Variant report

Variant	rs9596491
Chromosome Location	chr13:51842513-51842514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1022854	1.00[YRI][hapmap]
rs17075482	0.86[YRI][hapmap]
rs17837207	0.81[JPT][hapmap]
rs17837209	0.89[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs4941695	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4942987	0.80[ASN][1000 genomes]
rs59452788	0.81[ASN][1000 genomes]
rs6561627	1.00[ASW][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs73195965	0.80[ASN][1000 genomes]
rs7995246	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9596491	TRIM13	cis	parietal	SCAN
rs9596491	FAM124A	cis	cerebellum	SCAN
rs9596491	RNASEH2B	cis	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51821600-51845000	Weak transcription	Fetal Brain Male	brain
2	chr13:51824200-51844000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:51826400-51854600	Weak transcription	Aorta	Aorta
4	chr13:51832800-51843200	Weak transcription	Fetal Lung	lung
5	chr13:51833600-51860400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:51834000-51845200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:51834000-51850800	Weak transcription	Pancreas	Pancrea
8	chr13:51834200-51856400	Weak transcription	Gastric	stomach
9	chr13:51836000-51845600	Weak transcription	Fetal Brain Female	brain
10	chr13:51836200-51843000	Weak transcription	Ovary	ovary
11	chr13:51836200-51850000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr13:51836600-51844600	Weak transcription	Brain Germinal Matrix	brain
13	chr13:51837200-51843000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr13:51837200-51844600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr13:51837200-51850400	Weak transcription	Adipose Nuclei	Adipose
16	chr13:51837400-51845200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr13:51837600-51852600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr13:51837800-51842600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:51837800-51860400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:51838800-51843200	Enhancers	Fetal Heart	heart
21	chr13:51839400-51845000	Enhancers	Brain Cingulate Gyrus	brain
22	chr13:51839600-51842800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr13:51839800-51846800	Enhancers	Brain Substantia Nigra	brain
24	chr13:51839800-51850200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr13:51839800-51854600	Weak transcription	Lung	lung
26	chr13:51840000-51842600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:51840000-51849600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr13:51840000-51852200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr13:51840000-51852600	Weak transcription	Fetal Stomach	stomach
30	chr13:51840200-51843000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr13:51840600-51842600	Enhancers	Brain Hippocampus Middle	brain
32	chr13:51840600-51843000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr13:51840600-51843400	Enhancers	Brain Angular Gyrus	brain
34	chr13:51840800-51844000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr13:51841000-51845800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr13:51841000-51849600	Weak transcription	Colon Smooth Muscle	Colon
37	chr13:51841000-51850200	Weak transcription	Right Atrium	heart
38	chr13:51841200-51843400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr13:51841200-51844000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:51841200-51858000	Weak transcription	Fetal Muscle Leg	muscle
41	chr13:51841400-51842600	Weak transcription	Brain Anterior Caudate	brain
42	chr13:51841600-51857600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr13:51841800-51842600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr13:51841800-51843200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr13:51842000-51842600	Enhancers	Right Ventricle	heart
46	chr13:51842000-51842800	Enhancers	Psoas Muscle	Psoas
47	chr13:51842000-51843200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr13:51842000-51843200	Enhancers	Left Ventricle	heart
49	chr13:51842000-51843400	Enhancers	H9 Cell Line	embryonic stem cell
50	chr13:51842000-51843600	Enhancers	Spleen	Spleen

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