Variant report

Variant	rs214676
Chromosome Location	chr12:47675705-47675706
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	chr12:47675431-47675962	K562	blood:	n/a	n/a
2	FOS	chr12:47675436-47675705	MCF10A-Er-Src	breast:	n/a	chr12:47675599-47675610 chr12:47675602-47675612 chr12:47675602-47675612 chr12:47675602-47675612 chr12:47675602-47675612
3	POLR2A	chr12:47675458-47675923	U87	brain:	n/a	n/a
4	STAT3	chr12:47675505-47675705	MCF10A-Er-Src	breast:	n/a	n/a
5	CHD2	chr12:47675564-47676053	K562	blood:	n/a	n/a
6	CTCF	chr12:47675560-47675710	HEEpiC	esophagus:	n/a	n/a
7	RCOR1	chr12:47675573-47675999	K562	blood:	n/a	n/a
8	GATA1	chr12:47674470-47676267	PBDE	blood:	n/a	chr12:47675850-47675860 chr12:47675850-47675857 chr12:47675601-47675610
9	FOS	chr12:47675506-47675758	MCF10A-Er-Src	breast:	n/a	chr12:47675599-47675610 chr12:47675602-47675612 chr12:47675602-47675612 chr12:47675602-47675612 chr12:47675602-47675612
10	POLR2A	chr12:47675458-47675810	U87	brain:	n/a	n/a
11	BHLHE40	chr12:47675474-47675876	K562	blood:	n/a	n/a
12	JUND	chr12:47675515-47676051	K562	blood:	n/a	chr12:47675599-47675610 chr12:47675602-47675612 chr12:47675602-47675612 chr12:47675602-47675612 chr12:47675602-47675612 chr12:47675974-47675986
13	FOS	chr12:47675542-47675742	MCF10A-Er-Src	breast:	n/a	chr12:47675599-47675610 chr12:47675602-47675612 chr12:47675602-47675612 chr12:47675602-47675612 chr12:47675602-47675612
14	ZNF384	chr12:47675611-47675973	K562	blood:	n/a	n/a
15	POLR2A	chr12:47675400-47676707	U87	brain:	n/a	n/a
16	TAL1	chr12:47675663-47676001	K562	blood:	n/a	n/a
17	TBP	chr12:47675493-47675927	K562	blood:	n/a	n/a
18	CBX3	chr12:47675394-47675995	K562	blood:	n/a	n/a
19	MAZ	chr12:47675598-47676309	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47674879..47677351-chr12:47677477..47680318,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMIGO2-5	chr12:47675474-47675902	NONHSAT027915

Variant related genes	Relation type
ENSG00000257925	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs214673	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs214677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214678	1.00[CEU][hapmap];0.92[JPT][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs214679	1.00[CEU][hapmap];0.83[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs214680	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs214682	0.95[AFR][1000 genomes]
rs855184	0.83[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs855185	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47668600-47675800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:47671800-47676200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:47672000-47676000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:47672000-47677800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr12:47672800-47676000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:47672800-47676800	Enhancers	HSMMtube	muscle
7	chr12:47672800-47680200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:47673000-47676200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:47673400-47675800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:47674000-47675800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:47674000-47676200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:47674000-47677000	Weak transcription	Hela-S3	cervix
13	chr12:47674200-47676000	Enhancers	HMEC	breast
14	chr12:47674200-47676800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr12:47674200-47677800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr12:47674400-47677000	Enhancers	HSMM	muscle
17	chr12:47674400-47677000	Enhancers	K562	blood
18	chr12:47674400-47677000	Enhancers	NH-A	brain
19	chr12:47674600-47676400	Genic enhancers	A549	lung
20	chr12:47674800-47676800	Enhancers	Fetal Lung	lung
21	chr12:47674800-47677000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:47674800-47677000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:47674800-47677000	Enhancers	Osteobl	bone
24	chr12:47675000-47676000	Enhancers	NHEK	skin
25	chr12:47675200-47676400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr12:47675200-47676800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:47675200-47677600	Enhancers	Primary T cells from cord blood	blood
28	chr12:47675400-47676400	Enhancers	NHDF-Ad	bronchial
29	chr12:47675400-47677000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr12:47675600-47676000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:47675600-47676000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:47675600-47676200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:47675600-47676600	Enhancers	Primary T cells fromperipheralblood	blood
34	chr12:47675600-47676800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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