Variant report

Variant	rs183278387
Chromosome Location	chr12:49183979-49183980
allele	C/T
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	chr12:49183880-49184178	HepG2	liver:	n/a	n/a
2	TCF12	chr12:49182758-49183989	A549	lung:	n/a	chr12:49183639-49183646 chr12:49183484-49183494 chr12:49183470-49183477 chr12:49183592-49183602
3	MAX	chr12:49182217-49183991	A549	lung:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
4	MAZ	chr12:49183540-49184016	Hela-S3	cervix:	n/a	n/a
5	HCFC1	chr12:49182114-49184467	Hela-S3	cervix:	n/a	n/a
6	ZBTB7A	chr12:49181877-49184070	ECC-1	luminal epithelium:	n/a	chr12:49183052-49183061

No.	Distal block	Cell Line	Cell type
1	chr12:49183691..49185359-chr12:49187187..49189450,2	K562	blood:
2	chr12:49178102..49185044-chr12:49204782..49211867,14	MCF-7	breast:
3	chr12:49180478..49186692-chr12:49206898..49214052,14	MCF-7	breast:
4	chr12:49182132..49185770-chr12:49202933..49205906,3	MCF-7	breast:
5	chr12:49165064..49172292-chr12:49177951..49185171,13	MCF-7	breast:
6	chr12:49110036..49111681-chr12:49181615..49184278,2	MCF-7	breast:
7	chr12:49158067..49160355-chr12:49182073..49184026,2	MCF-7	breast:

Variant related genes	Relation type
ADCY6	TF binding region
ENSG00000167535	Chromatin interaction
ENSG00000207467	Chromatin interaction
ENSG00000174233	Chromatin interaction
ENSG00000129315	Chromatin interaction
ENSG00000257653	Chromatin interaction
ENSG00000264201	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3409586	chr12:49181735-49184833	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
3	esv3359848	chr12:49182310-49184858	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
4	esv3421909	chr12:49183035-49184233	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49181600-49184200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:49181800-49184000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr12:49181800-49184000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:49181800-49184200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:49182000-49184000	Active TSS	Muscle Satellite Cultured Cells	--
6	chr12:49182000-49184200	Active TSS	Brain Substantia Nigra	brain
7	chr12:49182200-49184000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:49182200-49184200	Active TSS	Brain Anterior Caudate	brain
9	chr12:49182200-49184200	Active TSS	Brain Hippocampus Middle	brain
10	chr12:49183200-49188400	Weak transcription	NHEK	skin
11	chr12:49183400-49184000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:49183400-49184000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:49183400-49184000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:49183400-49184000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr12:49183400-49184000	Flanking Active TSS	Fetal Muscle Trunk	muscle
16	chr12:49183400-49184200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr12:49183600-49184000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:49183600-49184000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:49183600-49184000	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr12:49183600-49184000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:49183600-49184000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:49183600-49184000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr12:49183600-49184000	Flanking Active TSS	Fetal Brain Male	brain
24	chr12:49183600-49184000	Flanking Active TSS	Fetal Brain Female	brain
25	chr12:49183600-49184000	Flanking Active TSS	Fetal Stomach	stomach
26	chr12:49183600-49184000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr12:49183600-49184000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr12:49183600-49184000	Enhancers	Small Intestine	intestine
29	chr12:49183600-49184000	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr12:49183600-49184200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:49183600-49184200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:49183600-49184200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:49183600-49184200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:49183600-49184200	Flanking Active TSS	Liver	Liver
35	chr12:49183600-49184200	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr12:49183600-49184200	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr12:49183600-49184200	Flanking Active TSS	Colonic Mucosa	Colon
38	chr12:49183600-49184200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr12:49183600-49184200	Enhancers	Esophagus	oesophagus
40	chr12:49183600-49184200	Flanking Active TSS	Fetal Heart	heart
41	chr12:49183600-49184200	Enhancers	Placenta	Placenta
42	chr12:49183600-49184200	Enhancers	Lung	lung
43	chr12:49183600-49184200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr12:49183600-49184200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr12:49183600-49184200	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr12:49183600-49184200	Flanking Active TSS	A549	lung
47	chr12:49183600-49184200	Flanking Active TSS	HepG2	liver
48	chr12:49183600-49184400	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr12:49183600-49184400	Flanking Active TSS	Stomach Mucosa	stomach
50	chr12:49183600-49184400	Flanking Active TSS	Hela-S3	cervix

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