Variant report

Variant	rs1447245
Chromosome Location	chr8:99901224-99901225
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99900255..99902088-chr8:99919103..99920638,2	MCF-7	breast:
2	chr8:99901039..99903111-chr8:100022856..100025470,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253948	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10447977	0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes]
rs11774463	0.95[MEX][hapmap];1.00[YRI][hapmap]
rs11778767	0.86[CHB][hapmap]
rs11780500	0.86[CHB][hapmap]
rs12114834	0.91[CHB][hapmap];0.88[CHD][hapmap]
rs12541317	0.85[CHB][hapmap]
rs12547297	0.84[ASW][hapmap];0.95[MEX][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes]
rs12547849	1.00[YRI][hapmap]
rs12679734	0.91[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs12680195	0.81[CHB][hapmap];0.95[MEX][hapmap];0.80[AMR][1000 genomes]
rs13275915	0.91[MEX][hapmap]
rs1476181	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs17373806	1.00[YRI][hapmap]
rs1961744	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2028975	0.82[EUR][1000 genomes]
rs2442011	0.80[EUR][1000 genomes]
rs2442012	0.80[AMR][1000 genomes]
rs2442013	0.81[EUR][1000 genomes]
rs2442014	0.80[AMR][1000 genomes]
rs2515214	0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap]
rs2515221	0.82[EUR][1000 genomes]
rs2515225	0.80[EUR][1000 genomes]
rs2922066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2922068	0.81[JPT][hapmap]
rs2922073	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2922074	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2922075	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2922076	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2922078	0.91[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2922081	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2922082	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2922084	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019286	0.99[ASN][1000 genomes]
rs3019290	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3019291	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3019293	0.81[AMR][1000 genomes]
rs34281206	0.84[AMR][1000 genomes]
rs34366206	0.95[CHB][hapmap];0.88[CHD][hapmap];0.87[LWK][hapmap];0.82[MEX][hapmap];1.00[YRI][hapmap]
rs35536167	0.84[AMR][1000 genomes]
rs35798019	0.86[CHB][hapmap]
rs35915594	0.80[AMR][1000 genomes]
rs4131873	0.91[MEX][hapmap]
rs4255105	0.91[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.87[AMR][1000 genomes]
rs4279561	0.91[MEX][hapmap]
rs4292660	0.91[JPT][hapmap]
rs4304299	0.80[AMR][1000 genomes]
rs4413739	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4549741	0.91[MEX][hapmap]
rs4562286	0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap]
rs4734417	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735574	0.91[MEX][hapmap]
rs57034072	0.80[AMR][1000 genomes]
rs62535412	0.80[AMR][1000 genomes]
rs7827435	0.91[JPT][hapmap]
rs7838239	0.86[CHB][hapmap]
rs7845271	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99897600-99913800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:99899800-99905400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:99900000-99901400	Enhancers	GM12878-XiMat	blood
4	chr8:99900000-99904600	Enhancers	Rectal Smooth Muscle	rectum
5	chr8:99900000-99904800	Enhancers	Fetal Muscle Leg	muscle
6	chr8:99900000-99904800	Enhancers	Fetal Stomach	stomach
7	chr8:99900600-99901400	Enhancers	Aorta	Aorta
8	chr8:99900600-99904000	Enhancers	Fetal Lung	lung
9	chr8:99900600-99905000	Enhancers	Liver	Liver
10	chr8:99900800-99902000	Enhancers	Adipose Nuclei	Adipose
11	chr8:99900800-99902000	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr8:99900800-99902200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:99900800-99902200	Enhancers	Fetal Heart	heart
14	chr8:99900800-99902600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:99901000-99901400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:99901000-99901400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr8:99901000-99901400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:99901000-99901600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:99901000-99901800	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr8:99901000-99902000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:99901000-99902000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr8:99901000-99902400	Enhancers	Right Atrium	heart
23	chr8:99901000-99904400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:99901200-99901400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr8:99901200-99901600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:99901200-99901600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:99901200-99901600	Active TSS	Ovary	ovary
28	chr8:99901200-99901800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:99901200-99902000	Flanking Active TSS	K562	blood
30	chr8:99901200-99902600	Weak transcription	Fetal Kidney	kidney

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