Variant report

Variant	rs1485410
Chromosome Location	chr12:30350918-30350919
allele	C/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	FOS	chr12:30350552-30351244	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr12:30350517-30351263	MCF10A-Er-Src	breast:	n/a	n/a
3	KAP1	chr12:30350328-30351137	U2OS	brain:	n/a	n/a
4	SETDB1	chr12:30350554-30351117	U2OS	brain:	n/a	n/a
5	FOS	chr12:30350608-30351000	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:30350575-30351007	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr12:30350583-30350968	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr12:30350523-30351176	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr12:30350646-30350956	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr12:30350602-30351076	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr12:30350640-30350964	MCF10A-Er-Src	breast:	n/a	n/a
12	MAFK	chr12:30350900-30351052	H1-hESC	embryonic stem cell:	n/a	chr12:30351031-30351046
13	STAT3	chr12:30350664-30350955	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30345156..30347893-chr12:30349576..30351701,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257262	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10843647	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11050702	0.81[EUR][1000 genomes]
rs11050703	0.81[EUR][1000 genomes]
rs11050704	0.81[EUR][1000 genomes]
rs11050705	0.81[EUR][1000 genomes]
rs12368455	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12368624	0.81[EUR][1000 genomes]
rs12371944	0.82[EUR][1000 genomes]
rs1351968	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1351974	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1385561	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1485402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1533716	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1533717	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1533718	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1533719	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1554434	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17457272	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1872443	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1879426	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968879	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1973269	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1996701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2200413	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2351219	0.81[EUR][1000 genomes]
rs3946543	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4931289	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300499	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7970388	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7980346	1.00[EUR][1000 genomes]
rs9783442	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv821695	chr12:30287314-30450174	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv516421	chr12:30309076-30411299	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1044929	chr12:30318488-30409475	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1039081	chr12:30320388-30410076	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1050136	chr12:30320549-30415565	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541437	chr12:30320549-30415565	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1050921	chr12:30334940-30409475	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30350000-30351200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr12:30350200-30351000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr12:30350200-30351000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:30350200-30351200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:30350200-30351200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:30350200-30351200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:30350200-30351200	Enhancers	Hela-S3	cervix
8	chr12:30350200-30351200	Enhancers	NH-A	brain
9	chr12:30350400-30351000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:30350400-30351200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:30350400-30351200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:30350400-30351200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:30350400-30351200	Enhancers	Osteobl	bone
14	chr12:30350600-30351000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:30350600-30351200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:30350800-30351000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:30350800-30351000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:30350800-30351200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:30350800-30353800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:30350800-30353800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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