Variant report

Variant	rs545602795
Chromosome Location	chr12:49184005-49184006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

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	MAZ	chr12:49183540-49184016	Hela-S3	cervix:	n/a	n/a
3	HCFC1	chr12:49182114-49184467	Hela-S3	cervix:	n/a	n/a
4	ZBTB7A	chr12:49181877-49184070	ECC-1	luminal epithelium:	n/a	chr12:49183052-49183061

No data

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

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:

No data

Variant related genes	Relation type
ADCY6	TF binding region
ENSG00000207467	Chromatin interaction
ENSG00000174233	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000264201	Chromatin interaction
ENSG00000129315	Chromatin interaction
ENSG00000257653	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:80 , 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	chr12:49181800-49184200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:49182000-49184200	Active TSS	Brain Substantia Nigra	brain
4	chr12:49182200-49184200	Active TSS	Brain Anterior Caudate	brain
5	chr12:49182200-49184200	Active TSS	Brain Hippocampus Middle	brain
6	chr12:49183200-49188400	Weak transcription	NHEK	skin
7	chr12:49183400-49184200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr12:49183600-49184200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:49183600-49184200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:49183600-49184200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:49183600-49184200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:49183600-49184200	Flanking Active TSS	Liver	Liver
13	chr12:49183600-49184200	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr12:49183600-49184200	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr12:49183600-49184200	Flanking Active TSS	Colonic Mucosa	Colon
16	chr12:49183600-49184200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr12:49183600-49184200	Enhancers	Esophagus	oesophagus
18	chr12:49183600-49184200	Flanking Active TSS	Fetal Heart	heart
19	chr12:49183600-49184200	Enhancers	Placenta	Placenta
20	chr12:49183600-49184200	Enhancers	Lung	lung
21	chr12:49183600-49184200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr12:49183600-49184200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr12:49183600-49184200	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr12:49183600-49184200	Flanking Active TSS	A549	lung
25	chr12:49183600-49184200	Flanking Active TSS	HepG2	liver
26	chr12:49183600-49184400	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr12:49183600-49184400	Flanking Active TSS	Stomach Mucosa	stomach
28	chr12:49183600-49184400	Flanking Active TSS	Hela-S3	cervix
29	chr12:49183800-49184200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr12:49183800-49184200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:49183800-49184200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:49183800-49184200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr12:49183800-49184200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr12:49183800-49184200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr12:49183800-49184200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:49183800-49184200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr12:49183800-49184200	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr12:49183800-49184200	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr12:49183800-49184200	Flanking Active TSS	Fetal Kidney	kidney
40	chr12:49183800-49184200	Enhancers	Fetal Muscle Leg	muscle
41	chr12:49183800-49184200	Bivalent Enhancer	Fetal Thymus	thymus
42	chr12:49183800-49184200	Enhancers	Gastric	stomach
43	chr12:49183800-49184200	Enhancers	Left Ventricle	heart
44	chr12:49183800-49184200	Enhancers	Ovary	ovary
45	chr12:49183800-49184200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr12:49183800-49184200	Enhancers	HMEC	breast
47	chr12:49183800-49184200	Enhancers	NHLF	lung
48	chr12:49183800-49184400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr12:49183800-49184400	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr12:49183800-49184400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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