Variant report

Variant	rs16949417
Chromosome Location	chr12:120027065-120027066
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	FOS	chr12:120026957-120027253	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr12:120026908-120027258	H1-hESC	embryonic stem cell:	n/a	chr12:120027077-120027088 chr12:120027062-120027079 chr12:120027067-120027078 chr12:120027076-120027089
3	RAD21	chr12:120026945-120027185	SK-N-SH_RA	brain:	n/a	n/a
4	MYC	chr12:120026978-120027230	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr12:120026988-120027223	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:120026913-120027249	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr12:120026998-120027222	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr12:120026937-120027257	MCF10A-Er-Src	breast:	n/a	n/a
9	CEBPB	chr12:120026928-120027226	Hela-S3	cervix:	n/a	chr12:120027077-120027088 chr12:120027062-120027079 chr12:120027067-120027078 chr12:120027076-120027089
10	STAT3	chr12:120026983-120027257	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr12:120026914-120027280	MCF10A-Er-Src	breast:	n/a	n/a
12	CEBPB	chr12:120026916-120027231	IMR90	lung:	n/a	chr12:120027077-120027088 chr12:120027062-120027079 chr12:120027067-120027078 chr12:120027076-120027089
13	POLR2A	chr12:120026849-120027364	U87	brain:	n/a	n/a
14	CEBPB	chr12:120026905-120027242	K562	blood:	n/a	chr12:120027077-120027088 chr12:120027062-120027079 chr12:120027067-120027078 chr12:120027076-120027089
15	STAT3	chr12:120027010-120027231	MCF10A-Er-Src	breast:	n/a	n/a
16	CTCF	chr12:120026964-120027245	GM12878	blood:	n/a	n/a
17	CEBPB	chr12:120026912-120027243	HepG2	liver:	n/a	chr12:120027077-120027088 chr12:120027062-120027079 chr12:120027067-120027078 chr12:120027076-120027089
18	STAT3	chr12:120026983-120027199	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr12:120026855-120027350	U87	brain:	n/a	n/a
20	CTCF	chr12:120027049-120027126	Kidney_OC	kidney:	n/a	n/a
21	CEBPB	chr12:120026946-120027240	A549	lung:	n/a	chr12:120027077-120027088 chr12:120027062-120027079 chr12:120027067-120027078 chr12:120027076-120027089
22	CEBPB	chr12:120026990-120027313	MCF-7	breast:	n/a	chr12:120027077-120027088 chr12:120027062-120027079 chr12:120027067-120027078 chr12:120027076-120027089

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120020665..120022767-chr12:120026429..120028968,2	MCF-7	breast:

Variant related genes	Relation type
TMEM233	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16949631	1.00[JPT][hapmap]
rs7311108	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv832529	chr12:119863378-120071646	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120013400-120030800	Weak transcription	Psoas Muscle	Psoas
2	chr12:120026200-120028200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:120026200-120028200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:120026600-120027800	Enhancers	Liver	Liver
5	chr12:120026600-120027800	Enhancers	HSMM	muscle
6	chr12:120026800-120027200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
7	chr12:120026800-120027200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr12:120026800-120027400	Enhancers	Osteobl	bone
9	chr12:120027000-120027200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr12:120027000-120027200	Enhancers	Muscle Satellite Cultured Cells	--

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