Variant report

Variant	rs189109085
Chromosome Location	chr12:104234764-104234765
allele	C/T
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	MAX	chr12:104234696-104235515	SK-N-SH	brain:	n/a	chr12:104235191-104235200 chr12:104235040-104235050 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049
2	POLR2A	chr12:104234655-104235137	HUVEC	blood vessel:	n/a	n/a
3	ZEB1	chr12:104234600-104234849	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:104234466-104235101	H1-hESC	embryonic stem cell:	n/a	n/a
5	TCF12	chr12:104234709-104236111	A549	lung:	n/a	chr12:104235317-104235324 chr12:104235385-104235395
6	HEY1	chr12:104234694-104235099	K562	blood:	n/a	chr12:104235060-104235075
7	TAF1	chr12:104234676-104235131	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr12:104234478-104236053	HepG2	liver:	n/a	chr12:104235191-104235200 chr12:104235040-104235050 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049
9	BCLAF1	chr12:104234753-104235110	GM12878	blood:	n/a	n/a
10	MAX	chr12:104234611-104236055	Hela-S3	cervix:	n/a	chr12:104235191-104235200 chr12:104235040-104235050 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049
11	YY1	chr12:104234724-104235069	GM12892	blood:	n/a	n/a
12	RCOR1	chr12:104234603-104236081	K562	blood:	n/a	n/a
13	MAZ	chr12:104234555-104235963	HepG2	liver:	n/a	chr12:104235191-104235200 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049
14	MYC	chr12:104234347-104236046	MCF10A-Er-Src	breast:	n/a	chr12:104235191-104235200 chr12:104235040-104235050 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049
15	POLR2A	chr12:104234543-104235108	GM12878	blood:	n/a	n/a
16	MAX	chr12:104234641-104235946	K562	blood:	n/a	chr12:104235191-104235200 chr12:104235040-104235050 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049
17	MAX	chr12:104234421-104236110	NB4	blood:	n/a	chr12:104235191-104235200 chr12:104235040-104235050 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049
18	MAX	chr12:104234529-104235219	GM12878	blood:	n/a	chr12:104235191-104235200 chr12:104235040-104235050 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235042-104235049
19	MYC	chr12:104234587-104236037	Hela-S3	cervix:	n/a	chr12:104235191-104235200 chr12:104235040-104235050 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049
20	MAX	chr12:104234517-104236114	HCT-116	colon:	n/a	chr12:104235191-104235200 chr12:104235040-104235050 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049
21	TAF1	chr12:104234341-104235800	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr12:104234743-104236126	K562	blood:	n/a	n/a
23	USF1	chr12:104234734-104235290	ECC-1	luminal epithelium:	n/a	chr12:104235040-104235051 chr12:104235197-104235213 chr12:104234978-104234994
24	POLR2A	chr12:104234553-104236057	Hela-S3	cervix:	n/a	n/a
25	TAF1	chr12:104234553-104235395	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:104234593-104235118	ECC-1	luminal epithelium:	n/a	n/a
27	RAD21	chr12:104234711-104235122	H1-hESC	embryonic stem cell:	n/a	n/a
28	E2F6	chr12:104234686-104235404	K562	blood:	n/a	chr12:104234693-104234703
29	EGR1	chr12:104234211-104236032	HCT-116	colon:	n/a	chr12:104235534-104235549 chr12:104234375-104234389 chr12:104234376-104234387 chr12:104235113-104235127 chr12:104234376-104234387 chr12:104235150-104235164 chr12:104235536-104235547 chr12:104235230-104235239 chr12:104234371-104234393 chr12:104235720-104235734 chr12:104235133-104235147 chr12:104234377-104234387 chr12:104234375-104234388 chr12:104234376-104234390 chr12:104235085-104235099 chr12:104235227-104235240 chr12:104235227-104235240 chr12:104234377-104234387
30	E2F6	chr12:104234743-104235151	A549	lung:	n/a	n/a
31	CHD2	chr12:104234598-104236048	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr12:104234676-104235106	HUVEC	blood vessel:	n/a	n/a
33	E2F6	chr12:104234575-104235339	H1-hESC	embryonic stem cell:	n/a	chr12:104234652-104234666 chr12:104234693-104234703
34	BCLAF1	chr12:104234712-104235092	K562	blood:	n/a	n/a
35	SIN3A	chr12:104234599-104235371	GM12878	blood:	n/a	chr12:104234669-104234680 chr12:104235304-104235315 chr12:104235302-104235315
36	POLR2A	chr12:104234542-104236234	PFSK-1	brain:	n/a	n/a
37	SIN3AK20	chr12:104234490-104235772	K562	blood:	n/a	n/a
38	REST	chr12:104234039-104235378	H1-neurons	neurons:	n/a	chr12:104235302-104235315 chr12:104235366-104235375 chr12:104235191-104235204
39	USF1	chr12:104234561-104235358	HCT-116	colon:	n/a	chr12:104235040-104235051 chr12:104234691-104234707 chr12:104235197-104235213 chr12:104234978-104234994
40	POLR2A	chr12:104234518-104235136	HCT-116	colon:	n/a	n/a
41	POLR2A	chr12:104234577-104235936	HepG2	liver:	n/a	n/a
42	GATA3	chr12:104234670-104236118	A549	lung:	n/a	chr12:104235854-104235863 chr12:104235851-104235860
43	MAZ	chr12:104234528-104236014	Hela-S3	cervix:	n/a	chr12:104235191-104235200 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049
44	ETS1	chr12:104234409-104235107	K562	blood:	n/a	n/a
45	IRF1	chr12:104234634-104235860	K562	blood:	n/a	n/a
46	MXI1	chr12:104233534-104236201	SK-N-SH	brain:	n/a	n/a
47	EGR1	chr12:104234652-104235920	K562	blood:	n/a	chr12:104235534-104235549 chr12:104235113-104235127 chr12:104235150-104235164 chr12:104235536-104235547 chr12:104235230-104235239 chr12:104235720-104235734 chr12:104235133-104235147 chr12:104235085-104235099 chr12:104235227-104235240 chr12:104235227-104235240
48	POLR2A	chr12:104234673-104235498	HL-60	blood:	n/a	n/a
49	YY1	chr12:104234583-104234840	K562	blood:	n/a	n/a
50	TAF1	chr12:104234701-104235543	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104156601..104158304-chr12:104234434..104236510,2	MCF-7	breast:
2	chr12:104192525..104200371-chr12:104233987..104238967,10	MCF-7	breast:
3	chr12:104234723..104236733-chr12:104679840..104682489,2	K562	blood:
4	chr12:104234711..104235696-chr20:1875093..1875760,2	NB4	blood:
5	chr12:104233909..104239694-chr12:104322835..104327398,8	K562	blood:
6	chr12:104160749..104162806-chr12:104234443..104236279,2	MCF-7	breast:
7	chr12:72057709..72058670-chr12:104234719..104235282,2	Hela-S3	cervix:
8	chr12:104234687..104235662-chr5:217951..218516,2	Hela-S3	cervix:
9	chr12:104234533..104235240-chr19:10513828..10514503,2	NB4	blood:
10	chr12:104186150..104188258-chr12:104233575..104235121,2	K562	blood:
11	chr12:104211319..104217420-chr12:104233507..104236073,8	MCF-7	breast:
12	chr12:104219162..104221997-chr12:104232338..104234895,2	K562	blood:
13	chr12:104234047..104236214-chr12:104531313..104532962,2	MCF-7	breast:
14	chr12:104233429..104235958-chr12:104358438..104361946,3	MCF-7	breast:
15	chr12:104234073..104236683-chr12:104349820..104352847,3	K562	blood:
16	chr12:104186877..104189949-chr12:104233437..104236104,3	MCF-7	breast:
17	chr12:104233800..104236223-chr12:104679514..104682489,2	K562	blood:
18	chr12:104208263..104213427-chr12:104233273..104236383,5	K562	blood:
19	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:
20	chr12:104234500..104235335-chr20:47894521..47895210,2	HCT-116	colon:
21	chr12:104233713..104237034-chr12:104348727..104352026,4	MCF-7	breast:
22	chr12:104234482..104235223-chr8:101964322..101965093,2	Hela-S3	cervix:
23	chr12:104233715..104236918-chr12:104321893..104325386,6	K562	blood:
24	chr10:105155976..105156525-chr12:104234738..104235627,2	NB4	blood:
25	chr12:104234703..104235400-chr13:52026637..52027270,2	Hela-S3	cervix:
26	chr12:104234444..104235161-chr2:232571302..232572104,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000257327	TF binding region
ENSG00000265072	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000269363	Chromatin interaction
ENSG00000105401	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000136011	Chromatin interaction
ENSG00000177410	Chromatin interaction
ENSG00000221566	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000257754	Chromatin interaction
ENSG00000148843	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000173915	Chromatin interaction
ENSG00000073578	Chromatin interaction
ENSG00000198053	Chromatin interaction
ENSG00000187514	Chromatin interaction
ENSG00000124201	Chromatin interaction
ENSG00000173451	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000164366	Chromatin interaction
ENSG00000133858	Chromatin interaction
ENSG00000102786	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000257681	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	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3372343	chr12:104234047-104236595	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104231800-104235400	Active TSS	Stomach Smooth Muscle	stomach
2	chr12:104231800-104236000	Active TSS	Rectal Smooth Muscle	rectum
3	chr12:104232000-104236000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:104232200-104235600	Active TSS	Aorta	Aorta
5	chr12:104232400-104235800	Active TSS	Colon Smooth Muscle	Colon
6	chr12:104232800-104235400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr12:104233000-104235800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:104233000-104236000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr12:104233400-104235400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr12:104233400-104236000	Active TSS	Fetal Brain Female	brain
11	chr12:104233600-104234800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr12:104233600-104235600	Active TSS	HSMMtube	muscle
13	chr12:104233600-104235800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:104233600-104236000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr12:104233600-104236000	Active TSS	Brain Substantia Nigra	brain
16	chr12:104233800-104235400	Bivalent/Poised TSS	Fetal Stomach	stomach
17	chr12:104233800-104235400	Active TSS	NHLF	lung
18	chr12:104233800-104235800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:104233800-104235800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr12:104234000-104234800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:104234000-104234800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr12:104234000-104234800	Flanking Bivalent TSS/Enh	Thymus	Thymus
23	chr12:104234000-104235400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:104234000-104235400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:104234000-104235400	Active TSS	HMEC	breast
26	chr12:104234000-104235600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:104234000-104235600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:104234000-104235600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:104234000-104235600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:104234000-104235600	Active TSS	Left Ventricle	heart
31	chr12:104234000-104235600	Active TSS	HepG2	liver
32	chr12:104234000-104235600	Active TSS	NHDF-Ad	bronchial
33	chr12:104234000-104235800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:104234000-104235800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:104234000-104235800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:104234000-104235800	Active TSS	Esophagus	oesophagus
37	chr12:104234000-104235800	Active TSS	A549	lung
38	chr12:104234000-104235800	Active TSS	Hela-S3	cervix
39	chr12:104234000-104236000	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr12:104234000-104236000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:104234000-104236000	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr12:104234000-104236000	Active TSS	Colonic Mucosa	Colon
43	chr12:104234000-104236000	Active TSS	Fetal Kidney	kidney
44	chr12:104234200-104234800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:104234200-104234800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:104234200-104234800	Enhancers	Fetal Brain Male	brain
47	chr12:104234200-104235200	Transcr. at gene 5' and 3'	Right Atrium	heart
48	chr12:104234200-104235400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:104234200-104235400	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr12:104234200-104235400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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