Variant report

Variant	rs11273416
Chromosome Location	chr12:51744754-51744755
allele	-/GGTTGGGCTACAT/TGGTTGGGCTACA
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	chr12:51744670-51744779	K562	blood:	n/a	n/a
2	ZNF263	chr12:51744513-51744803	HEK293-T-REx	kidney:	n/a	chr12:51744627-51744648

No.	Distal block	Cell Line	Cell type
1	chr12:51157742..51160263-chr12:51742704..51744822,2	K562	blood:
2	chr12:51734941..51739498-chr12:51744423..51748065,5	K562	blood:
3	chr12:51744372..51748268-chr12:51756905..51759729,4	K562	blood:
4	chr12:51441280..51444117-chr12:51744506..51748458,5	MCF-7	breast:
5	chr12:51631532..51634032-chr12:51744589..51747276,3	MCF-7	breast:

Variant related genes	Relation type
CELA1	TF binding region
ENSG00000050426	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000123268	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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3325259	chr12:51744741-51746212	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51731800-51750600	Weak transcription	Spleen	Spleen
2	chr12:51735400-51745400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:51735400-51745400	Weak transcription	Brain Substantia Nigra	brain
4	chr12:51735400-51745800	Weak transcription	Fetal Intestine Small	intestine
5	chr12:51735400-51746800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:51735400-51747400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:51735400-51747400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:51735400-51747400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:51735400-51747600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:51735400-51747800	Weak transcription	NHLF	lung
11	chr12:51735400-51750200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:51735400-51750600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:51735400-51750600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:51735400-51756000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:51735600-51746800	Weak transcription	Primary T cells from cord blood	blood
16	chr12:51735600-51750600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:51735600-51761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:51735800-51747400	Weak transcription	Dnd41	blood
19	chr12:51736400-51765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:51739400-51748400	Weak transcription	Gastric	stomach
21	chr12:51739400-51754200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:51739600-51744800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:51739600-51750600	Weak transcription	GM12878-XiMat	blood
24	chr12:51740000-51747400	Weak transcription	NHEK	skin
25	chr12:51740200-51745800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:51740200-51746800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:51740400-51747400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:51740400-51747400	Weak transcription	Thymus	Thymus
29	chr12:51740400-51747800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:51740600-51747600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:51740600-51751000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:51740800-51745200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:51740800-51753200	Weak transcription	NHDF-Ad	bronchial
34	chr12:51741000-51745400	Weak transcription	Pancreas	Pancrea
35	chr12:51741000-51745600	Weak transcription	Fetal Thymus	thymus
36	chr12:51741000-51747800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr12:51742200-51745800	Weak transcription	K562	blood
38	chr12:51742400-51746000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:51742400-51749600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr12:51743200-51745000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:51743200-51750600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:51743400-51745400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:51743400-51745600	Weak transcription	Osteobl	bone
44	chr12:51743400-51746200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:51743400-51746800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:51743400-51751600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:51744000-51746400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:51744000-51748000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:51744200-51745400	Weak transcription	Placenta	Placenta
50	chr12:51744200-51761400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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