Variant report

Variant	rs12123511
Chromosome Location	chr1:193083501-193083502
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193082431..193083952-chr1:193102861..193105016,2	K562	blood:
2	chr1:193082948..193084568-chr1:193088755..193090637,2	MCF-7	breast:
3	chr1:193081847..193088145-chr1:193088466..193091962,12	MCF-7	breast:
4	chr1:193081962..193084481-chr1:193085010..193087899,2	MCF-7	breast:
5	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
6	chr1:193074012..193076302-chr1:193083174..193085527,2	MCF-7	breast:
7	chr1:193018810..193043703-chr1:193079188..193098601,93	K562	blood:

Variant related genes	Relation type
ENSG00000116750	Chromatin interaction
ENSG00000023572	Chromatin interaction
ENSG00000238754	Chromatin interaction
ENSG00000134371	Chromatin interaction
ENSG00000116747	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10489686	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10494675	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap]
rs10801170	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10801186	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10921331	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12118724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12119992	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12122868	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12123750	1.00[CEU][hapmap]
rs12123970	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12129832	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12132305	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12134846	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12135148	1.00[CEU][hapmap]
rs12135670	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12136893	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12141029	1.00[CEU][hapmap]
rs12145101	0.85[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1325196	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17526825	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17592121	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs17593120	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2887640	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28930673	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap]
rs28930674	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs34961778	0.82[AMR][1000 genomes]
rs35221108	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs528790	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs56022114	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6670264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6682904	1.00[CEU][hapmap]
rs72738588	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72738589	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72738599	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7415619	1.00[GIH][hapmap]
rs7544830	1.00[EUR][1000 genomes]
rs842805	1.00[GIH][hapmap]

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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193075000-193090400	Weak transcription	Right Atrium	heart
2	chr1:193075200-193084800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:193075400-193084000	Weak transcription	HUVEC	blood vessel
4	chr1:193075600-193084600	Weak transcription	Fetal Heart	heart
5	chr1:193080600-193085400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:193080600-193085400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:193081200-193084800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:193081200-193090400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:193081400-193084600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:193081400-193084600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:193081400-193084600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:193081400-193084600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:193081400-193084600	Weak transcription	HSMM	muscle
14	chr1:193081400-193084600	Weak transcription	NHEK	skin
15	chr1:193081400-193085000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:193081400-193085200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr1:193081600-193084000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:193081600-193084600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:193081600-193084600	Weak transcription	Fetal Intestine Small	intestine
20	chr1:193081600-193084600	Weak transcription	Hela-S3	cervix
21	chr1:193081600-193084600	Weak transcription	HMEC	breast
22	chr1:193081600-193084600	Weak transcription	HSMMtube	muscle
23	chr1:193081600-193084800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:193081600-193090600	Weak transcription	Lung	lung
25	chr1:193081800-193084000	Weak transcription	Osteobl	bone
26	chr1:193081800-193084200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:193081800-193084600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:193081800-193084600	Weak transcription	Fetal Intestine Large	intestine
29	chr1:193082000-193084800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr1:193082200-193083600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:193082200-193084600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:193082400-193083600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr1:193082400-193085400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:193082400-193085600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:193082800-193084000	Weak transcription	NH-A	brain
36	chr1:193082800-193084200	Flanking Active TSS	A549	lung
37	chr1:193082800-193085400	Enhancers	NHLF	lung
38	chr1:193082800-193085800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:193082800-193085800	Enhancers	Liver	Liver
40	chr1:193083000-193084800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:193083000-193085600	Enhancers	NHDF-Ad	bronchial
42	chr1:193083200-193085000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:193083200-193085200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr1:193083200-193090200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:193083400-193083800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:193083400-193084000	Flanking Active TSS	HepG2	liver
47	chr1:193083400-193084200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:193083400-193084600	Active TSS	K562	blood
49	chr1:193083400-193085000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:193083400-193085400	Enhancers	HUES6 Cell Line	embryonic stem cell

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