Variant report

Variant	rs12550037
Chromosome Location	chr8:35399982-35399983
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	POLR2A	chr8:35399677-35400184	SK-N-MC	brain:	n/a	n/a
2	EP300	chr8:35399976-35400276	SK-N-SH_RA	brain:	n/a	chr8:35400022-35400036
3	EP300	chr8:35398657-35400992	SK-N-SH	brain:	n/a	chr8:35400022-35400036 chr8:35399666-35399676 chr8:35400775-35400789
4	EP300	chr8:35399915-35400218	SK-N-SH_RA	brain:	n/a	chr8:35400022-35400036
5	FOXP2	chr8:35399612-35400268	SK-N-MC	brain:	n/a	chr8:35400166-35400178 chr8:35400039-35400051
6	FOS	chr8:35399974-35400097	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr8:35399392-35400417	SK-N-MC	brain:	n/a	n/a
8	TCF12	chr8:35399624-35400079	SK-N-SH	brain:	n/a	n/a
9	NFIC	chr8:35399786-35400325	ECC-1	luminal epithelium:	n/a	chr8:35400077-35400094 chr8:35400078-35400094

Variant related genes	Relation type
UNC5D	TF binding region

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10086532	0.89[ASN][1000 genomes]
rs10099855	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102863	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10106901	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10111986	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10112860	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10216851	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10503980	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12334629	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12334687	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12541423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12543657	0.82[ASN][1000 genomes]
rs12544168	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12544701	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12545517	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12546560	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12546786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547584	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13250198	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1371150	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1371154	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1439149	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1439150	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1439157	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs1439159	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16884019	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16884041	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16884099	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16884109	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1837346	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1837348	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1992251	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1992252	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2053340	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2053342	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2579889	0.82[ASN][1000 genomes]
rs2579890	0.81[ASN][1000 genomes]
rs2579892	0.81[ASN][1000 genomes]
rs2579896	0.80[ASN][1000 genomes]
rs2589744	0.83[ASN][1000 genomes]
rs2589760	0.81[ASN][1000 genomes]
rs28748085	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35827990	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3899662	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41360948	0.95[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41409549	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4237083	0.81[EUR][1000 genomes]
rs4302835	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4361760	0.81[EUR][1000 genomes]
rs4481589	0.84[EUR][1000 genomes]
rs4529455	0.81[EUR][1000 genomes]
rs4577954	0.81[EUR][1000 genomes]
rs4739306	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4739409	0.81[EUR][1000 genomes]
rs4739412	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4739414	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4739415	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4739416	0.88[ASN][1000 genomes]
rs56276341	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58417870	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59091238	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60810562	0.88[ASN][1000 genomes]
rs6468320	0.86[ASN][1000 genomes]
rs6980691	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6988474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989128	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6990731	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6990960	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6991528	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6992105	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6995309	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6997313	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7001739	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7002810	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7002972	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7011885	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7016526	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73571880	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73674023	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7818666	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7821725	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7829642	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7833005	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7833633	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7834535	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7841785	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7845667	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs953345	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs953346	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs953347	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9656746	0.84[EUR][1000 genomes]
rs9772421	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9773948	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs983270	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs983271	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs983272	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs983273	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs997084	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[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:22 , 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	chr8:35396600-35404000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:35397000-35403600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:35397200-35400400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:35397200-35401400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:35397600-35401400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:35398400-35400600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:35398400-35400800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:35398800-35401400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:35399000-35404000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:35399200-35400000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:35399200-35400200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:35399200-35401600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:35399200-35401800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:35399600-35400800	Enhancers	Fetal Lung	lung
16	chr8:35399600-35401400	Enhancers	Fetal Brain Male	brain
17	chr8:35399600-35403200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr8:35399800-35400000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:35399800-35400400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:35399800-35400400	Enhancers	Fetal Intestine Large	intestine
21	chr8:35399800-35401600	Enhancers	Duodenum Mucosa	Duodenum
22	chr8:35399800-35402600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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