Variant report

Variant	rs10861301
Chromosome Location	chr12:105379048-105379049
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr12:105378972-105379391	HepG2	liver:	n/a	n/a
2	CTCF	chr12:105379000-105379150	BE2_C	brain:	n/a	n/a
3	MYC	chr12:105379025-105379360	K562	blood:	n/a	n/a
4	CTCF	chr12:105378955-105379289	HepG2	liver:	n/a	n/a
5	CTCF	chr12:105379047-105379248	K562	blood:	n/a	n/a
6	CTCF	chr12:105379040-105379190	HMEC	breast:	n/a	n/a
7	CTCF	chr12:105379040-105379190	HEK293	kidney:	n/a	n/a
8	CTCF	chr12:105378998-105379369	K562	blood:	n/a	n/a
9	SMC3	chr12:105379031-105379366	HepG2	liver:	n/a	n/a
10	CTCF	chr12:105379040-105379190	Caco-2	colon:	n/a	n/a
11	RAD21	chr12:105379004-105379331	HepG2	liver:	n/a	n/a
12	RAD21	chr12:105379048-105379225	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr12:105379020-105379170	GM12865	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105349646..105353787-chr12:105376379..105382982,10	MCF-7	breast:
2	chr12:105351138..105353772-chr12:105378582..105380234,3	MCF-7	breast:

No data

Variant related genes	Relation type
C12orf45	TF binding region
ENSG00000136052	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10778361	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10778363	0.93[ASN][1000 genomes]
rs10861299	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10861302	0.97[ASN][1000 genomes]
rs10861303	0.95[ASN][1000 genomes]
rs10861304	0.94[ASN][1000 genomes]
rs10861308	0.93[ASN][1000 genomes]
rs10861309	0.93[ASN][1000 genomes]
rs10861310	0.92[ASN][1000 genomes]
rs10861311	0.93[ASN][1000 genomes]
rs11112263	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11112284	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112286	0.96[ASN][1000 genomes]
rs11112287	0.96[ASN][1000 genomes]
rs11112296	0.97[ASN][1000 genomes]
rs11112297	0.96[ASN][1000 genomes]
rs11112299	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112306	0.95[ASN][1000 genomes]
rs12581510	0.93[ASN][1000 genomes]
rs12581542	0.92[ASN][1000 genomes]
rs16890	0.95[ASN][1000 genomes]
rs17036612	0.93[ASN][1000 genomes]
rs4281549	0.93[ASN][1000 genomes]
rs4318051	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4331189	0.97[ASN][1000 genomes]
rs4473015	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6539176	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6539180	0.83[AFR][1000 genomes]
rs7134342	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7297572	0.93[ASN][1000 genomes]
rs7302931	0.97[ASN][1000 genomes]
rs7304326	0.94[ASN][1000 genomes]
rs7308025	0.95[ASN][1000 genomes]
rs7308266	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308568	0.93[ASN][1000 genomes]
rs7308574	0.93[ASN][1000 genomes]
rs7309375	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7311995	0.93[ASN][1000 genomes]
rs73387268	0.93[ASN][1000 genomes]
rs7958263	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7970173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer 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	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv869	chr12:105363425-105394904	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10861301	C12orf45	cis	Artery Tibial	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105375200-105379200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:105378000-105379600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:105378400-105379600	Weak transcription	Fetal Kidney	kidney
4	chr12:105379000-105379200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:105379000-105379200	Enhancers	GM12878-XiMat	blood
6	chr12:105379000-105379200	Enhancers	K562	blood
7	chr12:105379000-105379200	Enhancers	NHEK	skin
8	chr12:105379000-105379400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:105379000-105379400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:105379000-105379400	Enhancers	Dnd41	blood

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