Variant report

Variant	rs555094601
Chromosome Location	chr12:122505827-122505828
allele	G/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	CEBPB	chr12:122505539-122505831	A549	lung:	n/a	chr12:122505660-122505671
2	FOXM1	chr12:122505802-122506401	GM12878	blood:	n/a	n/a
3	FOXM1	chr12:122505797-122506345	GM12878	blood:	n/a	n/a
4	RCOR1	chr12:122505591-122506419	IMR90	lung:	n/a	n/a
5	CEBPB	chr12:122505477-122506163	IMR90	lung:	n/a	chr12:122505660-122505671
6	CEBPB	chr12:122505471-122505837	MCF-7	breast:	n/a	chr12:122505660-122505671
7	PAX5	chr12:122505735-122506365	GM12878	blood:	n/a	chr12:122506110-122506119 chr12:122506201-122506210
8	CTCF	chr12:122505780-122505930	HCPEpiC	choroid plexus:	n/a	n/a
9	RUNX3	chr12:122505722-122506396	GM12878	blood:	n/a	n/a
10	EBF1	chr12:122505811-122506305	GM12878	blood:	n/a	chr12:122506087-122506098
11	MTA3	chr12:122505753-122506310	GM12878	blood:	n/a	n/a
12	CEBPB	chr12:122505512-122505852	K562	blood:	n/a	chr12:122505660-122505671
13	RUNX3	chr12:122505735-122506289	GM12878	blood:	n/a	n/a
14	EBF1	chr12:122505827-122506302	GM12878	blood:	n/a	chr12:122506087-122506098

Variant related genes	Relation type
ENSG00000256546	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv3427762	chr12:122504786-122506526	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	esv3358948	chr12:122504903-122506646	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	esv3443196	chr12:122504908-122506625	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	esv3511393	chr12:122504909-122506586	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	esv3503308	chr12:122505042-122506547	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
11	esv3503319	chr12:122505042-122506547	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
12	esv3511394	chr12:122505045-122506543	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122472000-122507200	Weak transcription	Fetal Brain Male	brain
2	chr12:122500200-122506000	Weak transcription	Dnd41	blood
3	chr12:122500800-122507800	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:122500800-122510000	Weak transcription	Brain Germinal Matrix	brain
5	chr12:122501600-122509800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:122502200-122509800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:122502600-122506000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:122502600-122510200	Weak transcription	Psoas Muscle	Psoas
9	chr12:122502600-122516200	Weak transcription	Gastric	stomach
10	chr12:122503000-122510200	Weak transcription	Brain Angular Gyrus	brain
11	chr12:122503200-122510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:122503200-122510000	Weak transcription	Hela-S3	cervix
13	chr12:122503200-122510200	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:122503200-122510200	Weak transcription	Brain Substantia Nigra	brain
15	chr12:122503400-122507400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:122503400-122509800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:122503400-122510000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:122503400-122510000	Weak transcription	HSMM	muscle
19	chr12:122503400-122510200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:122503400-122510200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:122503400-122510200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:122503400-122510200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:122503400-122510200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:122503400-122510200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:122503400-122510400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:122503400-122511200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:122503400-122514800	Weak transcription	Fetal Intestine Large	intestine
28	chr12:122503400-122516000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:122503400-122516000	Weak transcription	Esophagus	oesophagus
30	chr12:122503600-122506000	Weak transcription	Left Ventricle	heart
31	chr12:122503600-122506000	Enhancers	Pancreas	Pancrea
32	chr12:122503600-122509800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:122503600-122509800	Weak transcription	Right Ventricle	heart
34	chr12:122503600-122510000	Weak transcription	HUVEC	blood vessel
35	chr12:122503600-122510000	Weak transcription	NHDF-Ad	bronchial
36	chr12:122503600-122510200	Weak transcription	Placenta	Placenta
37	chr12:122503600-122510400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:122503600-122515800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:122503800-122508400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:122504000-122506800	Enhancers	Colon Smooth Muscle	Colon
41	chr12:122504200-122510000	Weak transcription	Fetal Heart	heart
42	chr12:122504200-122510200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:122504400-122507400	Enhancers	Fetal Thymus	thymus
44	chr12:122504800-122507400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:122504800-122510000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:122504800-122510000	Weak transcription	HepG2	liver
47	chr12:122505200-122506000	Enhancers	Primary B cells from cord blood	blood
48	chr12:122505200-122506600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr12:122505200-122507400	Enhancers	Ovary	ovary
50	chr12:122505400-122506000	Enhancers	Thymus	Thymus

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