Variant report

Variant	rs72975192
Chromosome Location	chr3:138635701-138635702
allele	G/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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:138539568..138542251-chr3:138633369..138635951,2	K562	blood:
2	chr3:138406603..138408896-chr3:138634975..138637498,2	K562	blood:
3	chr3:138411178..138413390-chr3:138634135..138635854,2	MCF-7	breast:
4	chr3:138407189..138409579-chr3:138633061..138636215,3	MCF-7	breast:
5	chr3:138552393..138555107-chr3:138632980..138635921,5	MCF-7	breast:
6	chr3:138632940..138635986-chr3:138662755..138665505,3	K562	blood:
7	chr3:138417892..138418890-chr3:138634041..138635749,7	MCF-7	breast:
8	chr3:138415870..138419707-chr3:138634629..138636337,3	K562	blood:
9	chr3:138547576..138550266-chr3:138633999..138636358,2	MCF-7	breast:
10	chr3:138579482..138585214-chr3:138633331..138636801,5	K562	blood:
11	chr3:138546890..138548740-chr3:138633095..138635924,3	K562	blood:
12	chr3:138634130..138636640-chr3:138636697..138638996,2	MCF-7	breast:
13	chr3:138582033..138584014-chr3:138634089..138636895,3	K562	blood:
14	chr3:138549301..138556465-chr3:138628994..138637084,25	K562	blood:
15	chr3:138494200..138496855-chr3:138633256..138636170,2	K562	blood:
16	chr3:138633449..138636346-chr3:138637626..138640163,2	K562	blood:
17	chr3:138415870..138418377-chr3:138634629..138636337,2	K562	blood:
18	chr3:138551844..138556465-chr3:138627480..138638168,23	K562	blood:
19	chr3:138312593..138314567-chr3:138633570..138637203,5	MCF-7	breast:
20	chr3:138635695..138638288-chr3:138641147..138643586,2	MCF-7	breast:
21	chr3:138552399..138555934-chr3:138630715..138636171,8	MCF-7	breast:
22	chr3:138632940..138635852-chr3:138662958..138666566,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000206262	Chromatin interaction
ENSG00000114107	Chromatin interaction
ENSG00000239207	Chromatin interaction
ENSG00000051382	Chromatin interaction
ENSG00000183770	Chromatin interaction
ENSG00000244578	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1021135	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10935293	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11706377	0.87[ASN][1000 genomes]
rs11718698	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11919606	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11919625	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11923711	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12487074	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12695690	0.85[ASN][1000 genomes]
rs2062159	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2062160	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2348384	0.81[ASN][1000 genomes]
rs2348388	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2348390	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4894327	0.82[AMR][1000 genomes]
rs4894328	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4894360	0.82[AMR][1000 genomes]
rs4894365	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4894366	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4894367	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4894368	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4894369	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894370	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59509299	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59510253	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59746662	0.85[ASN][1000 genomes]
rs60261131	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6439820	0.82[AMR][1000 genomes]
rs67386737	0.87[ASN][1000 genomes]
rs6773967	0.81[ASN][1000 genomes]
rs6779898	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6790195	0.81[ASN][1000 genomes]
rs72975149	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72975151	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72975160	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72975167	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72975185	1.00[ASN][1000 genomes]
rs72975188	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975190	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231625	0.81[ASN][1000 genomes]
rs7614489	0.81[ASN][1000 genomes]
rs7627822	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7628753	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7631910	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7632846	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7637710	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289569	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9833876	0.80[EUR][1000 genomes]
rs9840090	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9877198	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9877882	0.85[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	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138635000-138636000	Enhancers	Stomach Mucosa	stomach
2	chr3:138635000-138636000	Enhancers	HUVEC	blood vessel
3	chr3:138635200-138635800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr3:138635200-138635800	Enhancers	Stomach Smooth Muscle	stomach
5	chr3:138635200-138635800	Flanking Active TSS	K562	blood
6	chr3:138635200-138636000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:138635200-138636000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:138635200-138636000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:138635200-138636000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr3:138635200-138636000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:138635200-138636000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:138635200-138636000	Enhancers	Liver	Liver
13	chr3:138635200-138636000	Enhancers	Esophagus	oesophagus
14	chr3:138635200-138636000	Enhancers	Fetal Intestine Small	intestine
15	chr3:138635200-138636000	Enhancers	Gastric	stomach
16	chr3:138635200-138636000	Enhancers	Pancreas	Pancrea
17	chr3:138635200-138636000	Enhancers	Spleen	Spleen
18	chr3:138635200-138636000	Enhancers	A549	lung
19	chr3:138635200-138636200	Enhancers	Placenta	Placenta
20	chr3:138635200-138640200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:138635200-138640200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:138635200-138640200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:138635200-138640200	Weak transcription	NH-A	brain
24	chr3:138635200-138642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:138635200-138642600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:138635200-138642600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:138635200-138652600	Weak transcription	Ovary	ovary
28	chr3:138635200-138654800	Weak transcription	Right Atrium	heart
29	chr3:138635400-138635800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr3:138635400-138635800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:138635400-138635800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:138635400-138635800	Weak transcription	NHDF-Ad	bronchial
33	chr3:138635400-138636000	Enhancers	Fetal Intestine Large	intestine
34	chr3:138635400-138636000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr3:138635400-138636000	Flanking Active TSS	Hela-S3	cervix
36	chr3:138635400-138636000	Enhancers	HMEC	breast
37	chr3:138635400-138636200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr3:138635400-138640400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:138635600-138635800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr3:138635600-138636000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:138635600-138636000	Enhancers	Duodenum Mucosa	Duodenum
42	chr3:138635600-138636000	Bivalent Enhancer	HepG2	liver
43	chr3:138635600-138636000	Enhancers	NHEK	skin
44	chr3:138635600-138640200	Weak transcription	NHLF	lung

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