Variant report

Variant	rs17253787
Chromosome Location	chr13:94956826-94956827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

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]
rs17253794	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];0.85[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]
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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94951600-94961200	Weak transcription	Fetal Brain Male	brain
2	chr13:94954800-94958600	Enhancers	HepG2	liver
3	chr13:94955000-94958400	Enhancers	Liver	Liver
4	chr13:94955200-94957000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr13:94955400-94957200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:94955400-94964800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:94955600-94957000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:94955600-94957400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr13:94955600-94961000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:94955800-94957200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:94955800-94957400	Enhancers	Fetal Heart	heart
12	chr13:94955800-94957600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:94955800-94957800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr13:94956000-94958400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr13:94956200-94957200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:94956200-94957600	Enhancers	HSMMtube	muscle
17	chr13:94956200-94958000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:94956200-94958400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:94956400-94959600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:94956400-94964000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:94956600-94957000	Weak transcription	Fetal Intestine Small	intestine
22	chr13:94956600-94958000	Enhancers	Primary T cells from cord blood	blood
23	chr13:94956600-94960000	Enhancers	HSMM	muscle
24	chr13:94956600-94964200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr13:94956600-94964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:94956800-94957800	Enhancers	Brain Anterior Caudate	brain
27	chr13:94956800-94958000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr13:94956800-94958400	Enhancers	A549	lung
29	chr13:94956800-94958400	Enhancers	HUVEC	blood vessel

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