Variant report

Variant	rs12630172
Chromosome Location	chr3:138662552-138662553
allele	G/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	ZMIZ1	chr3:138662552-138662782	K562	blood:	n/a	n/a
2	MAZ	chr3:138661821-138662997	K562	blood:	n/a	n/a
3	EP300	chr3:138662509-138663158	K562	blood:	n/a	chr3:138662885-138662892
4	UBTF	chr3:138661738-138664476	K562	blood:	n/a	n/a
5	POLR2A	chr3:138661830-138663655	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr3:138662212-138663059	SK-N-SH	brain:	n/a	n/a
7	SMC3	chr3:138662531-138662630	K562	blood:	n/a	n/a
8	MAFK	chr3:138662537-138662938	K562	blood:	n/a	n/a
9	POLR2A	chr3:138661932-138664635	H1-neurons	neurons:	n/a	n/a
10	SUZ12	chr3:138662343-138670118	NT2-D1	testis:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:138552259..138555153-chr3:138660631..138662853,2	K562	blood:
2	chr3:138661376..138665068-chr3:139062620..139064700,3	K562	blood:
3	chr3:138661994..138662559-chr3:138698351..138698972,2	K562	blood:

Variant related genes	Relation type
ENSG00000244578	TF binding region
C3orf72	TF binding region
ENSG00000175110	Chromatin interaction
ENSG00000051382	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1482976	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2291252	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57383887	1.00[EUR][1000 genomes]
rs59540955	1.00[EUR][1000 genomes]
rs72976914	1.00[EUR][1000 genomes]
rs72976918	1.00[EUR][1000 genomes]
rs750321	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv877540	chr3:138645013-138670695	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv877541	chr3:138645013-138673922	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv877542	chr3:138645013-138750904	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138655800-138662800	Weak transcription	Hela-S3	cervix
2	chr3:138661400-138663200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:138661600-138663000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
4	chr3:138661800-138663800	Active TSS	Ovary	ovary
5	chr3:138662000-138663200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr3:138662000-138663800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr3:138662000-138664000	Active TSS	K562	blood
8	chr3:138662200-138662600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:138662200-138662800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr3:138662200-138663000	Bivalent Enhancer	Brain Anterior Caudate	brain
11	chr3:138662200-138663200	Weak transcription	Right Atrium	heart
12	chr3:138662200-138663600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:138662200-138664000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:138662400-138662600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:138662400-138662600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
16	chr3:138662400-138662600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr3:138662400-138662800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr3:138662400-138662800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:138662400-138663000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr3:138662400-138663200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
21	chr3:138662400-138663600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
22	chr3:138662400-138663800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:138662400-138663800	Weak transcription	Pancreas	Pancrea
24	chr3:138662400-138666600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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