Variant report

Variant	rs576075765
Chromosome Location	chr12:49184251-49184252
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:6)
LncRNA
region (count:4)
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:6 , 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:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CACNB3-1	chr12:49184096-49184350	XLOC_009738
2	lnc-CACNB3-1	chr12:49184096-49184318	ENSG00000257660
3	lnc-CACNB3-1	chr12:49184096-49184318	ENSG00000257660
4	lnc-CACNB3-1	chr12:49184096-49184307	NONHSAT028028

No data

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