Variant report

Variant	rs73405752
Chromosome Location	chr12:121736341-121736342
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	CEBPB	chr12:121736293-121736355	HepG2	liver:	n/a	n/a
2	STAT3	chr12:121736171-121736497	MCF10A-Er-Src	breast:	n/a	chr12:121736350-121736361
3	STAT3	chr12:121736197-121736505	MCF10A-Er-Src	breast:	n/a	chr12:121736350-121736361
4	STAT3	chr12:121736196-121736495	MCF10A-Er-Src	breast:	n/a	chr12:121736350-121736361

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121735315..121736924-chr12:121836977..121839840,2	K562	blood:
2	chr12:121734916..121736998-chr12:121837533..121840449,2	MCF-7	breast:

Variant related genes	Relation type
CAMKK2	TF binding region
ENSG00000089053	Chromatin interaction
ENSG00000170633	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10744759	0.81[AMR][1000 genomes]
rs10774591	0.81[AMR][1000 genomes]
rs2001701	0.87[EUR][1000 genomes]
rs2686367	0.87[EUR][1000 genomes]
rs2948127	0.87[EUR][1000 genomes]
rs2948132	0.87[EUR][1000 genomes]
rs4980985	0.81[AMR][1000 genomes]
rs4980993	0.81[AMR][1000 genomes]
rs7297531	0.85[EUR][1000 genomes]
rs7963796	0.85[AMR][1000 genomes]
rs7971785	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121735000-121736600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr12:121735400-121737800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:121735400-121745800	Weak transcription	Small Intestine	intestine
4	chr12:121735600-121737800	Weak transcription	Psoas Muscle	Psoas
5	chr12:121735600-121737800	Weak transcription	K562	blood
6	chr12:121735600-121739600	Weak transcription	NHDF-Ad	bronchial
7	chr12:121735600-121739800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:121735600-121745400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:121735600-121745600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:121735600-121745600	Weak transcription	Left Ventricle	heart
11	chr12:121735600-121745600	Weak transcription	HSMMtube	muscle
12	chr12:121735600-121745800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:121735600-121745800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:121735600-121745800	Weak transcription	Gastric	stomach
15	chr12:121735600-121745800	Weak transcription	Ovary	ovary
16	chr12:121735600-121745800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:121735600-121745800	Weak transcription	A549	lung
18	chr12:121735600-121746000	Weak transcription	Brain Substantia Nigra	brain
19	chr12:121735600-121746000	Weak transcription	HMEC	breast
20	chr12:121735600-121747400	Weak transcription	NHLF	lung
21	chr12:121735600-121755600	Weak transcription	Brain Angular Gyrus	brain
22	chr12:121735600-121755800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:121735600-121755800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:121735600-121755800	Weak transcription	Aorta	Aorta
25	chr12:121735600-121755800	Weak transcription	Esophagus	oesophagus
26	chr12:121735800-121737400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:121735800-121737600	Weak transcription	GM12878-XiMat	blood
28	chr12:121735800-121737800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:121735800-121737800	Weak transcription	Pancreas	Pancrea
30	chr12:121735800-121737800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:121735800-121738000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:121735800-121738200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:121735800-121738200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:121735800-121738200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr12:121735800-121744600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:121735800-121745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:121735800-121745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:121735800-121745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:121735800-121745600	Weak transcription	Brain Germinal Matrix	brain
40	chr12:121735800-121745600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:121735800-121745600	Weak transcription	Thymus	Thymus
42	chr12:121735800-121745800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:121735800-121745800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:121735800-121745800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:121735800-121745800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:121735800-121745800	Weak transcription	Primary T cells from cord blood	blood
47	chr12:121735800-121745800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:121735800-121745800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:121735800-121745800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:121735800-121745800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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