Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:184019109-184019708	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr1:184019095-184019603	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr1:184019070-184020105	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr1:184019060-184019802	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr1:184019064-184019839	SK-N-SH	brain:	n/a	n/a
6	EP300	chr1:184019160-184019807	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:183949335..183951538-chr1:184016784..184019314,2	K562	blood:
2	chr1:183915410..183918537-chr1:184018925..184022659,3	K562	blood:

Variant related genes	Relation type
TSEN15	TF binding region
ENSG00000198756	Chromatin interaction

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1034477	0.83[ASN][1000 genomes]
rs10797941	0.83[ASN][1000 genomes]
rs11576332	0.94[ASN][1000 genomes]
rs11582961	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11585756	0.83[ASN][1000 genomes]
rs12402790	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12403064	0.89[ASN][1000 genomes]
rs12408961	0.89[ASN][1000 genomes]
rs12411231	0.89[ASN][1000 genomes]
rs12725276	0.83[ASN][1000 genomes]
rs12729638	0.83[ASN][1000 genomes]
rs12734950	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12751711	0.94[ASN][1000 genomes]
rs1409812	0.94[ASN][1000 genomes]
rs16822379	0.94[ASN][1000 genomes]
rs17572231	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1926873	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1991170	0.83[ASN][1000 genomes]
rs34010717	0.83[ASN][1000 genomes]
rs34876045	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35178058	0.83[ASN][1000 genomes]
rs35514700	0.83[ASN][1000 genomes]
rs35947721	0.83[ASN][1000 genomes]
rs4650654	0.83[ASN][1000 genomes]
rs56239295	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58322431	0.89[ASN][1000 genomes]
rs61477737	0.83[ASN][1000 genomes]
rs68130131	0.83[ASN][1000 genomes]
rs73053551	0.89[ASN][1000 genomes]
rs765224	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs765225	0.81[AMR][1000 genomes];0.94[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12759837	C1orf19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184008000-184019800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:184009200-184019600	Weak transcription	K562	blood
3	chr1:184011800-184020200	Weak transcription	Aorta	Aorta
4	chr1:184015000-184019600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:184015000-184019800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:184015200-184019400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:184015400-184019800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:184017200-184019800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:184017200-184020000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:184017600-184020400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:184018400-184019800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:184018400-184020200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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