Variant report

Variant	rs546185109
Chromosome Location	chr12:105744104-105744105
allele	C/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	EGR1	chr12:105744008-105744216	K562	blood:	n/a	chr12:105744101-105744112 chr12:105744101-105744112 chr12:105744100-105744114

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105742172..105744127-chr12:105746507..105748716,2	K562	blood:

Variant related genes	Relation type
C12orf75	TF binding region
ENSG00000235162	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899500	chr12:105742674-105803028	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105725600-105747200	Weak transcription	Gastric	stomach
2	chr12:105729800-105749400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:105730600-105755400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:105734800-105750200	Weak transcription	Primary T cells from cord blood	blood
5	chr12:105734800-105750800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:105734800-105776600	Weak transcription	Esophagus	oesophagus
7	chr12:105735000-105776600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:105735200-105750800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:105735400-105756800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:105735600-105745400	Weak transcription	Fetal Thymus	thymus
11	chr12:105735600-105746200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:105735600-105749200	Weak transcription	HMEC	breast
13	chr12:105735600-105750600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:105735600-105753800	Weak transcription	Fetal Stomach	stomach
15	chr12:105735600-105766800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:105735600-105776600	Weak transcription	Fetal Intestine Small	intestine
17	chr12:105736200-105745400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:105736200-105749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:105738000-105746000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:105738000-105752000	Weak transcription	Spleen	Spleen
21	chr12:105738200-105745400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:105738200-105745400	Weak transcription	Psoas Muscle	Psoas
23	chr12:105738200-105745800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:105738200-105746000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:105738200-105746400	Weak transcription	NH-A	brain
26	chr12:105738200-105750600	Weak transcription	Primary B cells from cord blood	blood
27	chr12:105739000-105745600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:105740800-105744600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:105741400-105746000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:105741800-105744600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:105741800-105750800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:105742000-105745400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr12:105742400-105744600	Genic enhancers	Dnd41	blood
34	chr12:105742600-105744600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:105742800-105744400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:105742800-105744400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:105742800-105744400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:105743200-105744200	Weak transcription	NHLF	lung
39	chr12:105743200-105745400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:105743200-105746400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:105743400-105745200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:105743400-105746000	Weak transcription	Osteobl	bone
43	chr12:105743400-105746200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:105743400-105746400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:105743800-105744200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:105743800-105744200	Enhancers	GM12878-XiMat	blood
47	chr12:105743800-105744400	Active TSS	Aorta	Aorta
48	chr12:105743800-105744400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
49	chr12:105743800-105745400	Weak transcription	Pancreas	Pancrea
50	chr12:105743800-105747200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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