Variant report

Variant	rs17253794
Chromosome Location	chr13:94959240-94959241
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	chr13:94951696..94953455-chr13:94958154..94960481,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11839525	1.00[CEU][hapmap]
rs17175238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17175245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17253787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7324370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7327943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7335845	1.00[ASN][1000 genomes]
rs7336410	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[ASN][1000 genomes]
rs9516383	1.00[CEU][hapmap]
rs9516385	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9516387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9516390	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9524403	1.00[CEU][hapmap]
rs9524413	1.00[CEU][hapmap]
rs9524419	1.00[CEU][hapmap]
rs9524420	1.00[CEU][hapmap]
rs9524425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9524432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9524434	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9524435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9524436	1.00[ASN][1000 genomes]
rs9524438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9584214	0.85[CHB][hapmap]
rs9645929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv948455	chr13:94451368-94988900	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916640	chr13:94521959-95101443	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv533063	chr13:94560362-95101443	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94951600-94961200	Weak transcription	Fetal Brain Male	brain
2	chr13:94955400-94964800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:94955600-94961000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:94956400-94959600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:94956400-94964000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:94956600-94960000	Enhancers	HSMM	muscle
7	chr13:94956600-94964200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr13:94956600-94964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:94957000-94959800	Enhancers	NHDF-Ad	bronchial
10	chr13:94957200-94962800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:94957200-94964000	Weak transcription	Fetal Intestine Small	intestine
12	chr13:94957400-94964000	Weak transcription	Fetal Heart	heart
13	chr13:94957800-94962000	Weak transcription	Brain Anterior Caudate	brain
14	chr13:94957800-94964000	Weak transcription	Fetal Stomach	stomach
15	chr13:94958000-94964800	Weak transcription	Brain Hippocampus Middle	brain
16	chr13:94958400-94959400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr13:94958400-94959800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:94958400-94960400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:94958400-94961000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:94958400-94961200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:94958400-94961800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:94958400-94961800	Weak transcription	HUVEC	blood vessel
23	chr13:94958400-94961800	Weak transcription	NHEK	skin
24	chr13:94958400-94962000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr13:94958400-94962000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:94958400-94962000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr13:94958400-94962000	Weak transcription	NH-A	brain
28	chr13:94958400-94962600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:94958400-94962600	Weak transcription	Fetal Muscle Leg	muscle
30	chr13:94958400-94964200	Weak transcription	Colon Smooth Muscle	Colon
31	chr13:94958400-94964600	Weak transcription	Ovary	ovary
32	chr13:94958400-94969200	Weak transcription	Liver	Liver
33	chr13:94958600-94961000	Weak transcription	HMEC	breast
34	chr13:94958600-94961200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:94958800-94961400	Weak transcription	Osteobl	bone
36	chr13:94958800-94981600	Weak transcription	Spleen	Spleen
37	chr13:94959000-94960800	Enhancers	HSMMtube	muscle
38	chr13:94959000-94962000	Weak transcription	NHLF	lung
39	chr13:94959200-94959400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:94959200-94961400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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