Variant report

Variant	rs2288306
Chromosome Location	chr4:119686551-119686552
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	chr4:119679999..119681993-chr4:119684574..119686912,3	MCF-7	breast:
2	chr4:119668266..119671163-chr4:119684905..119687302,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10014512	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11735991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506245	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12513018	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13127508	0.80[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs2015531	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2389689	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298991	0.95[CEU][hapmap];0.82[GIH][hapmap];0.86[TSI][hapmap]
rs298996	0.95[CEU][hapmap];0.88[TSI][hapmap]
rs298998	0.95[CEU][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap]
rs299005	0.89[CEU][hapmap]
rs3775834	0.81[CHB][hapmap]
rs4340779	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6822035	0.81[ASW][hapmap];0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.84[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6828577	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6840404	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6854328	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6857117	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7697022	0.90[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:119625800-119718000	Weak transcription	Hela-S3	cervix
3	chr4:119640800-119692600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:119649200-119687600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:119649200-119693600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:119651800-119687400	Weak transcription	Thymus	Thymus
7	chr4:119654400-119687400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:119659600-119690400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:119660400-119688200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:119660400-119689800	Weak transcription	Brain Angular Gyrus	brain
11	chr4:119662000-119687600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr4:119662000-119694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:119665200-119687600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:119665800-119687400	Weak transcription	Spleen	Spleen
15	chr4:119668000-119689800	Weak transcription	Brain Germinal Matrix	brain
16	chr4:119668200-119690200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:119673000-119687400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:119673000-119687400	Weak transcription	Pancreas	Pancrea
19	chr4:119673200-119687400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:119673400-119687400	Weak transcription	Fetal Thymus	thymus
21	chr4:119673400-119687600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:119673400-119688000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr4:119673400-119688600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:119675400-119686600	Weak transcription	Brain Substantia Nigra	brain
25	chr4:119675800-119686800	Weak transcription	Stomach Mucosa	stomach
26	chr4:119675800-119687800	Weak transcription	Psoas Muscle	Psoas
27	chr4:119677000-119688800	Genic enhancers	Osteobl	bone
28	chr4:119678000-119689400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:119678200-119692000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:119678400-119687400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:119678600-119687400	Weak transcription	Gastric	stomach
32	chr4:119678600-119687400	Weak transcription	Lung	lung
33	chr4:119678600-119687600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:119678600-119687800	Weak transcription	Right Atrium	heart
35	chr4:119678600-119717400	Weak transcription	Esophagus	oesophagus
36	chr4:119679000-119687000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr4:119679000-119687600	Weak transcription	Fetal Intestine Small	intestine
38	chr4:119679000-119717600	Weak transcription	Colonic Mucosa	Colon
39	chr4:119680400-119693400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:119680600-119691800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:119680800-119687400	Weak transcription	Right Ventricle	heart
42	chr4:119680800-119688600	Genic enhancers	NHDF-Ad	bronchial
43	chr4:119681000-119688800	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr4:119681000-119692200	Strong transcription	HepG2	liver
45	chr4:119681200-119691600	Strong transcription	Placenta	Placenta
46	chr4:119681400-119691800	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr4:119681800-119686600	Weak transcription	Fetal Kidney	kidney
48	chr4:119682000-119689800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:119682200-119687200	Weak transcription	Primary B cells from cord blood	blood
50	chr4:119682200-119687600	Enhancers	Colon Smooth Muscle	Colon

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