Variant report

Variant	rs546137948
Chromosome Location	chr12:118576212-118576213
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	POLR2A	chr12:118576027-118578876	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:118556622..118559418-chr12:118574681..118576805,2	K562	blood:
2	chr12:118573102..118576254-chr12:118808901..118815960,7	MCF-7	breast:
3	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:

Variant related genes	Relation type
VSIG10	TF binding region
PEBP1	TF binding region
ENSG00000135090	Chromatin interaction
ENSG00000111707	Chromatin interaction
ENSG00000176871	Chromatin interaction
ENSG00000270482	Chromatin interaction
ENSG00000176834	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	chr12:118575000-118576800	Enhancers	Gastric	stomach
2	chr12:118575000-118577200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:118575000-118577200	Weak transcription	Fetal Thymus	thymus
4	chr12:118575000-118577400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr12:118575000-118585200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:118575200-118576600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:118575200-118577000	Weak transcription	Fetal Kidney	kidney
8	chr12:118575200-118577200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:118575200-118577200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:118575200-118577200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:118575200-118577200	Weak transcription	Aorta	Aorta
12	chr12:118575200-118577200	Enhancers	Placenta	Placenta
13	chr12:118575200-118577200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:118575200-118577200	Weak transcription	Spleen	Spleen
15	chr12:118575200-118577600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:118575200-118579400	Weak transcription	Primary B cells from cord blood	blood
17	chr12:118575200-118585800	Weak transcription	Fetal Heart	heart
18	chr12:118575400-118576400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:118575400-118576400	Weak transcription	Primary T cells from cord blood	blood
20	chr12:118575400-118576400	Weak transcription	HSMM	muscle
21	chr12:118575400-118576600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:118575400-118576600	Weak transcription	Brain Germinal Matrix	brain
23	chr12:118575400-118576600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr12:118575400-118576600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:118575400-118576800	Genic enhancers	Fetal Intestine Small	intestine
26	chr12:118575400-118577000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:118575400-118577000	Enhancers	Brain Substantia Nigra	brain
28	chr12:118575400-118577000	Enhancers	Pancreas	Pancrea
29	chr12:118575400-118577000	Weak transcription	Thymus	Thymus
30	chr12:118575400-118577200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:118575400-118577200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:118575400-118577200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:118575400-118577200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:118575400-118577200	Enhancers	Brain Hippocampus Middle	brain
35	chr12:118575400-118577200	Weak transcription	Esophagus	oesophagus
36	chr12:118575400-118577200	Weak transcription	Fetal Lung	lung
37	chr12:118575400-118577200	Weak transcription	Psoas Muscle	Psoas
38	chr12:118575400-118577200	Weak transcription	Right Ventricle	heart
39	chr12:118575400-118577200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:118575400-118577200	Weak transcription	HSMMtube	muscle
41	chr12:118575400-118577200	Weak transcription	NH-A	brain
42	chr12:118575400-118577200	Weak transcription	NHDF-Ad	bronchial
43	chr12:118575400-118577200	Weak transcription	NHLF	lung
44	chr12:118575400-118577400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:118575400-118577400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:118575400-118577600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:118575400-118577600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:118575400-118577800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:118575400-118577800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
50	chr12:118575400-118578200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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