Variant report

Variant	rs4302835
Chromosome Location	chr8:35398324-35398325
allele	A/C
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	GATA3	chr8:35398078-35398368	SH-SY5Y	brain:	n/a	n/a
2	MYC	chr8:35398260-35398371	NB4	blood:	n/a	n/a
3	GATA2	chr8:35398106-35398417	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
UNC5D	TF binding region

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10086532	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10099855	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10102863	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10106901	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10111986	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10112860	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10216851	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10503980	0.83[EUR][1000 genomes]
rs12334629	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12334687	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12541423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12543657	0.89[ASN][1000 genomes]
rs12544168	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12544701	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12545517	0.83[EUR][1000 genomes]
rs12546560	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12546786	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12547584	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12550037	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13250198	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1371150	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1371154	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1439149	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1439150	0.82[EUR][1000 genomes]
rs1439159	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16884019	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16884041	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16884099	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16884109	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1837346	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1837348	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1992251	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1992252	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2053340	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2053342	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28748085	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35827990	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3899662	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41360948	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41409549	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4237083	0.82[ASN][1000 genomes]
rs4237084	0.82[ASN][1000 genomes]
rs4361760	0.80[ASN][1000 genomes]
rs4389936	0.82[ASN][1000 genomes]
rs4481589	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4529455	0.82[ASN][1000 genomes]
rs4577954	0.80[ASN][1000 genomes]
rs4579522	0.82[ASN][1000 genomes]
rs4739306	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4739409	0.82[ASN][1000 genomes]
rs4739412	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4739414	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4739415	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4739416	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56276341	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58417870	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59091238	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60810562	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6468320	0.93[ASN][1000 genomes]
rs6980691	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6988474	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6989128	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6990731	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6990960	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6991528	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6992105	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995309	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6997313	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7001739	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7002810	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7002972	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7011885	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016526	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73571880	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73674023	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7818666	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7821725	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7829642	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7833005	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7833633	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7834535	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7841785	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7845667	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs953345	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs953346	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs953347	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9656746	0.82[EUR][1000 genomes]
rs9772421	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9773948	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs983270	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs983271	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs983272	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs983273	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs997084	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv520421	chr8:35155517-35479468	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024397	chr8:35296922-35424277	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv533420	chr8:35358115-36227536	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv1824129	chr8:35395787-35400084	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
7	esv1842463	chr8:35395787-35400084	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
8	esv275263	chr8:35396135-35401379	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35391600-35401400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:35393800-35399800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:35396200-35399200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr8:35396600-35404000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:35397000-35398600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:35397000-35403600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:35397200-35400400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:35397200-35401400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:35397400-35398400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:35397400-35398400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:35397400-35399000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:35397600-35401400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:35398200-35398800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:35398200-35399000	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr8:35398200-35399200	Active TSS	Skeletal Muscle Female	skeletal muscle

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