Variant report

Variant	rs549625062
Chromosome Location	chr12:58214843-58214844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:58214476-58214981	GM12891	blood:	n/a	n/a
2	POLR2A	chr12:58214015-58215426	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:58214602-58215177	GM12891	blood:	n/a	n/a
4	FOSL2	chr12:58213321-58215580	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:58212030-58219642	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:58214768-58215264	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:58214816-58215340	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:58214380-58215251	GM12892	blood:	n/a	n/a
9	POLR2A	chr12:58209632-58221838	K562	blood:	n/a	n/a
10	POLR2A	chr12:58214359-58215062	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:58214808-58215098	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:58214827-58215962	K562	blood:	n/a	n/a
13	POLR2A	chr12:58214647-58215758	K562	blood:	n/a	n/a
14	POLR2A	chr12:58214158-58216521	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:58214813-58215979	HepG2	liver:	n/a	n/a
16	POLR2A	chr12:58214829-58215278	K562	blood:	n/a	n/a
17	POLR2A	chr12:58214803-58215983	K562	blood:	n/a	n/a
18	POLR2A	chr12:58213791-58215443	PFSK-1	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:58212086..58214984-chr12:58238632..58241452,2	K562	blood:
2	chr12:58212873..58215210-chr12:58216073..58217617,2	MCF-7	breast:
3	chr12:58209123..58211135-chr12:58212326..58215029,2	MCF-7	breast:
4	chr12:58214310..58216353-chr12:58218118..58220758,3	MCF-7	breast:

No data

Variant related genes	Relation type
AVIL	TF binding region
ENSG00000175215	Chromatin interaction
ENSG00000207789	Chromatin interaction
ENSG00000135407	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases
2	nsv983335	chr12:58213657-58218396	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58177400-58216400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:58181400-58216000	Weak transcription	Fetal Brain Male	brain
3	chr12:58187000-58216600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:58187200-58215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:58190200-58216600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:58190800-58215200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:58190800-58216200	Weak transcription	HUVEC	blood vessel
8	chr12:58191000-58216400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:58191200-58216200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:58192200-58216200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:58193200-58215000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:58193400-58216200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:58194200-58215200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:58197200-58216400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:58198400-58215000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:58201200-58215000	Weak transcription	Fetal Kidney	kidney
17	chr12:58202400-58215000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:58202400-58215200	Weak transcription	GM12878-XiMat	blood
19	chr12:58203400-58216600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:58204200-58216400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:58204800-58216200	Weak transcription	NHEK	skin
22	chr12:58205000-58216600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:58205000-58216600	Weak transcription	Hela-S3	cervix
24	chr12:58207400-58215000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:58207800-58222800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:58208600-58215400	Enhancers	HepG2	liver
27	chr12:58209400-58216400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:58209400-58226800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr12:58209600-58216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:58210800-58217000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:58211200-58216200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:58211200-58216200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:58211200-58223800	Strong transcription	Osteobl	bone
34	chr12:58211400-58215000	Weak transcription	Ovary	ovary
35	chr12:58211400-58215000	Weak transcription	Stomach Mucosa	stomach
36	chr12:58211400-58215200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:58211400-58217000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr12:58211400-58224600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:58211400-58224800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:58211600-58215600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:58211600-58216600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr12:58211600-58222800	Strong transcription	Fetal Stomach	stomach
43	chr12:58211600-58224000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:58211800-58215200	Weak transcription	Small Intestine	intestine
45	chr12:58211800-58216200	Strong transcription	Fetal Muscle Leg	muscle
46	chr12:58211800-58216400	Weak transcription	Psoas Muscle	Psoas
47	chr12:58212000-58215000	Strong transcription	Lung	lung
48	chr12:58212000-58216800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:58212000-58217000	Strong transcription	Fetal Thymus	thymus
50	chr12:58212000-58222600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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