Variant report

Variant	rs60176754
Chromosome Location	chr12:106645854-106645855
allele	A/G
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	CTCF	chr12:106645800-106645950	AG10803	skin:	n/a	n/a
2	CTCF	chr12:106645760-106645910	GM12872	blood:	n/a	n/a
3	CTCF	chr12:106645780-106645930	GM12875	blood:	n/a	n/a
4	CTCF	chr12:106645720-106645870	BJ	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:106634944..106646449-chr12:106667585..106679535,27	MCF-7	breast:
2	chr12:106644967..106648309-chr12:106659700..106662827,5	MCF-7	breast:
3	chr12:106645468..106647361-chr12:106648038..106649886,2	MCF-7	breast:

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs73384390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386669	1.00[AFR][1000 genomes];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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106642800-106647600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:106642800-106647800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:106642800-106648400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:106643000-106646400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:106643000-106647800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:106643200-106646600	Weak transcription	NHEK	skin
7	chr12:106643200-106647200	Weak transcription	Aorta	Aorta
8	chr12:106643200-106647800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:106643200-106647800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:106643200-106647800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:106643200-106648800	Weak transcription	Right Atrium	heart
12	chr12:106643400-106648400	Weak transcription	Fetal Lung	lung
13	chr12:106643400-106648400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:106644000-106648200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:106644200-106646000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr12:106644200-106649800	Weak transcription	Fetal Heart	heart
17	chr12:106644400-106649400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:106644800-106646000	Enhancers	HSMMtube	muscle
19	chr12:106645000-106646000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:106645000-106646000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:106645000-106646000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:106645000-106646000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:106645200-106646000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:106645200-106646000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:106645400-106646000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:106645400-106646000	Enhancers	HSMM	muscle
27	chr12:106645400-106646200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr12:106645400-106646200	Enhancers	Placenta	Placenta
29	chr12:106645400-106646200	Enhancers	Spleen	Spleen
30	chr12:106645600-106646000	Enhancers	NHLF	lung
31	chr12:106645600-106646200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:106645600-106646200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr12:106645600-106646200	Enhancers	NHDF-Ad	bronchial
34	chr12:106645600-106647800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:106645800-106646000	Enhancers	Left Ventricle	heart
36	chr12:106645800-106646000	Enhancers	Ovary	ovary
37	chr12:106645800-106646200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:106645800-106646200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:106645800-106646200	Enhancers	Fetal Kidney	kidney
40	chr12:106645800-106647600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:106645800-106647800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:106645800-106647800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:106645800-106647800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:106645800-106647800	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:106645800-106648000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:106645800-106648000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:106645800-106648200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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