Variant report

Variant	rs2408300
Chromosome Location	chr13:51801358-51801359
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1887161	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35219766	0.83[ASN][1000 genomes]
rs7333270	0.86[ASN][1000 genomes]
rs7333287	0.85[ASN][1000 genomes]
rs9526734	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9526737	0.87[ASN][1000 genomes]
rs9568553	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832610	chr13:51636661-51822106	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51797200-51803200	Weak transcription	Spleen	Spleen
2	chr13:51797400-51803800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr13:51797400-51804600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr13:51797400-51804800	Weak transcription	Aorta	Aorta
5	chr13:51797600-51804400	Weak transcription	NHLF	lung
6	chr13:51797800-51803400	Weak transcription	Fetal Lung	lung
7	chr13:51797800-51803400	Weak transcription	HUVEC	blood vessel
8	chr13:51797800-51804000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr13:51797800-51806000	Enhancers	Fetal Brain Male	brain
10	chr13:51798000-51803200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:51798000-51804000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr13:51798200-51804600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:51798400-51802600	Weak transcription	Brain Germinal Matrix	brain
14	chr13:51798400-51802800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr13:51798400-51803200	Weak transcription	Left Ventricle	heart
16	chr13:51798400-51804800	Weak transcription	Lung	lung
17	chr13:51799200-51801400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
18	chr13:51799200-51802000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr13:51799200-51803000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr13:51799200-51803000	Weak transcription	Psoas Muscle	Psoas
21	chr13:51799400-51804000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:51799600-51801400	Weak transcription	Brain Angular Gyrus	brain
23	chr13:51799600-51801400	Weak transcription	Fetal Brain Female	brain
24	chr13:51799600-51802000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
25	chr13:51799600-51803200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:51799600-51803600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:51799600-51804400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr13:51799600-51809000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr13:51799600-51809800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:51799800-51803000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr13:51799800-51818200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr13:51800000-51802800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr13:51800200-51801400	Weak transcription	Fetal Heart	heart
34	chr13:51800400-51802000	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr13:51800400-51804600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr13:51800600-51802200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr13:51800600-51804600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr13:51800600-51804600	Enhancers	Brain Hippocampus Middle	brain
39	chr13:51800800-51802000	Enhancers	Brain Cingulate Gyrus	brain
40	chr13:51800800-51803200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:51800800-51804800	Enhancers	Colon Smooth Muscle	Colon
42	chr13:51801000-51801400	Enhancers	Brain Substantia Nigra	brain
43	chr13:51801000-51801600	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr13:51801000-51801600	Enhancers	Brain Anterior Caudate	brain
45	chr13:51801000-51801800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:51801000-51802000	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr13:51801000-51802000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:51801000-51803000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr13:51801000-51803200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr13:51801200-51802000	Enhancers	Stomach Smooth Muscle	stomach

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