Variant report

Variant	rs564425868
Chromosome Location	chr12:49184341-49184342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr12:49182114-49184467	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 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:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CACNB3-1	chr12:49184096-49184350	XLOC_009738

No data

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

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49183200-49188400	Weak transcription	NHEK	skin
2	chr12:49183600-49184400	Flanking Active TSS	Fetal Intestine Small	intestine
3	chr12:49183600-49184400	Flanking Active TSS	Stomach Mucosa	stomach
4	chr12:49183600-49184400	Flanking Active TSS	Hela-S3	cervix
5	chr12:49183800-49184400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:49183800-49184400	Flanking Active TSS	Fetal Intestine Large	intestine
7	chr12:49183800-49184400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr12:49183800-49184600	Enhancers	Pancreas	Pancrea
9	chr12:49183800-49188400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:49183800-49190000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:49184000-49184400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:49184000-49184400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr12:49184000-49184400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:49184000-49184400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:49184000-49184400	Active TSS	Fetal Brain Female	brain
16	chr12:49184000-49188200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:49184000-49188400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:49184000-49188400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:49184000-49188600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:49184000-49188800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:49184000-49189600	Weak transcription	Adipose Nuclei	Adipose
22	chr12:49184200-49184400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:49184200-49184400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr12:49184200-49184400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:49184200-49184400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr12:49184200-49184400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:49184200-49184400	Enhancers	Liver	Liver
28	chr12:49184200-49184400	Enhancers	Brain Substantia Nigra	brain
29	chr12:49184200-49184400	Enhancers	Colonic Mucosa	Colon
30	chr12:49184200-49184400	Active TSS	Duodenum Mucosa	Duodenum
31	chr12:49184200-49184400	Enhancers	Fetal Heart	heart
32	chr12:49184200-49184400	Enhancers	Fetal Kidney	kidney
33	chr12:49184200-49184400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr12:49184200-49184400	Active TSS	Rectal Smooth Muscle	rectum
35	chr12:49184200-49184400	Enhancers	A549	lung
36	chr12:49184200-49184400	Enhancers	HepG2	liver
37	chr12:49184200-49185800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:49184200-49187200	Weak transcription	Placenta	Placenta
39	chr12:49184200-49187400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:49184200-49188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:49184200-49188200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:49184200-49188600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:49184200-49188600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr12:49184200-49188600	Weak transcription	HMEC	breast
45	chr12:49184200-49188800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:49184200-49188800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:49184200-49189200	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:49184200-49189400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:49184200-49189600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:49184200-49189600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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