Variant report

Variant	rs17023995
Chromosome Location	chr4:148768977-148768978
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	chr4:148761236..148763428-chr4:148766244..148769125,3	MCF-7	breast:
2	chr4:148768907..148770611-chr4:148774533..148777296,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10004850	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10007231	0.83[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10018820	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10018903	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10021936	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10022691	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10023057	0.83[CEU][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10025684	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10029385	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10030513	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1013842	0.83[CEU][hapmap];0.86[JPT][hapmap];0.99[EUR][1000 genomes]
rs10461235	0.83[CEU][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes]
rs11099670	0.99[EUR][1000 genomes]
rs11724795	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs11733409	1.00[CEU][hapmap];0.86[JPT][hapmap];0.97[EUR][1000 genomes]
rs12498257	0.83[CEU][hapmap];0.96[EUR][1000 genomes]
rs12511313	0.99[EUR][1000 genomes]
rs12641291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12647314	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13116821	0.91[ASN][1000 genomes]
rs13129747	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13148956	0.97[EUR][1000 genomes]
rs13434396	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1347596	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1436489	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1436490	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469865	0.83[CEU][hapmap];0.86[JPT][hapmap];0.99[EUR][1000 genomes]
rs1469867	0.97[EUR][1000 genomes]
rs17023919	0.97[ASN][1000 genomes]
rs17023928	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs28662484	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35115631	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4240338	0.82[ASN][1000 genomes]
rs4240339	0.89[ASN][1000 genomes]
rs4419463	0.82[ASN][1000 genomes]
rs4835101	0.97[EUR][1000 genomes]
rs4835461	0.83[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4835463	0.83[CEU][hapmap];0.85[JPT][hapmap];0.99[EUR][1000 genomes]
rs4835464	0.86[EUR][1000 genomes]
rs62330695	0.81[ASN][1000 genomes]
rs6535565	0.99[EUR][1000 genomes]
rs66488204	0.97[ASN][1000 genomes]
rs6839440	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6846526	0.97[EUR][1000 genomes]
rs6846899	0.83[CEU][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs6853296	0.95[EUR][1000 genomes]
rs71616571	0.96[EUR][1000 genomes]
rs7654433	0.83[CEU][hapmap];0.86[JPT][hapmap];0.97[EUR][1000 genomes]
rs7655236	0.83[ASN][1000 genomes]
rs7664567	0.97[EUR][1000 genomes]
rs7666127	1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs893022	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs893024	0.83[CEU][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes]
rs9995896	0.93[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs9996108	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9996209	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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148737800-148782200	Weak transcription	Thymus	Thymus
2	chr4:148743200-148782200	Weak transcription	Fetal Intestine Large	intestine
3	chr4:148751400-148776000	Weak transcription	Fetal Stomach	stomach
4	chr4:148753400-148782000	Weak transcription	Gastric	stomach
5	chr4:148754400-148769000	Weak transcription	NHLF	lung
6	chr4:148755600-148773200	Weak transcription	Esophagus	oesophagus
7	chr4:148756800-148777800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:148762400-148770000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:148762400-148771000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:148762800-148775400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:148763200-148771000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr4:148763200-148796200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr4:148763800-148776000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:148764400-148770600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:148764400-148786000	Weak transcription	NH-A	brain
16	chr4:148764400-148787000	Weak transcription	NHEK	skin
17	chr4:148764600-148771200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:148764600-148771200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:148764600-148771400	Weak transcription	Aorta	Aorta
20	chr4:148764600-148772400	Weak transcription	Brain Angular Gyrus	brain
21	chr4:148764600-148775800	Weak transcription	HSMMtube	muscle
22	chr4:148764600-148776200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:148764600-148787800	Weak transcription	HMEC	breast
24	chr4:148765000-148771400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:148765800-148769000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:148766000-148770200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr4:148766200-148769400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:148766200-148782000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:148766400-148769200	Weak transcription	Right Ventricle	heart
30	chr4:148766400-148787600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr4:148766600-148771400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:148766600-148796200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:148766800-148770000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:148767200-148769000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:148767200-148769000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:148767200-148769400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:148767200-148773200	Strong transcription	HSMM	muscle
38	chr4:148767400-148769800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr4:148767600-148770200	Enhancers	Fetal Lung	lung
40	chr4:148767600-148796400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr4:148767800-148769000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:148767800-148769600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr4:148767800-148770400	Enhancers	Fetal Kidney	kidney
44	chr4:148767800-148770800	Weak transcription	Fetal Thymus	thymus
45	chr4:148767800-148774400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr4:148768000-148770000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr4:148768000-148772200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:148768200-148769000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr4:148768200-148769000	Weak transcription	Small Intestine	intestine
50	chr4:148768200-148769000	Strong transcription	NHDF-Ad	bronchial

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