Variant report

Variant	rs4689061
Chromosome Location	chr4:6995692-6995693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:6910242..6912678-chr4:6994521..6998393,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10015163	0.81[ASN][1000 genomes]
rs10937777	0.85[AMR][1000 genomes]
rs11732887	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11733522	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12499678	0.80[EUR][1000 genomes]
rs3857172	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3857173	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3892145	0.87[ASN][1000 genomes]
rs4261987	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4346651	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58935653	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6831368	0.82[ASN][1000 genomes]
rs6848114	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7664348	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7695050	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9291124	0.80[EUR][1000 genomes]
rs9790586	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS 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	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6989800-6998000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:6990000-6997400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:6990200-6995800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:6990400-7008800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:6991000-7021800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:6991200-6995800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr4:6991200-6996000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr4:6991400-6996000	Weak transcription	Fetal Lung	lung
9	chr4:6991400-7000800	Weak transcription	Colonic Mucosa	Colon
10	chr4:6991600-7000000	Weak transcription	Hela-S3	cervix
11	chr4:6991800-6995800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:6991800-6995800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:6993200-6999000	Strong transcription	Dnd41	blood
14	chr4:6993200-7006800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:6993600-6995800	Weak transcription	A549	lung
16	chr4:6993800-6998800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:6993800-7008400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:6994000-6995800	Weak transcription	Fetal Brain Male	brain
19	chr4:6994000-6996600	Weak transcription	Left Ventricle	heart
20	chr4:6994000-6996600	Weak transcription	NHDF-Ad	bronchial
21	chr4:6994000-6998000	Weak transcription	Aorta	Aorta
22	chr4:6994000-6998200	Weak transcription	Ovary	ovary
23	chr4:6994000-7000200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:6994000-7005200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:6994000-7008600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:6994000-7035600	Strong transcription	Fetal Stomach	stomach
27	chr4:6994000-7043200	Weak transcription	Right Atrium	heart
28	chr4:6994200-6995800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:6994200-6996600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:6994200-6996600	Weak transcription	Lung	lung
31	chr4:6994200-6996600	Weak transcription	Right Ventricle	heart
32	chr4:6994200-6996800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:6994200-6998400	Weak transcription	Small Intestine	intestine
34	chr4:6994200-7000400	Weak transcription	Fetal Heart	heart
35	chr4:6994200-7000600	Strong transcription	Fetal Muscle Leg	muscle
36	chr4:6994200-7035400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:6994400-6995800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:6994400-6995800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr4:6994400-6995800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:6994400-6995800	Genic enhancers	NHEK	skin
41	chr4:6994400-6996000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:6994400-6996000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:6994400-6996000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:6994400-6996000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr4:6994400-6996200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:6994400-6996200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:6994400-6996400	Weak transcription	Fetal Brain Female	brain
48	chr4:6994400-6996600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:6994400-6996600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:6994400-6998200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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