Variant report

Variant	rs534376352
Chromosome Location	chr12:118575057-118575058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:118575009-118575092	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:118573396-118575412	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:118573544-118575236	GM19193	blood:	n/a	n/a
4	MXI1	chr12:118573231-118575154	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr12:118573525-118575356	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:118573401-118575268	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:118574437-118575291	HepG2	liver:	n/a	n/a
8	MAX	chr12:118573489-118575314	HepG2	liver:	n/a	chr12:118573848-118573857
9	POLR2A	chr12:118573561-118575167	Hela-S3	cervix:	n/a	n/a
10	RFX5	chr12:118573166-118575203	SK-N-SH	brain:	n/a	chr12:118573817-118573826
11	POLR2A	chr12:118573462-118575241	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:118575033-118575083	GM12878	blood:	n/a
2	chr12:118575033-118575083	MCF10A-Er-Src	breast:	n/a
3	chr12:118575033-118575083	U87	brain:	n/a
4	chr12:118575033-118575083	ProgFib	skin:	n/a
5	chr12:118575033-118575083	HRE	kidney:	n/a
6	chr12:118575033-118575083	HUVEC	blood vessel:	n/a
7	chr12:118575033-118575083	HepG2	liver:	n/a
8	chr12:118575033-118575083	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:118575033-118575083	ECC-1	luminal epithelium:	n/a
10	chr12:118575033-118575083	GM12891	blood:	n/a
11	chr12:118575033-118575083	HEEpiC	esophagus:	n/a
12	chr12:118575033-118575083	K562	blood:	n/a
13	chr12:118575033-118575083	HRCEpiC	kidney:	n/a
14	chr12:118575033-118575083	MCF-7	breast:	n/a
15	chr12:118575033-118575083	PANC-1	pancreas:	n/a
16	chr12:118575033-118575083	NB4	blood:	n/a
17	chr12:118575033-118575083	HL-60	blood:	n/a
18	chr12:118575033-118575083	ovcar-3	ovarian:	n/a
19	chr12:118575033-118575083	HIPEpiC	eye:	n/a
20	chr12:118575033-118575083	Hepatocyte	liver:	n/a
21	chr12:118575033-118575083	AG09309	skin:	n/a
22	chr12:118575033-118575083	Jurkat	blood:	n/a
23	chr12:118575033-118575083	CMK	blood:	n/a
24	chr12:118575033-118575083	NHBE	bronchial:	n/a
25	chr12:118575033-118575083	T-47D	breast:	n/a
26	chr12:118575033-118575083	PrEC	prostate:	n/a
27	chr12:118575033-118575083	SK-N-MC	brain:	n/a
28	chr12:118575033-118575083	NHDF-neo	bronchial:	n/a
29	chr12:118575033-118575083	GM12892	blood:	n/a
30	chr12:118575033-118575083	HNPCEpiC	eye:	n/a
31	chr12:118575033-118575083	AG04450	lung:	fetal
32	chr12:118575033-118575083	SKMC	muscle:	n/a
33	chr12:118575033-118575083	AG09319	gingival:	n/a
34	chr12:118575033-118575083	IMR90	lung:	fetal
35	chr12:118575033-118575083	HEK293	kidney:	embryo
36	chr12:118575033-118575083	SAEC	small airway:	n/a
37	chr12:118575033-118575083	HCF	heart:	n/a
38	chr12:118575033-118575083	AoSMC	blood vessel:	n/a
39	chr12:118575033-118575083	PFSK-1	brain:	n/a
40	chr12:118575033-118575083	HMEC	breast:	n/a
41	chr12:118575033-118575083	AG04449	skin:	fetal
42	chr12:118575033-118575083	BJ	skin:	n/a
43	chr12:118575033-118575083	Caco-2	colon:	n/a
44	chr12:118575033-118575083	BE2_C	brain:	n/a
45	chr12:118575033-118575083	HCT-116	colon:	n/a
46	chr12:118575033-118575083	NT2-D1	testis:	n/a
47	chr12:118575033-118575083	SK-N-SH_RA	brain:	n/a
48	chr12:118575033-118575083	LNCaP	prostate:	n/a
49	chr12:118575033-118575083	HCPEpiC	choroid plexus:	n/a
50	chr12:118575033-118575083	H1-hESC	embryonic stem cell:	embryo

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118540025..118541851-chr12:118573172..118576109,2	MCF-7	breast:
2	chr12:118498119..118500024-chr12:118572981..118575568,2	K562	blood:
3	chr12:118573153..118575288-chr12:118813964..118815499,2	K562	blood:
4	chr12:118540506..118543698-chr12:118572832..118575450,7	MCF-7	breast:
5	chr12:118573812..118576177-chr12:118596570..118599987,3	K562	blood:
6	chr12:118556622..118559418-chr12:118574681..118576805,2	K562	blood:
7	chr12:118573102..118576254-chr12:118808901..118815960,7	MCF-7	breast:
8	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:
9	chr12:118572856..118575962-chr12:118597469..118600285,3	K562	blood:

No data

Variant related genes	Relation type
PEBP1	TF binding region
VSIG10	TF binding region
PEBP1	CpG island
VSIG10	CpG island
ENSG00000111707	Chromatin interaction
ENSG00000135090	Chromatin interaction
ENSG00000270482	Chromatin interaction
ENSG00000176871	Chromatin interaction
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv1054703	chr12:118575000-118638613	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv541611	chr12:118575000-118638613	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118572600-118575400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:118572600-118575400	Active TSS	A549	lung
3	chr12:118572600-118575800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr12:118572800-118575400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr12:118572800-118575400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:118572800-118575400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr12:118572800-118575400	Active TSS	HSMM	muscle
8	chr12:118572800-118575400	Active TSS	NHDF-Ad	bronchial
9	chr12:118572800-118575400	Active TSS	NHLF	lung
10	chr12:118572800-118575800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:118573000-118575200	Active TSS	Ovary	ovary
12	chr12:118573000-118575400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr12:118573000-118575400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr12:118573200-118575200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:118573200-118575200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:118573200-118575200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:118573200-118575200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:118573200-118575200	Active TSS	Brain Hippocampus Middle	brain
19	chr12:118573200-118575200	Active TSS	Fetal Intestine Large	intestine
20	chr12:118573200-118575200	Active TSS	Fetal Kidney	kidney
21	chr12:118573200-118575200	Active TSS	Pancreas	Pancrea
22	chr12:118573200-118575200	Active TSS	Psoas Muscle	Psoas
23	chr12:118573200-118575400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr12:118573200-118575400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:118573200-118575400	Active TSS	Esophagus	oesophagus
26	chr12:118573200-118575400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr12:118573200-118575400	Active TSS	Right Atrium	heart
28	chr12:118573400-118575200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:118573400-118575200	Active TSS	Aorta	Aorta
30	chr12:118573400-118575200	Active TSS	Lung	lung
31	chr12:118573400-118575400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:118573400-118575400	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr12:118573400-118575400	Active TSS	NH-A	brain
34	chr12:118574000-118575400	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr12:118574200-118575200	Flanking Active TSS	Placenta	Placenta
36	chr12:118574400-118575200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr12:118574400-118575400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr12:118574400-118575400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr12:118574400-118575400	Active TSS	Brain Germinal Matrix	brain
40	chr12:118574600-118575200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:118574600-118575200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr12:118574600-118575200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:118574600-118575200	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr12:118574600-118575200	Flanking Active TSS	K562	blood
45	chr12:118574600-118575400	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr12:118574600-118575400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:118574600-118575400	Flanking Active TSS	Dnd41	blood
48	chr12:118574800-118575200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:118574800-118575200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:118574800-118575200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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