Variant report

Variant	rs4942965
Chromosome Location	chr13:51731672-51731673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51730986..51733604-chr13:52024721..52026662,2	K562	blood:

Variant related genes	Relation type
ENSG00000236778	Chromatin interaction
ENSG00000102786	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11148211	0.85[CEU][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap]
rs4245354	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4942963	0.84[AMR][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	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	nsv900079	chr13:51711436-51739168	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv900080	chr13:51711436-51754873	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4942965	RCBTB1	cis	parietal	SCAN
rs4942965	PHF11	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51723200-51732600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:51724000-51732600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:51726400-51732600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:51727000-51733800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr13:51727600-51732600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:51728200-51742600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:51729000-51732600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:51729000-51733200	Weak transcription	NHDF-Ad	bronchial
9	chr13:51729000-51749200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr13:51730200-51732000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr13:51730400-51734400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr13:51730600-51732600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr13:51730800-51732600	Weak transcription	Fetal Muscle Leg	muscle
14	chr13:51731000-51732800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr13:51731200-51732200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr13:51731200-51732400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr13:51731200-51732600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:51731200-51733000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr13:51731200-51733200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr13:51731400-51731800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:51731400-51731800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr13:51731400-51732600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:51731600-51732000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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