Variant report

Variant	rs189373634
Chromosome Location	chr12:122907962-122907963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	NR2F2	chr12:122907414-122908850	K562	blood:	n/a	n/a
3	POLR2A	chr12:122907949-122908075	A549	lung:	n/a	n/a
4	RCOR1	chr12:122907437-122908370	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:122906518-122908426	H1-neurons	neurons:	n/a	n/a
6	TAF1	chr12:122907313-122908308	H1-hESC	embryonic stem cell:	n/a	n/a
7	TBP	chr12:122907382-122908457	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr12:122907321-122908284	H1-hESC	embryonic stem cell:	n/a	chr12:122907592-122907603
9	TAF1	chr12:122907339-122908399	A549	lung:	n/a	n/a
10	TCF12	chr12:122907290-122908706	A549	lung:	n/a	chr12:122908210-122908220
11	NFIC	chr12:122907620-122908231	GM12878	blood:	n/a	n/a
12	BCL3	chr12:122907376-122908477	A549	lung:	n/a	chr12:122907453-122907462 chr12:122908089-122908098
13	GABPA	chr12:122907712-122908142	A549	lung:	n/a	n/a
14	POLR2A	chr12:122907886-122908365	A549	lung:	n/a	n/a
15	TBP	chr12:122907423-122908446	Hela-S3	cervix:	n/a	n/a
16	TCF7L2	chr12:122907481-122908325	Hela-S3	cervix:	n/a	chr12:122907620-122907627 chr12:122907826-122907833
17	EBF1	chr12:122907718-122908117	GM12878	blood:	n/a	chr12:122907725-122907734 chr12:122908063-122908072
18	POLR2A	chr12:122905815-122908385	Hela-S3	cervix:	n/a	n/a
19	MYC	chr12:122907658-122908133	H1-hESC	embryonic stem cell:	n/a	chr12:122908038-122908047
20	POLR2A	chr12:122905478-122908917	Hela-S3	cervix:	n/a	n/a
21	MXI1	chr12:122905382-122908556	SK-N-SH	brain:	n/a	chr12:122908358-122908367
22	MAX	chr12:122907243-122908441	A549	lung:	n/a	chr12:122908038-122908047
23	GTF2F1	chr12:122907535-122908524	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr12:122905364-122908744	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr12:122905881-122908872	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr12:122905741-122908876	Hela-S3	cervix:	n/a	n/a
27	NFYA	chr12:122907705-122908400	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr12:122907949-122908301	Gliobla	brain:	n/a	n/a
29	E2F6	chr12:122907911-122908321	K562	blood:	n/a	n/a
30	REST	chr12:122907379-122908348	A549	lung:	n/a	n/a
31	POLR2A	chr12:122907303-122908287	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr12:122906352-122908227	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:122905828-122908836	HepG2	liver:	n/a	n/a
34	POLR2A	chr12:122907902-122908369	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr12:122906123-122908761	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr12:122907957-122908229	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr12:122905998-122908890	K562	blood:	n/a	n/a
38	SIX5	chr12:122907374-122908599	A549	lung:	n/a	n/a
39	SIN3A	chr12:122906172-122908279	H1-hESC	embryonic stem cell:	n/a	chr12:122906213-122906226
40	FOSL2	chr12:122907398-122908377	A549	lung:	n/a	n/a
41	NR2F2	chr12:122907937-122908609	K562	blood:	n/a	n/a
42	POLR2A	chr12:122905861-122908835	HUVEC	blood vessel:	n/a	n/a
43	SIN3AK20	chr12:122907524-122908068	A549	lung:	n/a	n/a
44	POLR2A	chr12:122907908-122908407	A549	lung:	n/a	n/a
45	SMARCB1	chr12:122906156-122908229	Hela-S3	cervix:	n/a	n/a
46	MAX	chr12:122905479-122908690	A549	lung:	n/a	chr12:122908038-122908047 chr12:122906869-122906879
47	POLR2A	chr12:122906054-122908660	PFSK-1	brain:	n/a	n/a
48	POLR2A	chr12:122905806-122908745	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr12:122907324-122908872	PFSK-1	brain:	n/a	n/a
50	KAP1	chr12:122907653-122908556	HEK293	kidney:	n/a	n/a

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	chr12:122905580..122908414-chr12:122982278..122985321,3	K562	blood:
7	chr1:159894566..159895411-chr12:122907645..122908495,2	Hela-S3	cervix:
8	chr12:122906075..122908078-chr12:122966404..122968368,2	MCF-7	breast:
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	chr12:122905004..122910047-chr12:122982684..122986625,7	MCF-7	breast:
15	chr10:32344743..32345244-chr12:122907567..122908541,2	Hela-S3	cervix:

Variant related genes	Relation type
CLIP1	TF binding region
ENSG00000033030	Chromatin interaction
ENSG00000158710	Chromatin interaction
ENSG00000257097	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000184445	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:127 , 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	chr12:122905800-122908000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr12:122905800-122908000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:122905800-122908200	Active TSS	NHDF-Ad	bronchial
9	chr12:122905800-122908600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr12:122905800-122908600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr12:122906000-122908000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:122906000-122908000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:122906000-122908000	Active TSS	Ovary	ovary
14	chr12:122906000-122908000	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr12:122906000-122908000	Active TSS	Small Intestine	intestine
16	chr12:122906000-122908000	Active TSS	Hela-S3	cervix
17	chr12:122906000-122908200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:122906000-122908200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:122906000-122908200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr12:122906000-122908200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:122906000-122908200	Active TSS	Fetal Kidney	kidney
22	chr12:122906000-122908200	Active TSS	A549	lung
23	chr12:122906000-122908400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:122906200-122908000	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr12:122906200-122908200	Active TSS	H1 Cell Line	embryonic stem cell
26	chr12:122906200-122908200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr12:122906200-122908200	Active TSS	Gastric	stomach
28	chr12:122906200-122908400	Active TSS	Lung	lung
29	chr12:122907000-122908000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:122907400-122908000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:122907400-122908000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
32	chr12:122907400-122908000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr12:122907400-122908000	Flanking Active TSS	Stomach Mucosa	stomach
34	chr12:122907400-122908200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr12:122907400-122908200	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr12:122907400-122908200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr12:122907400-122908200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:122907400-122908200	Flanking Active TSS	Colonic Mucosa	Colon
39	chr12:122907400-122908200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr12:122907400-122908200	Flanking Active TSS	Fetal Muscle Trunk	muscle
41	chr12:122907400-122908200	Flanking Active TSS	GM12878-XiMat	blood
42	chr12:122907400-122908200	Flanking Active TSS	HUVEC	blood vessel
43	chr12:122907400-122908400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:122907400-122908400	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr12:122907400-122908400	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr12:122907400-122908400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr12:122907400-122908400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr12:122907400-122908400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:122907400-122908400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:122907400-122908400	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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