000240577	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11812356	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41290303	0.96[EUR][1000 genomes]
rs60068477	0.99[EUR][1000 genomes]
rs60407789	0.99[EUR][1000 genomes]
rs67418441	0.85[EUR][1000 genomes]
rs72772127	0.90[EUR][1000 genomes]
rs72783920	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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	nsv466719	chr10:5645895-5662915	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv549891	chr10:5645895-5662915	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5650200-5662600	Enhancers	Fetal Muscle Leg	muscle
2	chr10:5650400-5661800	Enhancers	Fetal Muscle Trunk	muscle
3	chr10:5651800-5665000	Weak transcription	Spleen	Spleen
4	chr10:5656000-5665000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:5656600-5662800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:5656600-5665000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:5656600-5665000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr10:5656800-5665000	Weak transcription	Liver	Liver
9	chr10:5657000-5662600	Enhancers	Adipose Nuclei	Adipose
10	chr10:5657200-5662800	Enhancers	Fetal Stomach	stomach
11	chr10:5657400-5662800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr10:5657400-5665000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:5658000-5665000	Weak transcription	Colonic Mucosa	Colon
14	chr10:5658000-5673600	Weak transcription	Left Ventricle	heart
15	chr10:5658800-5662600	Enhancers	Esophagus	oesophagus
16	chr10:5659000-5662200	Enhancers	Placenta	Placenta
17	chr10:5659200-5661800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr10:5659200-5662200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr10:5659200-5662400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr10:5659200-5665000	Weak transcription	Pancreas	Pancrea
21	chr10:5659400-5662800	Enhancers	Stomach Smooth Muscle	stomach
22	chr10:5659600-5662800	Enhancers	Aorta	Aorta
23	chr10:5660000-5662800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:5660200-5661800	Enhancers	NHEK	skin
25	chr10:5660200-5662000	Enhancers	Fetal Intestine Small	intestine
26	chr10:5660200-5662200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:5660200-5662400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:5660200-5662400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr10:5660400-5661800	Enhancers	Fetal Intestine Large	intestine
30	chr10:5660400-5661800	Enhancers	HMEC	breast
31	chr10:5660400-5661800	Enhancers	HSMM	muscle
32	chr10:5660400-5662200	Enhancers	Fetal Thymus	thymus
33	chr10:5660400-5663000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr10:5660600-5662000	Enhancers	NHDF-Ad	bronchial
35	chr10:5660600-5662400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:5660600-5662800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr10:5660800-5661800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr10:5660800-5661800	Flanking Active TSS	HepG2	liver
39	chr10:5660800-5662800	Enhancers	Ovary	ovary
40	chr10:5661000-5661800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:5661000-5662200	Enhancers	Fetal Lung	lung
42	chr10:5661000-5662200	Enhancers	Stomach Mucosa	stomach
43	chr10:5661000-5662200	Enhancers	A549	lung
44	chr10:5661000-5665000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr10:5661200-5661800	Enhancers	Fetal Kidney	kidney
46	chr10:5661200-5662000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:5661200-5662600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:5661200-5662800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr10:5661200-5662800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr10:5661200-5664800	Weak transcription	K562	blood

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