Variant report

Variant	rs73384390
Chromosome Location	chr12:106644124-106644125
allele	A/C
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	chr12:106641572-106644424	GM12891	blood:	n/a	n/a
2	POLR2A	chr12:106641025-106644169	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106634944..106646449-chr12:106667585..106679535,27	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258355	TF binding region
CKAP4	TF binding region
ENSG00000238609	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3759303	0.91[AFR][1000 genomes]
rs60176754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386677	1.00[EUR][1000 genomes]
rs73386681	1.00[EUR][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	esv1799917	chr12:106637876-106649988	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv1834434	chr12:106637876-106649988	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106642200-106644200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr12:106642400-106644200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr12:106642600-106644400	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr12:106642800-106645400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:106642800-106647600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:106642800-106647800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:106642800-106648400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:106643000-106644200	Enhancers	Fetal Heart	heart
9	chr12:106643000-106644400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr12:106643000-106644400	Enhancers	Fetal Muscle Leg	muscle
11	chr12:106643000-106645200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:106643000-106646400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:106643000-106647800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:106643200-106644200	Weak transcription	Colonic Mucosa	Colon
15	chr12:106643200-106644200	Enhancers	Duodenum Mucosa	Duodenum
16	chr12:106643200-106644400	Weak transcription	Fetal Brain Female	brain
17	chr12:106643200-106644800	Weak transcription	HSMMtube	muscle
18	chr12:106643200-106645000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:106643200-106645000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:106643200-106645200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:106643200-106645200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:106643200-106645400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:106643200-106645400	Weak transcription	Brain Substantia Nigra	brain
24	chr12:106643200-106645400	Weak transcription	HSMM	muscle
25	chr12:106643200-106645600	Weak transcription	NHLF	lung
26	chr12:106643200-106645800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:106643200-106645800	Enhancers	Primary B cells from peripheral blood	blood
28	chr12:106643200-106646600	Weak transcription	NHEK	skin
29	chr12:106643200-106647200	Weak transcription	Aorta	Aorta
30	chr12:106643200-106647800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:106643200-106647800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:106643200-106647800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:106643200-106648800	Weak transcription	Right Atrium	heart
34	chr12:106643400-106644200	Enhancers	Ovary	ovary
35	chr12:106643400-106644200	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr12:106643400-106644600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:106643400-106644800	Weak transcription	NHDF-Ad	bronchial
38	chr12:106643400-106645000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:106643400-106645000	Weak transcription	Fetal Kidney	kidney
40	chr12:106643400-106645000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr12:106643400-106645000	Weak transcription	Osteobl	bone
42	chr12:106643400-106645200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:106643400-106645200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:106643400-106645400	Weak transcription	Spleen	Spleen
45	chr12:106643400-106648400	Weak transcription	Fetal Lung	lung
46	chr12:106643400-106648400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:106643600-106644400	Enhancers	GM12878-XiMat	blood
48	chr12:106643600-106644600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:106643600-106645000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:106643600-106645200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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