Variant report

Variant	rs997568
Chromosome Location	chr1:184182392-184182393
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	chr1:184170545..184172702-chr1:184181137..184183319,2	MCF-7	breast:
2	chr1:184181152..184184064-chr1:184184716..184186334,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10752934	0.88[ASN][1000 genomes]
rs1078926	0.88[ASN][1000 genomes]
rs10797943	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11582627	0.87[ASN][1000 genomes]
rs11802851	0.81[ASN][1000 genomes]
rs12046452	0.90[ASN][1000 genomes]
rs12128341	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12136030	0.89[ASN][1000 genomes]
rs16822656	0.85[ASN][1000 genomes]
rs16822659	0.85[ASN][1000 genomes]
rs17574056	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1930285	0.84[ASN][1000 genomes]
rs2042556	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4651184	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4651185	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57882451	0.87[ASN][1000 genomes]
rs60072887	0.88[ASN][1000 genomes]
rs6661497	0.90[ASN][1000 genomes]
rs66781583	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6678439	0.86[ASN][1000 genomes]
rs6684045	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6691210	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6696916	0.90[ASN][1000 genomes]
rs67878484	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72735619	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7355183	0.81[ASN][1000 genomes]
rs7517993	0.87[ASN][1000 genomes]
rs7543622	0.80[ASN][1000 genomes]
rs997343	0.84[EUR][1000 genomes];0.97[ASN][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184162600-184191400	Weak transcription	Right Ventricle	heart
2	chr1:184169200-184187600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:184179400-184183200	Weak transcription	Gastric	stomach
4	chr1:184179400-184191800	Weak transcription	Fetal Kidney	kidney
5	chr1:184179600-184187600	Weak transcription	Fetal Brain Female	brain
6	chr1:184179600-184191600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:184180200-184187400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:184180200-184194400	Weak transcription	Fetal Brain Male	brain
9	chr1:184181600-184182400	Enhancers	Spleen	Spleen
10	chr1:184181800-184182400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:184181800-184182400	Enhancers	Aorta	Aorta
12	chr1:184181800-184182400	Enhancers	Pancreas	Pancrea
13	chr1:184181800-184182400	Enhancers	Right Atrium	heart
14	chr1:184181800-184182600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:184181800-184182600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:184181800-184182600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:184181800-184182600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:184181800-184182600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:184181800-184182600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:184181800-184182600	Enhancers	Placenta	Placenta
21	chr1:184181800-184182600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:184181800-184182600	Enhancers	GM12878-XiMat	blood
23	chr1:184181800-184182600	Enhancers	HSMM	muscle
24	chr1:184181800-184182600	Enhancers	HSMMtube	muscle
25	chr1:184181800-184182600	Enhancers	NH-A	brain
26	chr1:184181800-184182600	Enhancers	NHDF-Ad	bronchial
27	chr1:184181800-184182600	Enhancers	NHEK	skin
28	chr1:184181800-184182600	Enhancers	NHLF	lung
29	chr1:184181800-184182800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:184181800-184182800	Enhancers	Osteobl	bone
31	chr1:184182000-184182400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:184182000-184182400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:184182000-184182400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:184182000-184182400	Enhancers	Ovary	ovary
35	chr1:184182000-184182600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:184182000-184182600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:184182000-184182600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:184182000-184182600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:184182000-184182600	Enhancers	Stomach Mucosa	stomach
40	chr1:184182000-184182600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr1:184182000-184182800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr1:184182200-184182400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:184182200-184182600	Enhancers	Fetal Heart	heart
44	chr1:184182200-184182600	Enhancers	A549	lung
45	chr1:184182200-184182600	Enhancers	HMEC	breast
46	chr1:184182200-184187400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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