Variant report

Variant	rs2742114
Chromosome Location	chr12:10322817-10322818
allele	A/G
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	MAX	chr12:10322758-10323181	Hela-S3	cervix:	n/a	n/a
2	RCOR1	chr12:10322771-10323303	Hela-S3	cervix:	n/a	n/a
3	BRCA1	chr12:10322710-10323094	Hela-S3	cervix:	n/a	n/a
4	FOS	chr12:10322757-10323154	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr12:10322798-10323076	MCF10A-Er-Src	breast:	n/a	n/a
6	TFAP2A	chr12:10322763-10323310	Hela-S3	cervix:	n/a	chr12:10322996-10323010 chr12:10322994-10323009 chr12:10322998-10323010 chr12:10322998-10323010 chr12:10322998-10323010
7	SP1	chr12:10322806-10323248	A549	lung:	n/a	n/a
8	CHD2	chr12:10322809-10323243	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr12:10322763-10323200	MCF-7	breast:	n/a	chr12:10322985-10322996 chr12:10322985-10322996
10	TFAP2C	chr12:10322768-10323310	Hela-S3	cervix:	n/a	chr12:10322994-10323009
11	STAT3	chr12:10322683-10323130	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr12:10322660-10323149	Hela-S3	cervix:	n/a	n/a
13	PRDM1	chr12:10322637-10323194	Hela-S3	cervix:	n/a	n/a
14	EP300	chr12:10322808-10323226	T-47D	breast:	n/a	n/a
15	CEBPB	chr12:10322769-10323183	A549	lung:	n/a	chr12:10322985-10322996 chr12:10322985-10322996
16	JUND	chr12:10322774-10323131	T-47D	breast:	n/a	n/a
17	EP300	chr12:10322717-10323227	A549	lung:	n/a	n/a
18	FOS	chr12:10322813-10323089	MCF10A-Er-Src	breast:	n/a	n/a
19	TCF7L2	chr12:10322816-10323415	Hela-S3	cervix:	n/a	n/a
20	GTF2F1	chr12:10322775-10323154	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr12:10322734-10323263	MCF-7	breast:	n/a	chr12:10322985-10322996 chr12:10322985-10322996
22	POLR2A	chr12:10321554-10325230	Hela-S3	cervix:	n/a	n/a
23	MYC	chr12:10322776-10323113	MCF10A-Er-Src	breast:	n/a	n/a
24	MYC	chr12:10322780-10323099	MCF10A-Er-Src	breast:	n/a	n/a
25	TBP	chr12:10322701-10323134	Hela-S3	cervix:	n/a	n/a
26	USF2	chr12:10322693-10323093	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr12:10322776-10323144	A549	lung:	n/a	chr12:10322985-10322996 chr12:10322985-10322996
28	CEBPB	chr12:10322711-10323260	Hela-S3	cervix:	n/a	chr12:10322985-10322996 chr12:10322985-10322996
29	STAT3	chr12:10322808-10323096	MCF10A-Er-Src	breast:	n/a	n/a
30	EP300	chr12:10322746-10323167	Hela-S3	cervix:	n/a	n/a
31	RFX5	chr12:10321762-10323173	Hela-S3	cervix:	n/a	n/a
32	FOS	chr12:10322781-10323164	MCF10A-Er-Src	breast:	n/a	n/a
33	SMC3	chr12:10322801-10323148	Hela-S3	cervix:	n/a	n/a
34	STAT3	chr12:10322763-10323088	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
TMEM52B	TF binding region
OLR1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11053653	0.83[ASN][1000 genomes]
rs2010655	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2634159	0.97[ASN][1000 genomes]
rs2634160	0.82[ASN][1000 genomes]
rs2634162	1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs2634164	0.83[AMR][1000 genomes]
rs2742107	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2742108	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2742110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2742112	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2742113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742115	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs3741860	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs9300224	0.91[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10318800-10323200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:10319200-10326200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:10320800-10323200	Weak transcription	Primary B cells from cord blood	blood
4	chr12:10321800-10323000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:10321800-10324800	Weak transcription	NHLF	lung
6	chr12:10321800-10331200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:10322000-10327600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:10322200-10323200	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:10322200-10323400	Enhancers	HMEC	breast
10	chr12:10322200-10324400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:10322400-10323400	Enhancers	NHEK	skin
12	chr12:10322600-10323000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:10322600-10323200	Active TSS	Placenta	Placenta
14	chr12:10322800-10323000	Flanking Active TSS	Hela-S3	cervix
15	chr12:10322800-10323200	Enhancers	A549	lung
16	chr12:10322800-10323200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr12:10322800-10325400	Enhancers	Primary monocytes fromperipheralblood	blood

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