Variant report

Variant	rs1277288
Chromosome Location	chr4:57851807-57851808
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57850899..57852464-chr4:57888501..57890167,2	K562	blood:
2	chr4:57842821..57845222-chr4:57848302..57852353,5	MCF-7	breast:
3	chr4:57773779..57775624-chr4:57849367..57852363,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000084093	Chromatin interaction
ENSG00000084092	Chromatin interaction
ENSG00000047315	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1107675	0.83[ASN][1000 genomes]
rs11727683	0.84[ASN][1000 genomes]
rs11735158	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11932673	0.82[ASN][1000 genomes]
rs1277271	0.89[ASN][1000 genomes]
rs1277287	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13121176	0.80[ASN][1000 genomes]
rs1315005	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1315006	0.84[EUR][1000 genomes]
rs1625691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17081937	0.90[ASN][1000 genomes]
rs17087307	0.82[ASN][1000 genomes]
rs17087317	0.82[ASN][1000 genomes]
rs1713994	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1713997	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1718839	0.88[ASN][1000 genomes]
rs1718882	0.95[EUR][1000 genomes]
rs1976780	0.82[ASN][1000 genomes]
rs34576794	0.87[ASN][1000 genomes]
rs34659774	0.82[ASN][1000 genomes]
rs3733306	0.85[ASN][1000 genomes]
rs41552420	0.82[ASN][1000 genomes]
rs41556916	0.84[ASN][1000 genomes]
rs56182208	0.84[ASN][1000 genomes]
rs56285301	0.84[ASN][1000 genomes]
rs57469512	0.84[ASN][1000 genomes]
rs6816457	0.89[ASN][1000 genomes]
rs73242624	0.86[EUR][1000 genomes]
rs73242631	0.82[ASN][1000 genomes]
rs781665	0.88[ASN][1000 genomes]
rs781666	0.88[ASN][1000 genomes]
rs781668	0.88[ASN][1000 genomes]
rs9942208	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers 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 miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57846000-57852000	Weak transcription	Aorta	Aorta
2	chr4:57846000-57853600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:57846000-57855600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:57846000-57881000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:57846200-57853000	Weak transcription	Fetal Kidney	kidney
6	chr4:57846200-57853600	Weak transcription	Esophagus	oesophagus
7	chr4:57846200-57861600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:57846200-57861800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:57846600-57852200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:57846600-57853200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:57846600-57861200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:57846800-57852000	Weak transcription	NHDF-Ad	bronchial
13	chr4:57846800-57852200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:57846800-57852600	Weak transcription	HSMMtube	muscle
15	chr4:57846800-57900000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:57847000-57853000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:57847000-57853800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:57847000-57853800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:57847000-57861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:57847200-57853000	Weak transcription	Colonic Mucosa	Colon
21	chr4:57847200-57853400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:57847200-57853600	Weak transcription	Spleen	Spleen
23	chr4:57847600-57853800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:57847600-57856000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr4:57847800-57853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:57848000-57852000	Weak transcription	Brain Substantia Nigra	brain
27	chr4:57848000-57861400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:57848200-57852000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:57848200-57852600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:57848200-57853000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:57848400-57852000	Weak transcription	HSMM	muscle
32	chr4:57848400-57852400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr4:57848400-57852800	Weak transcription	HMEC	breast
34	chr4:57848400-57853000	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:57848400-57860800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr4:57848400-57875200	Weak transcription	Stomach Mucosa	stomach
37	chr4:57848600-57852200	Weak transcription	Brain Germinal Matrix	brain
38	chr4:57848600-57900000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:57849000-57855200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:57849000-57900000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:57849200-57869000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr4:57849200-57886200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:57849400-57852000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:57849400-57852000	Weak transcription	A549	lung
45	chr4:57849400-57852000	Weak transcription	NHEK	skin
46	chr4:57849400-57853000	Weak transcription	Brain Angular Gyrus	brain
47	chr4:57849400-57853000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr4:57849400-57853800	Weak transcription	Right Ventricle	heart
49	chr4:57849400-57854000	Weak transcription	Small Intestine	intestine
50	chr4:57849400-57857600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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