Variant report

Variant	rs2093640
Chromosome Location	chr13:53526995-53526996
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12583997	0.80[ASN][1000 genomes]
rs12586102	0.80[ASN][1000 genomes]
rs17053235	0.86[ASN][1000 genomes]
rs55724041	0.83[ASN][1000 genomes]
rs7321816	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs74088744	0.83[ASN][1000 genomes]
rs74088759	0.80[ASN][1000 genomes]
rs74088762	0.80[ASN][1000 genomes]
rs74088763	0.80[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	nsv832613	chr13:53524319-53687188	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53522800-53527000	Weak transcription	Dnd41	blood
2	chr13:53522800-53529000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:53523200-53527600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr13:53524200-53528400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:53524200-53528600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:53524400-53527000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:53524600-53529800	Weak transcription	Brain Anterior Caudate	brain
8	chr13:53525200-53527400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:53525400-53529600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr13:53525600-53529600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr13:53525800-53527400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr13:53525800-53528200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr13:53526000-53529600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:53526200-53527400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr13:53526200-53528800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr13:53526400-53528600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:53526400-53528800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr13:53526600-53528800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:53526800-53527400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr13:53526800-53527400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:53526800-53528800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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