Variant report

Variant	rs214677
Chromosome Location	chr12:47676097-47676098
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	MAFK	chr12:47676085-47676287	K562	blood:	n/a	chr12:47676170-47676180 chr12:47676171-47676180
2	MYC	chr12:47675707-47676232	K562	blood:	n/a	n/a
3	MAFF	chr12:47676044-47676569	K562	blood:	n/a	n/a
4	CEBPB	chr12:47676071-47676282	IMR90	lung:	n/a	chr12:47676077-47676089
5	POLR2A	chr12:47675947-47676582	U87	brain:	n/a	n/a
6	GATA1	chr12:47674470-47676267	PBDE	blood:	n/a	chr12:47675850-47675860 chr12:47675850-47675857 chr12:47675601-47675610
7	CTCF	chr12:47676080-47676230	HMF	breast:	n/a	n/a
8	POLR2A	chr12:47675400-47676707	U87	brain:	n/a	n/a
9	CTCF	chr12:47676080-47676230	HPAF	blood vessel:	n/a	n/a
10	MAZ	chr12:47675598-47676309	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47675905..47678814-chr12:47683290..47684985,2	K562	blood:
2	chr12:47674879..47677351-chr12:47677477..47680318,3	K562	blood:

Variant related genes	Relation type
ENSG00000257925	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

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]
rs214676	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[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs214679	1.00[CEU][hapmap];0.83[JPT][hapmap];0.85[AFR][1000 genomes];0.99[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	0.82[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[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];0.99[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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs214677	TMEM106C	cis	parietal	SCAN
rs214677	FAM113B	cis	parietal	SCAN
rs214677	FKBP11	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47671800-47676200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:47672000-47677800	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr12:47672800-47676800	Enhancers	HSMMtube	muscle
4	chr12:47672800-47680200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:47673000-47676200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:47674000-47676200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:47674000-47677000	Weak transcription	Hela-S3	cervix
8	chr12:47674200-47676800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:47674200-47677800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:47674400-47677000	Enhancers	HSMM	muscle
11	chr12:47674400-47677000	Enhancers	K562	blood
12	chr12:47674400-47677000	Enhancers	NH-A	brain
13	chr12:47674600-47676400	Genic enhancers	A549	lung
14	chr12:47674800-47676800	Enhancers	Fetal Lung	lung
15	chr12:47674800-47677000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:47674800-47677000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:47674800-47677000	Enhancers	Osteobl	bone
18	chr12:47675200-47676400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:47675200-47676800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:47675200-47677600	Enhancers	Primary T cells from cord blood	blood
21	chr12:47675400-47676400	Enhancers	NHDF-Ad	bronchial
22	chr12:47675400-47677000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr12:47675600-47676200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:47675600-47676600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr12:47675600-47676800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:47675800-47676800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:47676000-47676200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr12:47676000-47676400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:47676000-47676600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:47676000-47677000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:47676000-47678800	Weak transcription	NHEK	skin

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