Variant report

Variant	rs73227958
Chromosome Location	chr12:122149021-122149022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr12:122148040-122149030	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122148895..122150482-chr12:122213569..122215143,2	K562	blood:
2	chr12:122148985..122154094-chr12:122210649..122217008,11	MCF-7	breast:
3	chr12:122148639..122153380-chr12:122238008..122242328,5	MCF-7	breast:
4	chr12:122125187..122126836-chr12:122146753..122149407,2	MCF-7	breast:
5	chr12:122147215..122155218-chr12:122185094..122190846,22	MCF-7	breast:
6	chr12:122145450..122152863-chr12:122233897..122241914,16	MCF-7	breast:
7	chr12:122016960..122018583-chr12:122148688..122150222,2	K562	blood:

No data

Variant related genes	Relation type
TMEM120B	TF binding region
ENSG00000089094	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000272849	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11043316	0.95[ASN][1000 genomes]
rs4760117	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4760118	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122121800-122149600	Weak transcription	Right Atrium	heart
2	chr12:122142600-122149800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122142800-122149800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:122146000-122149400	Weak transcription	Brain Substantia Nigra	brain
5	chr12:122146400-122149400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr12:122146400-122149600	Enhancers	Fetal Intestine Large	intestine
7	chr12:122146400-122149800	Enhancers	Fetal Intestine Small	intestine
8	chr12:122146800-122149400	Enhancers	HepG2	liver
9	chr12:122147200-122149400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:122147200-122149400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:122147200-122149600	Weak transcription	Thymus	Thymus
12	chr12:122147400-122149400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:122147400-122149400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:122147400-122149800	Enhancers	Fetal Muscle Leg	muscle
15	chr12:122147600-122149200	Weak transcription	Fetal Thymus	thymus
16	chr12:122147600-122149400	Weak transcription	HSMM	muscle
17	chr12:122148000-122149400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:122148000-122149400	Weak transcription	Stomach Mucosa	stomach
19	chr12:122148000-122149600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:122148000-122149600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:122148000-122149600	Enhancers	Adipose Nuclei	Adipose
22	chr12:122148000-122149600	Enhancers	Liver	Liver
23	chr12:122148000-122149800	Enhancers	Fetal Muscle Trunk	muscle
24	chr12:122148000-122149800	Weak transcription	HSMMtube	muscle
25	chr12:122148200-122149200	Weak transcription	Psoas Muscle	Psoas
26	chr12:122148200-122149400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:122148200-122149400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:122148200-122149400	Weak transcription	A549	lung
29	chr12:122148200-122149400	Weak transcription	K562	blood
30	chr12:122148200-122149400	Weak transcription	NHEK	skin
31	chr12:122148200-122149600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:122148200-122149600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:122148200-122149600	Enhancers	Pancreas	Pancrea
34	chr12:122148200-122149800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:122148200-122149800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:122148200-122149800	Weak transcription	NH-A	brain
37	chr12:122148400-122149200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:122148400-122149400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:122148400-122149400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr12:122148600-122149400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr12:122148600-122149600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:122148600-122150000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:122148800-122149400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:122148800-122149400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr12:122148800-122149600	Enhancers	Duodenum Mucosa	Duodenum
46	chr12:122148800-122149800	Enhancers	Primary B cells from cord blood	blood
47	chr12:122149000-122149600	Enhancers	Fetal Heart	heart
48	chr12:122149000-122149800	Weak transcription	GM12878-XiMat	blood
49	chr12:122149000-122150000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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