Variant report

Variant	rs10198711
Chromosome Location	chr2:73465970-73465971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:73465882-73466355	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:73465154-73466944	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr2:73465901-73466646	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73429115..73431039-chr2:73464836..73467648,3	MCF-7	breast:
2	chr2:73458967..73467121-chr2:73493000..73498306,11	MCF-7	breast:

Variant related genes	Relation type
CCT7	TF binding region
ENSG00000163013	Chromatin interaction
ENSG00000214513	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10048666	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048720	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048837	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048838	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10185970	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10193579	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10195007	1.00[ASN][1000 genomes]
rs10195282	1.00[ASN][1000 genomes]
rs11884073	0.89[ASN][1000 genomes]
rs11888772	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893547	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009208	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385938	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386236	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13404992	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409784	0.89[ASN][1000 genomes]
rs13423796	0.89[ASN][1000 genomes]
rs13424035	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008829	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008862	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008864	1.00[ASN][1000 genomes]
rs2043092	1.00[ASN][1000 genomes]
rs2288632	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464603	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28494567	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768636	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820701	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57321619	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60913601	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61534579	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757079	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903461	0.89[ASN][1000 genomes]
rs7594590	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv2776	chr2:73431854-73482304	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 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	chr2:73462200-73466800	Weak transcription	Aorta	Aorta
2	chr2:73462600-73467800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:73463000-73466000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:73463000-73466000	Weak transcription	HSMMtube	muscle
5	chr2:73463000-73466200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:73463000-73466200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:73463000-73466200	Weak transcription	Esophagus	oesophagus
8	chr2:73463000-73466200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:73463000-73466400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:73463000-73466800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:73463000-73469000	Weak transcription	Colonic Mucosa	Colon
12	chr2:73463000-73482400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:73463200-73466200	Weak transcription	Brain Anterior Caudate	brain
14	chr2:73463200-73466200	Weak transcription	Fetal Stomach	stomach
15	chr2:73463200-73466400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:73463200-73466800	Weak transcription	Brain Angular Gyrus	brain
17	chr2:73463200-73466800	Weak transcription	Fetal Intestine Small	intestine
18	chr2:73463200-73466800	Weak transcription	NHDF-Ad	bronchial
19	chr2:73463200-73467200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:73463200-73467600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:73463200-73469800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:73463200-73470200	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:73463200-73470400	Weak transcription	Fetal Kidney	kidney
24	chr2:73463200-73471400	Weak transcription	Fetal Brain Male	brain
25	chr2:73463200-73471400	Weak transcription	Stomach Mucosa	stomach
26	chr2:73463400-73466200	Weak transcription	HMEC	breast
27	chr2:73463400-73466200	Weak transcription	NHLF	lung
28	chr2:73463400-73466400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:73463400-73466400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:73463400-73467000	Genic enhancers	A549	lung
31	chr2:73463400-73467200	Genic enhancers	HepG2	liver
32	chr2:73463400-73467200	Genic enhancers	K562	blood
33	chr2:73463400-73469800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:73463400-73471000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:73463600-73483800	Strong transcription	Primary B cells from cord blood	blood
36	chr2:73463800-73466200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:73463800-73466600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
38	chr2:73463800-73467200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:73464000-73466400	Genic enhancers	Liver	Liver
40	chr2:73464000-73476200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:73464000-73480800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr2:73464000-73482000	Strong transcription	Primary hematopoietic stem cells	blood
43	chr2:73464000-73482200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr2:73464200-73466000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:73464200-73466400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:73464200-73466600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:73464200-73466800	Weak transcription	Gastric	stomach
48	chr2:73464200-73466800	Weak transcription	Lung	lung
49	chr2:73464200-73467000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:73464200-73480400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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