Variant report

Variant	rs73550479
Chromosome Location	chr13:95362035-95362036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:95360993-95362037	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:95357906..95359959-chr13:95361552..95364059,2	MCF-7	breast:
2	chr13:95355528..95357274-chr13:95361498..95363560,2	K562	blood:
3	chr13:95359884..95364398-chr13:95364758..95367708,4	MCF-7	breast:

Variant related genes	Relation type
SOX21-AS1	TF binding region
ENSG00000227640	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7332548	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv1813549	chr13:95333331-95377127	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1824604	chr13:95357807-95365771	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv826750	chr13:95358502-95368070	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95358600-95362400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr13:95358800-95366200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:95359000-95362200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr13:95359000-95368000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:95359200-95366600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:95359600-95366000	Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr13:95359600-95366400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:95360000-95364000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:95360400-95363200	Active TSS	Brain Germinal Matrix	brain
10	chr13:95360800-95362800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
11	chr13:95360800-95362800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr13:95360800-95363000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr13:95360800-95363600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:95361000-95363600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:95361400-95363200	Active TSS	Fetal Brain Female	brain
16	chr13:95361600-95362200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr13:95361600-95362400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
18	chr13:95361600-95362600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
19	chr13:95361600-95362600	Weak transcription	Brain Substantia Nigra	brain
20	chr13:95361800-95363600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
21	chr13:95361800-95366000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr13:95362000-95362400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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