Variant report

Variant	rs558879156
Chromosome Location	chr12:118575659-118575660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:118575154-118576013	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:118575555-118576203	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118540025..118541851-chr12:118573172..118576109,2	MCF-7	breast:
2	chr12:118573812..118576177-chr12:118596570..118599987,3	K562	blood:
3	chr12:118556622..118559418-chr12:118574681..118576805,2	K562	blood:
4	chr12:118573102..118576254-chr12:118808901..118815960,7	MCF-7	breast:
5	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:
6	chr12:118572856..118575962-chr12:118597469..118600285,3	K562	blood:

No data

Variant related genes	Relation type
VSIG10	TF binding region
PEBP1	TF binding region
ENSG00000111707	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000270482	Chromatin interaction
ENSG00000135090	Chromatin interaction
ENSG00000176871	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1054703	chr12:118575000-118638613	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv541611	chr12:118575000-118638613	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118572600-118575800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr12:118572800-118575800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:118574800-118575800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:118574800-118575800	Flanking Active TSS	Liver	Liver
5	chr12:118574800-118576000	Weak transcription	Small Intestine	intestine
6	chr12:118575000-118575800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:118575000-118576000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:118575000-118576000	Flanking Active TSS	Brain Angular Gyrus	brain
9	chr12:118575000-118576000	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
10	chr12:118575000-118576200	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
11	chr12:118575000-118576800	Enhancers	Gastric	stomach
12	chr12:118575000-118577200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:118575000-118577200	Weak transcription	Fetal Thymus	thymus
14	chr12:118575000-118577400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr12:118575000-118585200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:118575200-118575800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:118575200-118575800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:118575200-118575800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:118575200-118575800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr12:118575200-118575800	Enhancers	Fetal Brain Male	brain
21	chr12:118575200-118575800	Enhancers	Fetal Intestine Large	intestine
22	chr12:118575200-118576000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:118575200-118576000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr12:118575200-118576000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr12:118575200-118576000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:118575200-118576000	Enhancers	Stomach Mucosa	stomach
27	chr12:118575200-118576200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:118575200-118576200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:118575200-118576200	Enhancers	Left Ventricle	heart
30	chr12:118575200-118576600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr12:118575200-118577000	Weak transcription	Fetal Kidney	kidney
32	chr12:118575200-118577200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:118575200-118577200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:118575200-118577200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:118575200-118577200	Weak transcription	Aorta	Aorta
36	chr12:118575200-118577200	Enhancers	Placenta	Placenta
37	chr12:118575200-118577200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:118575200-118577200	Weak transcription	Spleen	Spleen
39	chr12:118575200-118577600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:118575200-118579400	Weak transcription	Primary B cells from cord blood	blood
41	chr12:118575200-118585800	Weak transcription	Fetal Heart	heart
42	chr12:118575400-118575800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:118575400-118575800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:118575400-118575800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr12:118575400-118575800	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
46	chr12:118575400-118575800	Weak transcription	Fetal Brain Female	brain
47	chr12:118575400-118575800	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:118575400-118575800	Weak transcription	Lung	lung
49	chr12:118575400-118575800	Weak transcription	A549	lung
50	chr12:118575400-118575800	Weak transcription	HUVEC	blood vessel

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