Variant report

Variant	rs71069416
Chromosome Location	chr12:118572944-118572945
allele	-/GTGTGTGT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:118572670-118573357	HepG2	liver:	n/a	n/a
2	GATA3	chr12:118572758-118573146	T-47D	breast:	n/a	n/a
3	ZNF384	chr12:118572823-118574139	K562	blood:	n/a	n/a
4	ARID3A	chr12:118572774-118573040	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:118572930-118573066	K562	blood:	n/a	n/a
6	SETDB1	chr12:118572800-118573923	U2OS	brain:	n/a	n/a
7	RCOR1	chr12:118572920-118574105	K562	blood:	n/a	n/a
8	POLR2A	chr12:118572878-118573064	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:118572740-118573152	HepG2	liver:	n/a	n/a
10	BHLHE40	chr12:118572825-118573025	K562	blood:	n/a	n/a
11	MYC	chr12:118572944-118572980	K562	blood:	n/a	n/a
12	POLR2A	chr12:118572938-118572966	H1-hESC	embryonic stem cell:	n/a	n/a
13	BHLHE40	chr12:118572668-118572990	HepG2	liver:	n/a	chr12:118572823-118572836
14	ARID3A	chr12:118572943-118572954	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118572886..118574851-chr17:57922727..57925338,2	MCF-7	breast:
2	chr12:118540506..118543698-chr12:118572832..118575450,7	MCF-7	breast:
3	chr12:118499217..118500774-chr12:118572851..118574591,2	MCF-7	breast:
4	chr12:118558694..118561471-chr12:118568462..118574858,6	MCF-7	breast:
5	chr12:118557596..118560350-chr12:118572704..118574934,3	MCF-7	breast:
6	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:
7	chr12:118572169..118574578-chr12:118813281..118815774,2	MCF-7	breast:
8	chr12:118572856..118575962-chr12:118597469..118600285,3	K562	blood:

No data

Variant related genes	Relation type
PEBP1	TF binding region
ENSG00000111707	Chromatin interaction
ENSG00000135090	Chromatin interaction
ENSG00000270482	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000176871	Chromatin interaction
ENSG00000201524	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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv3406515	chr12:118572594-118575442	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118542600-118573400	Weak transcription	Primary T cells from cord blood	blood
2	chr12:118552800-118573400	Weak transcription	Aorta	Aorta
3	chr12:118553000-118573000	Weak transcription	Fetal Brain Female	brain
4	chr12:118559200-118573000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:118559200-118573000	Weak transcription	Fetal Kidney	kidney
6	chr12:118559200-118573400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:118559200-118573400	Weak transcription	Fetal Intestine Small	intestine
8	chr12:118561600-118573000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:118563200-118573400	Weak transcription	Lung	lung
10	chr12:118564400-118573200	Weak transcription	Fetal Stomach	stomach
11	chr12:118566800-118573200	Weak transcription	Right Atrium	heart
12	chr12:118567400-118573200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:118569800-118573400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:118569800-118573600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:118570000-118573000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:118570200-118573000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:118570200-118573000	Weak transcription	Brain Germinal Matrix	brain
18	chr12:118570200-118573000	Weak transcription	Psoas Muscle	Psoas
19	chr12:118570200-118573400	Weak transcription	Colonic Mucosa	Colon
20	chr12:118570200-118573600	Weak transcription	Stomach Mucosa	stomach
21	chr12:118570400-118573400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:118570600-118573000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:118572200-118573200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:118572200-118573200	Flanking Active TSS	Dnd41	blood
25	chr12:118572600-118573000	Flanking Active TSS	Hela-S3	cervix
26	chr12:118572600-118573200	Enhancers	Brain Substantia Nigra	brain
27	chr12:118572600-118573400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:118572600-118573600	Flanking Active TSS	Liver	Liver
29	chr12:118572600-118574800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:118572600-118575400	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr12:118572600-118575400	Active TSS	A549	lung
32	chr12:118572600-118575800	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr12:118572800-118573000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:118572800-118573000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:118572800-118573000	Enhancers	Fetal Lung	lung
36	chr12:118572800-118573000	Enhancers	Placenta	Placenta
37	chr12:118572800-118573000	Enhancers	Left Ventricle	heart
38	chr12:118572800-118573000	Flanking Active TSS	Ovary	ovary
39	chr12:118572800-118573000	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr12:118572800-118573000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr12:118572800-118573000	Flanking Active TSS	GM12878-XiMat	blood
42	chr12:118572800-118573000	Flanking Active TSS	NHEK	skin
43	chr12:118572800-118573200	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:118572800-118573200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:118572800-118573200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr12:118572800-118573200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr12:118572800-118573200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr12:118572800-118573200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:118572800-118573200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr12:118572800-118573200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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