Variant report

Variant	rs543818295
Chromosome Location	chr12:50098311-50098312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:50096226-50101443	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:50096279-50098500	GM12892	blood:	n/a	n/a
3	POLR2A	chr12:50096336-50098350	GM12892	blood:	n/a	n/a
4	POLR2A	chr12:50098282-50098374	HepG2	liver:	n/a	n/a
5	WRNIP1	chr12:50096365-50098347	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:50098264-50101331	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:50096293-50101579	GM12892	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50066175..50068343-chr12:50098186..50100084,3	K562	blood:
2	chr12:50097894..50103527-chr12:50133840..50136991,8	K562	blood:
3	chr12:50097260..50102816-chr12:50134110..50137683,7	MCF-7	breast:
4	chr12:50096479..50103459-chr12:50133671..50138995,13	K562	blood:
5	chr12:50090621..50092463-chr12:50096171..50099106,4	K562	blood:
6	chr12:50046987..50048509-chr12:50096714..50099634,2	MCF-7	breast:
7	chr12:50097487..50099802-chr12:50102070..50104731,2	MCF-7	breast:
8	chr12:50030096..50031620-chr12:50098053..50100188,2	MCF-7	breast:
9	chr12:50039220..50042213-chr12:50096453..50098982,2	MCF-7	breast:
10	chr12:50035440..50045362-chr12:50096806..50104789,13	K562	blood:
11	chr12:50092701..50095008-chr12:50097299..50100800,3	K562	blood:
12	chr12:50067389..50069514-chr12:50096557..50099355,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMBIM6	TF binding region
ENSG00000257570	TF binding region
ENSG00000257570	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000110844	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	esv3348146	chr12:50097129-50098626	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3487030	chr12:50097166-50098613	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3487019	chr12:50097200-50098558	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3487041	chr12:50097200-50098558	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50093200-50098600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:50093200-50098800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:50093200-50099200	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:50093200-50099600	Weak transcription	Fetal Heart	heart
5	chr12:50093200-50100200	Weak transcription	Esophagus	oesophagus
6	chr12:50093400-50098600	Weak transcription	Right Ventricle	heart
7	chr12:50093400-50098800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:50093400-50099200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:50093400-50099200	Weak transcription	Colonic Mucosa	Colon
10	chr12:50093400-50099800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:50093800-50099200	Enhancers	Primary B cells from cord blood	blood
12	chr12:50094800-50099400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:50095600-50099400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:50095800-50098800	Enhancers	Fetal Muscle Leg	muscle
15	chr12:50095800-50099000	Enhancers	Fetal Lung	lung
16	chr12:50095800-50099000	Enhancers	Left Ventricle	heart
17	chr12:50095800-50099200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:50095800-50099400	Enhancers	Fetal Thymus	thymus
19	chr12:50095800-50100000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:50096000-50099200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:50096400-50098800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:50096400-50098800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:50096400-50098800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:50096400-50099000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:50096400-50099000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr12:50096400-50099000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:50096400-50099000	Enhancers	Brain Substantia Nigra	brain
28	chr12:50096400-50099000	Enhancers	Placenta	Placenta
29	chr12:50096400-50099000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr12:50096400-50099200	Enhancers	Fetal Stomach	stomach
31	chr12:50096400-50099200	Enhancers	Dnd41	blood
32	chr12:50096400-50099600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:50096400-50100000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:50096600-50098800	Weak transcription	Lung	lung
35	chr12:50096600-50099000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:50096600-50099600	Enhancers	Primary T cells fromperipheralblood	blood
37	chr12:50096800-50098800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr12:50096800-50099000	Enhancers	Primary hematopoietic stem cells	blood
39	chr12:50096800-50099000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr12:50096800-50099200	Enhancers	HMEC	breast
41	chr12:50096800-50099400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr12:50097000-50098600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:50097000-50098800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr12:50097000-50099200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr12:50097000-50099600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:50097000-50099800	Enhancers	K562	blood
47	chr12:50097200-50098600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:50097200-50099000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:50097200-50099400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr12:50097400-50098600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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