Variant report

Variant	rs548654596
Chromosome Location	chr12:118575352-118575353
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:118573396-118575412	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:118575154-118576013	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:118573525-118575356	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118540025..118541851-chr12:118573172..118576109,2	MCF-7	breast:
2	chr12:118498119..118500024-chr12:118572981..118575568,2	K562	blood:
3	chr12:118540506..118543698-chr12:118572832..118575450,7	MCF-7	breast:
4	chr12:118573812..118576177-chr12:118596570..118599987,3	K562	blood:
5	chr12:118556622..118559418-chr12:118574681..118576805,2	K562	blood:
6	chr12:118573102..118576254-chr12:118808901..118815960,7	MCF-7	breast:
7	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:
8	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
ENSG00000270482	Chromatin interaction
ENSG00000135090	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000176871	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	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	esv3406515	chr12:118572594-118575442	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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
4	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	chr12:118572600-118575400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:118572600-118575400	Active TSS	A549	lung
3	chr12:118572600-118575800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr12:118572800-118575400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr12:118572800-118575400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:118572800-118575400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr12:118572800-118575400	Active TSS	HSMM	muscle
8	chr12:118572800-118575400	Active TSS	NHDF-Ad	bronchial
9	chr12:118572800-118575400	Active TSS	NHLF	lung
10	chr12:118572800-118575800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:118573000-118575400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr12:118573000-118575400	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr12:118573200-118575400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr12:118573200-118575400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:118573200-118575400	Active TSS	Esophagus	oesophagus
16	chr12:118573200-118575400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr12:118573200-118575400	Active TSS	Right Atrium	heart
18	chr12:118573400-118575400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:118573400-118575400	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr12:118573400-118575400	Active TSS	NH-A	brain
21	chr12:118574000-118575400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr12:118574400-118575400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr12:118574400-118575400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr12:118574400-118575400	Active TSS	Brain Germinal Matrix	brain
25	chr12:118574600-118575400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr12:118574600-118575400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:118574600-118575400	Flanking Active TSS	Dnd41	blood
28	chr12:118574800-118575400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:118574800-118575400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr12:118574800-118575400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:118574800-118575400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr12:118574800-118575400	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr12:118574800-118575400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr12:118574800-118575400	Flanking Active TSS	Fetal Lung	lung
35	chr12:118574800-118575400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr12:118574800-118575400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr12:118574800-118575400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr12:118574800-118575400	Flanking Active TSS	Hela-S3	cervix
39	chr12:118574800-118575400	Flanking Active TSS	HUVEC	blood vessel
40	chr12:118574800-118575400	Flanking Active TSS	Osteobl	bone
41	chr12:118574800-118575600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:118574800-118575600	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr12:118574800-118575800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:118574800-118575800	Flanking Active TSS	Liver	Liver
45	chr12:118574800-118576000	Weak transcription	Small Intestine	intestine
46	chr12:118575000-118575400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:118575000-118575400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
48	chr12:118575000-118575400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:118575000-118575400	Enhancers	Primary B cells from peripheral blood	blood
50	chr12:118575000-118575400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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