Variant report

Variant	rs17196057
Chromosome Location	chr13:94823845-94823846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1333244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16949504	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523303	1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535828	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs608537	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652841	1.00[CEU][hapmap]
rs7986832	1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9589925	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933807	chr13:94187158-94845505	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv430599	chr13:94699399-94934930	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv933263	chr13:94711183-94897124	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1051276	chr13:94745995-94872494	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv526048	chr13:94767311-94880219	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv562754	chr13:94770794-94895346	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94814800-94825400	Weak transcription	Fetal Intestine Small	intestine
2	chr13:94821200-94824200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr13:94821800-94824400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:94822000-94824200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr13:94822000-94824400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr13:94822000-94824400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:94822000-94824400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr13:94822000-94824600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr13:94822000-94825600	Weak transcription	Aorta	Aorta
10	chr13:94822200-94834200	Weak transcription	Fetal Kidney	kidney
11	chr13:94822600-94825000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr13:94822600-94828600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr13:94822800-94824000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:94822800-94825000	Weak transcription	HSMM	muscle
15	chr13:94822800-94825000	Weak transcription	NH-A	brain
16	chr13:94823000-94824000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:94823000-94824000	Weak transcription	Fetal Lung	lung
18	chr13:94823000-94824200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr13:94823200-94824400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:94823200-94824600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr13:94823200-94825200	Weak transcription	Fetal Stomach	stomach
22	chr13:94823400-94824200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr13:94823400-94824200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr13:94823400-94825000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:94823400-94825000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:94823400-94825000	Weak transcription	Osteobl	bone
27	chr13:94823600-94824200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr13:94823600-94825000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:94823600-94825000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:94823600-94825000	Weak transcription	Liver	Liver
31	chr13:94823800-94824000	Enhancers	Adipose Nuclei	Adipose

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