Variant report

Variant	rs75330178
Chromosome Location	chr12:122908285-122908286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:130)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:130 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:122908098-122908350	HepG2	liver:	n/a	n/a
2	NR2F2	chr12:122907414-122908850	K562	blood:	n/a	n/a
3	POLR2A	chr12:122908114-122908838	K562	blood:	n/a	n/a
4	FOXA2	chr12:122908137-122908569	A549	lung:	n/a	n/a
5	POLR2A	chr12:122908007-122908303	HepG2	liver:	n/a	n/a
6	RCOR1	chr12:122907437-122908370	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:122906518-122908426	H1-neurons	neurons:	n/a	n/a
8	JUND	chr12:122908077-122908528	K562	blood:	n/a	n/a
9	TAF1	chr12:122907313-122908308	H1-hESC	embryonic stem cell:	n/a	n/a
10	TBP	chr12:122907382-122908457	H1-hESC	embryonic stem cell:	n/a	n/a
11	SPI1	chr12:122908070-122908288	K562	blood:	n/a	chr12:122908219-122908232
12	EP300	chr12:122908241-122908588	GM12878	blood:	n/a	chr12:122908539-122908553
13	MAX	chr12:122908105-122908388	Hela-S3	cervix:	n/a	n/a
14	TAF1	chr12:122907339-122908399	A549	lung:	n/a	n/a
15	TCF12	chr12:122907290-122908706	A549	lung:	n/a	chr12:122908210-122908220
16	POLR2A	chr12:122908035-122908571	HepG2	liver:	n/a	n/a
17	POLR2A	chr12:122908034-122908739	K562	blood:	n/a	n/a
18	MYC	chr12:122908250-122908459	MCF10A-Er-Src	breast:	n/a	n/a
19	MAX	chr12:122908135-122908311	K562	blood:	n/a	n/a
20	BCL3	chr12:122907376-122908477	A549	lung:	n/a	chr12:122907453-122907462 chr12:122908089-122908098
21	CTCF	chr12:122908200-122908350	HAc	cerebellar:	n/a	n/a
22	POLR2A	chr12:122907984-122908897	K562	blood:	n/a	n/a
23	TAF1	chr12:122908069-122908332	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr12:122908128-122908502	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr12:122907886-122908365	A549	lung:	n/a	n/a
26	TBP	chr12:122907423-122908446	Hela-S3	cervix:	n/a	n/a
27	TCF7L2	chr12:122907481-122908325	Hela-S3	cervix:	n/a	chr12:122907620-122907627 chr12:122907826-122907833
28	FOS	chr12:122908272-122908443	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr12:122905815-122908385	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr12:122905478-122908917	Hela-S3	cervix:	n/a	n/a
31	TBP	chr12:122908090-122908596	HepG2	liver:	n/a	n/a
32	MXI1	chr12:122905382-122908556	SK-N-SH	brain:	n/a	chr12:122908358-122908367
33	MAX	chr12:122907243-122908441	A549	lung:	n/a	chr12:122908038-122908047
34	FOXA1	chr12:122908073-122908490	HepG2	liver:	n/a	n/a
35	GTF2F1	chr12:122907535-122908524	Hela-S3	cervix:	n/a	n/a
36	JUND	chr12:122907997-122908354	H1-hESC	embryonic stem cell:	n/a	n/a
37	BCLAF1	chr12:122908275-122908728	K562	blood:	n/a	n/a
38	POLR2A	chr12:122905364-122908744	MCF10A-Er-Src	breast:	n/a	n/a
39	HEY1	chr12:122907974-122908781	HepG2	liver:	n/a	n/a
40	USF2	chr12:122908136-122908416	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr12:122905881-122908872	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr12:122905741-122908876	Hela-S3	cervix:	n/a	n/a
43	ELF1	chr12:122907983-122908392	K562	blood:	n/a	n/a
44	CEBPB	chr12:122908169-122908448	A549	lung:	n/a	n/a
45	NFYA	chr12:122907705-122908400	Hela-S3	cervix:	n/a	n/a
46	FOXA2	chr12:122908079-122908478	HepG2	liver:	n/a	n/a
47	POLR2A	chr12:122907949-122908301	Gliobla	brain:	n/a	n/a
48	E2F6	chr12:122907911-122908321	K562	blood:	n/a	n/a
49	REST	chr12:122907379-122908348	A549	lung:	n/a	n/a
50	POLR2A	chr12:122907303-122908287	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122906748..122909467-chr12:123010139..123012944,2	K562	blood:
2	chr12:122879571..122888507-chr12:122899670..122909196,27	K562	blood:
3	chr12:122882564..122887396-chr12:122904302..122908331,13	MCF-7	breast:
4	chr12:122888608..122890909-chr12:122907280..122910436,3	K562	blood:
5	chr12:122906376..122908610-chr12:123005657..123008137,3	MCF-7	breast:
6	chr12:122908026..122909753-chr12:122911517..122913125,2	K562	blood:
7	chr12:122905580..122908414-chr12:122982278..122985321,3	K562	blood:
8	chr1:159894566..159895411-chr12:122907645..122908495,2	Hela-S3	cervix:
9	chr12:122905434..122908389-chr12:122983902..122986310,2	K562	blood:
10	chr12:122907836..122908689-chr5:36876906..36877771,2	Hela-S3	cervix:
11	chr12:122877588..122886723-chr12:122904086..122910536,22	K562	blood:
12	chr12:122902575..122904900-chr12:122907634..122909136,2	MCF-7	breast:
13	chr12:122878851..122886809-chr12:122904517..122908613,16	MCF-7	breast:
14	chr12:122908054..122908892-chr14:46408991..46409734,2	MCF-7	breast:
15	chr12:122905004..122910047-chr12:122982684..122986625,7	MCF-7	breast:
16	chr10:32344743..32345244-chr12:122907567..122908541,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
CLIP1	TF binding region
ENSG00000033030	Chromatin interaction
ENSG00000257097	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000158710	Chromatin interaction
ENSG00000130779	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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	esv3438467	chr12:122906324-122908322	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122905600-122908400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:122905600-122908400	Active TSS	Left Ventricle	heart
3	chr12:122905800-122908600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:122905800-122908600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr12:122906000-122908400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:122906200-122908400	Active TSS	Lung	lung
7	chr12:122907400-122908400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:122907400-122908400	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr12:122907400-122908400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr12:122907400-122908400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr12:122907400-122908400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr12:122907400-122908400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:122907400-122908400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:122907400-122908400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr12:122907400-122908400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:122907400-122908400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr12:122907400-122908400	Flanking Active TSS	Liver	Liver
18	chr12:122907400-122908400	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr12:122907400-122908400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr12:122907400-122908400	Flanking Active TSS	HMEC	breast
21	chr12:122907400-122908400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr12:122907400-122908400	Flanking Active TSS	NH-A	brain
23	chr12:122907400-122908400	Flanking Active TSS	Osteobl	bone
24	chr12:122907400-122908600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:122907400-122908600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:122907400-122908600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:122907400-122908600	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr12:122907400-122908600	Flanking Active TSS	Placenta	Placenta
29	chr12:122907400-122908600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr12:122907400-122908600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr12:122907400-122908600	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr12:122907400-122908600	Flanking Active TSS	NHEK	skin
33	chr12:122907600-122908400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:122907600-122908400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:122907600-122908400	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr12:122907600-122908400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr12:122907600-122908400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:122907600-122908400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:122907600-122908400	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr12:122907600-122908400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr12:122907600-122908400	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr12:122907600-122908400	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr12:122907600-122908400	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr12:122907600-122908400	Flanking Active TSS	Fetal Lung	lung
45	chr12:122907600-122908400	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr12:122907600-122908400	Flanking Active TSS	NHLF	lung
47	chr12:122907600-122908600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:122907600-122908600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:122907600-122908600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr12:122907600-122908600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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