Variant report

Variant	rs72740991
Chromosome Location	chr5:37663546-37663547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37659630..37663695-chr5:37665450..37669812,5	K562	blood:
2	chr5:37662824..37665076-chr5:37668148..37670201,3	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs41270339	0.81[EUR][1000 genomes]
rs55633811	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55654436	0.81[EUR][1000 genomes]
rs55789634	0.82[AFR][1000 genomes]
rs56003317	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56279820	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56347315	0.82[AFR][1000 genomes]
rs57825896	0.82[AFR][1000 genomes]
rs67885658	0.81[EUR][1000 genomes]
rs6866115	0.82[AFR][1000 genomes]
rs6872560	0.85[AFR][1000 genomes]
rs72740947	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72740968	0.97[EUR][1000 genomes]
rs72740970	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740972	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740973	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740974	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740975	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740978	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740981	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740983	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743159	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743164	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743167	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743169	0.81[EUR][1000 genomes]
rs72743170	0.81[EUR][1000 genomes]
rs72743176	0.81[EUR][1000 genomes]
rs72743180	0.81[EUR][1000 genomes]
rs72743185	0.81[EUR][1000 genomes]
rs72743187	0.81[EUR][1000 genomes]
rs72743190	0.81[EUR][1000 genomes]
rs72743192	0.81[EUR][1000 genomes]
rs72743193	0.81[EUR][1000 genomes]
rs72743196	0.81[EUR][1000 genomes]
rs72743200	0.81[EUR][1000 genomes]
rs72743201	0.81[EUR][1000 genomes]
rs72743202	0.81[EUR][1000 genomes]
rs72745106	0.81[EUR][1000 genomes]
rs72745108	0.81[EUR][1000 genomes]
rs73749049	0.82[AFR][1000 genomes]
rs73749052	0.82[AFR][1000 genomes]
rs73749053	0.82[AFR][1000 genomes]
rs73749067	0.82[AFR][1000 genomes]
rs73749069	0.82[AFR][1000 genomes]
rs73749070	0.82[AFR][1000 genomes]
rs7704083	0.86[EUR][1000 genomes]
rs7709969	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9283746	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1034094	chr5:37406859-37666704	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv537731	chr5:37406859-37666704	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv880890	chr5:37443079-37681646	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37647000-37665400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:37648000-37666000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:37654600-37671800	Weak transcription	Primary T cells from cord blood	blood
4	chr5:37655800-37663800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:37656600-37671600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:37658600-37666000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:37658800-37665400	Weak transcription	Right Ventricle	heart
8	chr5:37658800-37665600	Weak transcription	Left Ventricle	heart
9	chr5:37658800-37667400	Weak transcription	Hela-S3	cervix
10	chr5:37659000-37668000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:37659000-37668000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:37659000-37668600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:37659400-37665400	Weak transcription	Brain Angular Gyrus	brain
14	chr5:37659800-37665400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:37661400-37664000	Enhancers	Fetal Intestine Large	intestine
16	chr5:37661600-37664000	Enhancers	Fetal Intestine Small	intestine
17	chr5:37661600-37664200	Enhancers	Colon Smooth Muscle	Colon
18	chr5:37661600-37665400	Weak transcription	Brain Substantia Nigra	brain
19	chr5:37661600-37665600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:37661800-37663600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:37661800-37664200	Enhancers	Adipose Nuclei	Adipose
22	chr5:37661800-37664200	Enhancers	Rectal Smooth Muscle	rectum
23	chr5:37661800-37665000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr5:37662000-37665000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:37662000-37665400	Weak transcription	Brain Anterior Caudate	brain
26	chr5:37662000-37665400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:37662200-37664400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:37662200-37665400	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:37662200-37665400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr5:37662200-37665400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:37662400-37663600	Weak transcription	Fetal Stomach	stomach
32	chr5:37662400-37663600	Weak transcription	Ovary	ovary
33	chr5:37662600-37664000	Enhancers	Fetal Lung	lung
34	chr5:37662600-37664200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr5:37662600-37668200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr5:37662800-37663800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr5:37662800-37663800	Weak transcription	Lung	lung
38	chr5:37662800-37664000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:37662800-37667200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr5:37662800-37671800	Weak transcription	Small Intestine	intestine
41	chr5:37663000-37664000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:37663000-37664000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr5:37663000-37667600	Weak transcription	HepG2	liver
44	chr5:37663200-37664000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr5:37663200-37664000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:37663200-37664400	Enhancers	Osteobl	bone
47	chr5:37663400-37663600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:37663400-37663800	Enhancers	HSMM	muscle
49	chr5:37663400-37664000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr5:37663400-37664000	Enhancers	Fetal Muscle Leg	muscle

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