Variant report

Variant	rs552467500
Chromosome Location	chr12:49414571-49414572
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:49414438-49414778	K562	blood:	n/a	n/a
2	POLR2A	chr12:49414360-49414879	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr12:49414364-49414736	K562	blood:	n/a	n/a
4	POLR2A	chr12:49414375-49414693	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:49414474-49414850	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:49414209-49414731	K562	blood:	n/a	n/a
7	POLR2A	chr12:49414494-49414594	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:49414510-49414634	K562	blood:	n/a	n/a
9	POLR2A	chr12:49414522-49414598	MCF-7	breast:	n/a	n/a
10	POLR2A	chr12:49414375-49414582	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49411250..49414905-chr12:49447359..49450802,6	MCF-7	breast:
2	chr12:49408415..49414757-chr12:49522619..49525582,9	MCF-7	breast:
3	chr12:49410741..49414968-chr12:49656213..49660641,6	K562	blood:
4	chr12:49408338..49419708-chr12:49447252..49460551,38	K562	blood:
5	chr12:49361132..49362678-chr12:49413782..49415312,2	MCF-7	breast:
6	chr12:49368203..49373775-chr12:49410781..49415457,6	K562	blood:
7	chr12:49410733..49415536-chr12:49523564..49526910,8	K562	blood:
8	chr12:49369680..49374710-chr12:49411684..49416052,5	K562	blood:
9	chr12:49409658..49414587-chr12:49499656..49504173,4	K562	blood:
10	chr12:49409714..49416851-chr12:49447402..49455499,24	MCF-7	breast:
11	chr12:49390223..49391069-chr12:49413217..49414800,4	K562	blood:
12	chr12:49407466..49416688-chr12:49451532..49456163,12	MCF-7	breast:
13	chr12:49411020..49415552-chr12:49523211..49527183,13	K562	blood:
14	chr12:49410141..49415550-chr12:49657481..49661686,9	K562	blood:
15	chr12:49412128..49415221-chr12:49522907..49525212,5	MCF-7	breast:

No data

Variant related genes	Relation type
PRKAG1	TF binding region
ENSG00000167548	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000200303	Chromatin interaction
ENSG00000125084	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000167553	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
6	esv3387384	chr12:49412035-49416433	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv3397588	chr12:49413110-49415658	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
8	esv3354957	chr12:49413735-49414983	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49412600-49415000	Weak transcription	Gastric	stomach
2	chr12:49413000-49414600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:49413000-49414600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:49413000-49414600	Weak transcription	Lung	lung
5	chr12:49413000-49414600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:49413000-49415000	Weak transcription	Esophagus	oesophagus
7	chr12:49413000-49415000	Weak transcription	Pancreas	Pancrea
8	chr12:49413000-49415200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:49413000-49415200	Weak transcription	Aorta	Aorta
10	chr12:49413000-49415200	Weak transcription	Brain Substantia Nigra	brain
11	chr12:49413000-49415200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:49413000-49415600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:49413000-49416000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:49413000-49453400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:49413200-49414600	Weak transcription	Ovary	ovary
16	chr12:49413200-49415000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:49413200-49415200	Weak transcription	Right Ventricle	heart
18	chr12:49413200-49415200	Weak transcription	Small Intestine	intestine
19	chr12:49413200-49415800	Weak transcription	HMEC	breast
20	chr12:49413200-49421400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:49413200-49424800	Weak transcription	Right Atrium	heart
22	chr12:49413400-49414600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:49413400-49414600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:49413400-49414600	Weak transcription	Brain Anterior Caudate	brain
25	chr12:49413400-49421600	Weak transcription	Stomach Mucosa	stomach
26	chr12:49413400-49449000	Strong transcription	Fetal Intestine Small	intestine
27	chr12:49413600-49414600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:49413600-49414600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:49413600-49414600	Weak transcription	Primary T cells from cord blood	blood
30	chr12:49413600-49414600	Weak transcription	Adipose Nuclei	Adipose
31	chr12:49413600-49414600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:49413600-49414600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:49413600-49414600	Weak transcription	HSMMtube	muscle
34	chr12:49413600-49414800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:49413600-49414800	Enhancers	Primary hematopoietic stem cells	blood
36	chr12:49413600-49414800	Weak transcription	Left Ventricle	heart
37	chr12:49413600-49414800	Weak transcription	Hela-S3	cervix
38	chr12:49413600-49415000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:49413600-49415000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:49413600-49415000	Weak transcription	NHEK	skin
41	chr12:49413600-49415200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:49413600-49415200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:49413600-49415200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:49413600-49415200	Weak transcription	Liver	Liver
45	chr12:49413600-49415200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:49413600-49415200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:49413600-49415200	Weak transcription	HUVEC	blood vessel
48	chr12:49413600-49415400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:49413600-49415400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:49413600-49415400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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