Variant report

Variant	rs12227725
Chromosome Location	chr12:10285052-10285053
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	TFAP2C	chr12:10284816-10285427	Hela-S3	cervix:	n/a	chr12:10285029-10285044
2	RCOR1	chr12:10284937-10285156	Hela-S3	cervix:	n/a	n/a
3	MAX	chr12:10284850-10285231	MCF-7	breast:	n/a	n/a
4	FOSL2	chr12:10284804-10285181	A549	lung:	n/a	n/a
5	MYC	chr12:10284819-10285178	Hela-S3	cervix:	n/a	n/a
6	MAFK	chr12:10284945-10285126	K562	blood:	n/a	n/a
7	FOS	chr12:10284815-10285222	MCF10A-Er-Src	breast:	n/a	n/a
8	MAFK	chr12:10284865-10285172	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:10284943-10285135	MCF10A-Er-Src	breast:	n/a	n/a
10	RFX5	chr12:10284906-10285177	Hela-S3	cervix:	n/a	n/a
11	FOS	chr12:10284823-10285205	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr12:10284799-10285206	MCF10A-Er-Src	breast:	n/a	n/a
13	FOSL2	chr12:10284840-10285207	MCF-7	breast:	n/a	n/a
14	CEBPB	chr12:10284923-10285161	Hela-S3	cervix:	n/a	n/a
15	TCF7L2	chr12:10284830-10285171	Hela-S3	cervix:	n/a	n/a
16	MAX	chr12:10284768-10285270	Hela-S3	cervix:	n/a	n/a
17	FOS	chr12:10284881-10285247	Hela-S3	cervix:	n/a	n/a
18	FOS	chr12:10284843-10285205	MCF10A-Er-Src	breast:	n/a	n/a
19	TFAP2A	chr12:10284822-10285475	Hela-S3	cervix:	n/a	chr12:10285027-10285042
20	FOS	chr12:10284799-10285206	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr12:10284872-10285170	MCF10A-Er-Src	breast:	n/a	n/a
22	MAX	chr12:10284919-10285173	Hela-S3	cervix:	n/a	n/a
23	BACH1	chr12:10284860-10285172	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAFF	chr12:10284894-10285119	K562	blood:	n/a	n/a
25	STAT3	chr12:10284896-10285099	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr12:10284900-10285178	MCF10A-Er-Src	breast:	n/a	n/a
27	MYC	chr12:10284801-10285222	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr12:10284853-10285161	MCF10A-Er-Src	breast:	n/a	n/a
29	TCF7L2	chr12:10284903-10285122	PANC-1	pancreas:	n/a	n/a
30	HDAC2	chr12:10284835-10285258	MCF-7	breast:	n/a	n/a
31	REST	chr12:10284887-10285077	Hela-S3	cervix:	n/a	n/a
32	MYC	chr12:10284757-10285223	MCF10A-Er-Src	breast:	n/a	n/a
33	GTF2F1	chr12:10284958-10285212	Hela-S3	cervix:	n/a	n/a
34	SETDB1	chr12:10284749-10285178	U2OS	brain:	n/a	n/a
35	SMC3	chr12:10284921-10285142	Hela-S3	cervix:	n/a	n/a
36	TCF7L2	chr12:10284899-10285347	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
CLEC7A	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1001449	1.00[CEU][hapmap]
rs11053590	1.00[CEU][hapmap]
rs11053607	1.00[CEU][hapmap]
rs11053615	1.00[CEU][hapmap]
rs11053623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11053627	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11053628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7309870	1.00[CEU][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10281200-10285200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:10283000-10285600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:10283000-10286200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:10283400-10286000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:10283600-10285800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:10284000-10285400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:10284200-10285200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:10284200-10285200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:10284200-10285200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:10284200-10285800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr12:10284200-10285800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr12:10284600-10285200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:10284600-10285600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:10284600-10285800	Enhancers	A549	lung
15	chr12:10284800-10285200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:10284800-10285200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr12:10284800-10285400	Enhancers	Primary hematopoietic stem cells	blood
18	chr12:10284800-10286200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:10284800-10286400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:10284800-10286400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:10284800-10286600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:10285000-10285200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:10285000-10285200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr12:10285000-10285200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:10285000-10285200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:10285000-10285400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr12:10285000-10285400	Enhancers	HMEC	breast
28	chr12:10285000-10285600	Enhancers	Hela-S3	cervix
29	chr12:10285000-10285600	Enhancers	NHEK	skin
30	chr12:10285000-10286400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr12:10285000-10286400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:10285000-10287600	Weak transcription	Placenta	Placenta

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