Variant report

Variant	rs149708470
Chromosome Location	chr12:122908090-122908091
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:132)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:132 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr12:122907469-122908186	MCF10A-Er-Src	breast:	n/a	chr12:122907502-122907516 chr12:122908071-122908079 chr12:122908068-122908076 chr12:122907587-122907599 chr12:122907505-122907513 chr12:122907503-122907514
2	ELK1	chr12:122908070-122908227	Hela-S3	cervix:	n/a	n/a
3	NR2F2	chr12:122907414-122908850	K562	blood:	n/a	n/a
4	POLR2A	chr12:122908007-122908303	HepG2	liver:	n/a	n/a
5	RCOR1	chr12:122907437-122908370	Hela-S3	cervix:	n/a	n/a
6	UBTF	chr12:122907999-122908183	K562	blood:	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	E2F6	chr12:122907321-122908284	H1-hESC	embryonic stem cell:	n/a	chr12:122907592-122907603
13	TAF1	chr12:122907339-122908399	A549	lung:	n/a	n/a
14	POLR2A	chr12:122908083-122908262	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	NFIC	chr12:122907620-122908231	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:122908034-122908739	K562	blood:	n/a	n/a
19	BCL3	chr12:122907376-122908477	A549	lung:	n/a	chr12:122907453-122907462 chr12:122908089-122908098
20	POLR2A	chr12:122907984-122908897	K562	blood:	n/a	n/a
21	GABPA	chr12:122907712-122908142	A549	lung:	n/a	n/a
22	TAF1	chr12:122908069-122908332	Hela-S3	cervix:	n/a	n/a
23	CUX1	chr12:122908062-122908157	K562	blood:	n/a	n/a
24	POLR2A	chr12:122907886-122908365	A549	lung:	n/a	n/a
25	TBP	chr12:122907423-122908446	Hela-S3	cervix:	n/a	n/a
26	TCF7L2	chr12:122907481-122908325	Hela-S3	cervix:	n/a	chr12:122907620-122907627 chr12:122907826-122907833
27	RCOR1	chr12:122908003-122908095	K562	blood:	n/a	n/a
28	EBF1	chr12:122907718-122908117	GM12878	blood:	n/a	chr12:122907725-122907734 chr12:122908063-122908072
29	POLR2A	chr12:122905815-122908385	Hela-S3	cervix:	n/a	n/a
30	MYC	chr12:122907658-122908133	H1-hESC	embryonic stem cell:	n/a	chr12:122908038-122908047
31	POLR2A	chr12:122905478-122908917	Hela-S3	cervix:	n/a	n/a
32	TBP	chr12:122908090-122908596	HepG2	liver:	n/a	n/a
33	MXI1	chr12:122905382-122908556	SK-N-SH	brain:	n/a	chr12:122908358-122908367
34	MAX	chr12:122907243-122908441	A549	lung:	n/a	chr12:122908038-122908047
35	FOXA1	chr12:122908073-122908490	HepG2	liver:	n/a	n/a
36	GTF2F1	chr12:122907535-122908524	Hela-S3	cervix:	n/a	n/a
37	JUND	chr12:122907997-122908354	H1-hESC	embryonic stem cell:	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	POLR2A	chr12:122905881-122908872	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr12:122905741-122908876	Hela-S3	cervix:	n/a	n/a
42	ELF1	chr12:122907983-122908392	K562	blood:	n/a	n/a
43	NFYA	chr12:122907705-122908400	Hela-S3	cervix:	n/a	n/a
44	FOXA2	chr12:122908079-122908478	HepG2	liver:	n/a	n/a
45	POLR2A	chr12:122907949-122908301	Gliobla	brain:	n/a	n/a
46	E2F6	chr12:122907911-122908321	K562	blood:	n/a	n/a
47	REST	chr12:122907379-122908348	A549	lung:	n/a	n/a
48	POLR2A	chr12:122907303-122908287	H1-hESC	embryonic stem cell:	n/a	n/a
49	SIN3AK20	chr12:122907967-122908527	A549	lung:	n/a	n/a
50	POLR2A	chr12:122908011-122908367	U87	brain:	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
ENSG00000184445	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000257097	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000158710	Chromatin interaction
ENSG00000111011	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3406745	chr12:122905624-122908172	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122905400-122908200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:122905600-122908200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr12:122905600-122908200	Active TSS	Right Ventricle	heart
4	chr12:122905600-122908400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:122905600-122908400	Active TSS	Left Ventricle	heart
6	chr12:122905800-122908200	Active TSS	NHDF-Ad	bronchial
7	chr12:122905800-122908600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:122905800-122908600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr12:122906000-122908200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:122906000-122908200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:122906000-122908200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr12:122906000-122908200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:122906000-122908200	Active TSS	Fetal Kidney	kidney
14	chr12:122906000-122908200	Active TSS	A549	lung
15	chr12:122906000-122908400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:122906200-122908200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr12:122906200-122908200	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr12:122906200-122908200	Active TSS	Gastric	stomach
19	chr12:122906200-122908400	Active TSS	Lung	lung
20	chr12:122907400-122908200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr12:122907400-122908200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr12:122907400-122908200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr12:122907400-122908200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:122907400-122908200	Flanking Active TSS	Colonic Mucosa	Colon
25	chr12:122907400-122908200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr12:122907400-122908200	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr12:122907400-122908200	Flanking Active TSS	GM12878-XiMat	blood
28	chr12:122907400-122908200	Flanking Active TSS	HUVEC	blood vessel
29	chr12:122907400-122908400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:122907400-122908400	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr12:122907400-122908400	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr12:122907400-122908400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr12:122907400-122908400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr12:122907400-122908400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:122907400-122908400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:122907400-122908400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr12:122907400-122908400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:122907400-122908400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr12:122907400-122908400	Flanking Active TSS	Liver	Liver
40	chr12:122907400-122908400	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr12:122907400-122908400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr12:122907400-122908400	Flanking Active TSS	HMEC	breast
43	chr12:122907400-122908400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr12:122907400-122908400	Flanking Active TSS	NH-A	brain
45	chr12:122907400-122908400	Flanking Active TSS	Osteobl	bone
46	chr12:122907400-122908600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:122907400-122908600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:122907400-122908600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:122907400-122908600	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr12:122907400-122908600	Flanking Active TSS	Placenta	Placenta

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