Variant report

Variant	rs61950443
Chromosome Location	chr13:53478832-53478833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11619239	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11619880	0.92[ASN][1000 genomes]
rs1980691	0.95[ASN][1000 genomes]
rs61950422	0.90[ASN][1000 genomes]
rs61950423	0.92[ASN][1000 genomes]
rs61950424	0.92[ASN][1000 genomes]
rs7986215	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv900090	chr13:53429453-53495715	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	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	chr13:53471600-53479200	Weak transcription	Brain Hippocampus Middle	brain
2	chr13:53476000-53482200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr13:53476200-53480200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:53476200-53481000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:53476200-53482400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr13:53476400-53482000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr13:53476600-53480600	Enhancers	Brain Germinal Matrix	brain
8	chr13:53476600-53481200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr13:53476600-53482400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:53476800-53482000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:53477000-53479000	Enhancers	Fetal Brain Female	brain
12	chr13:53477000-53479400	Enhancers	Fetal Brain Male	brain
13	chr13:53477000-53481000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr13:53477200-53480600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:53477400-53479600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
16	chr13:53477600-53480400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr13:53477600-53480600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr13:53477800-53479000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr13:53478200-53479400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:53478200-53479400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:53478400-53479000	Enhancers	Fetal Thymus	thymus
22	chr13:53478400-53479200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:53478400-53479200	Enhancers	Esophagus	oesophagus
24	chr13:53478400-53480600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:53478400-53480800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr13:53478600-53479000	Bivalent Enhancer	NHEK	skin
27	chr13:53478600-53479200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr13:53478600-53479200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr13:53478800-53479400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr13:53478800-53479600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr13:53478800-53479600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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