Variant report

Variant	rs9599188
Chromosome Location	chr13:67709854-67709855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:67702842..67705667-chr13:67707651..67711312,4	K562	blood:
2	chr13:67685964..67690654-chr13:67706296..67711657,6	K562	blood:
3	chr13:67686001..67691093-chr13:67707345..67712221,5	K562	blood:
4	chr13:67701562..67704458-chr13:67707651..67710683,4	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17082025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17082106	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17195224	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17517037	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17517404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17517922	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17589160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927823	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1927825	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2181880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2209902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs260172	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs28623094	0.81[ASN][1000 genomes]
rs55794233	0.81[ASN][1000 genomes]
rs56064337	0.81[ASN][1000 genomes]
rs73211165	0.81[ASN][1000 genomes]
rs73211167	0.81[ASN][1000 genomes]
rs73211168	0.81[ASN][1000 genomes]
rs7329084	1.00[CHB][hapmap]
rs7983216	1.00[JPT][hapmap]
rs9317636	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9592498	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9599173	0.81[ASN][1000 genomes]
rs9599174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9599176	0.81[ASN][1000 genomes]
rs9599180	0.81[ASN][1000 genomes]
rs9599182	1.00[JPT][hapmap]
rs9599183	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9599184	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv430581	chr13:67572850-67762288	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv430582	chr13:67589898-67762299	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1037217	chr13:67589937-67728156	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1039600	chr13:67593961-67726047	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv541823	chr13:67593961-67726047	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1053514	chr13:67687520-67775011	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67708200-67710600	Active TSS	Stomach Smooth Muscle	stomach
2	chr13:67708600-67710000	Enhancers	Fetal Heart	heart
3	chr13:67709000-67710000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:67709000-67710000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:67709000-67710000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:67709000-67710000	Weak transcription	Liver	Liver
7	chr13:67709000-67710000	Weak transcription	Brain Angular Gyrus	brain
8	chr13:67709000-67710200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr13:67709000-67710200	Weak transcription	Right Atrium	heart
10	chr13:67709000-67710200	Enhancers	Dnd41	blood
11	chr13:67709000-67710400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:67709000-67710600	Weak transcription	Fetal Lung	lung
13	chr13:67709000-67711400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:67709000-67711400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:67709000-67711400	Weak transcription	HSMM	muscle
16	chr13:67709000-67711400	Weak transcription	HSMMtube	muscle
17	chr13:67709200-67710000	Weak transcription	Brain Anterior Caudate	brain
18	chr13:67709200-67710600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:67709200-67711200	Weak transcription	Osteobl	bone
20	chr13:67709200-67711400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:67709200-67711400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:67709200-67711600	Weak transcription	HUVEC	blood vessel
23	chr13:67709400-67710000	Enhancers	Brain Substantia Nigra	brain
24	chr13:67709400-67717800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr13:67709600-67710200	Enhancers	K562	blood
26	chr13:67709800-67710000	Enhancers	Brain Cingulate Gyrus	brain
27	chr13:67709800-67710000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr13:67709800-67710000	Active TSS	A549	lung
29	chr13:67709800-67710600	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr13:67709800-67711400	Weak transcription	Muscle Satellite Cultured Cells	--

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