Variant report

Variant	rs527702806
Chromosome Location	chr12:104235164-104235165
allele	-/CGGGG
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	chr12:104235151-104235414	GM12878	blood:	n/a	n/a
3	SP1	chr12:104234837-104235793	H1-hESC	embryonic stem cell:	n/a	chr12:104235372-104235384 chr12:104235372-104235384 chr12:104235373-104235383
4	MYC	chr12:104234913-104235188	MCF10A-Er-Src	breast:	n/a	chr12:104235040-104235050 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235042-104235049
5	TCF12	chr12:104234709-104236111	A549	lung:	n/a	chr12:104235317-104235324 chr12:104235385-104235395
6	POLR2A	chr12:104235158-104235352	H1-hESC	embryonic stem cell:	n/a	n/a
7	NR2F2	chr12:104235143-104236115	K562	blood:	n/a	n/a
8	USF2	chr12:104234867-104235215	GM12878	blood:	n/a	chr12:104235197-104235213 chr12:104234978-104234994
9	SP1	chr12:104234838-104236128	A549	lung:	n/a	chr12:104235372-104235384 chr12:104235372-104235384 chr12:104235373-104235383
10	MAX	chr12:104234797-104235289	A549	lung:	n/a	chr12:104235191-104235200 chr12:104235040-104235050 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235042-104235049
11	PBX3	chr12:104234828-104235924	A549	lung:	n/a	n/a
12	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
13	SP1	chr12:104234821-104235271	HepG2	liver:	n/a	n/a
14	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
15	RCOR1	chr12:104234603-104236081	K562	blood:	n/a	n/a
16	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
17	SP4	chr12:104234846-104235229	H1-hESC	embryonic stem cell:	n/a	n/a
18	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
19	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
20	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
21	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
22	USF1	chr12:104234842-104235288	SK-N-SH	brain:	n/a	chr12:104235040-104235051 chr12:104235197-104235213 chr12:104234978-104234994
23	BHLHE40	chr12:104234855-104235930	K562	blood:	n/a	chr12:104235712-104235728 chr12:104235197-104235213 chr12:104234978-104234994
24	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
25	POLR2A	chr12:104234857-104235222	SK-N-MC	brain:	n/a	n/a
26	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
27	TAF1	chr12:104234341-104235800	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr12:104235080-104235230	GM12869	blood:	n/a	n/a
29	POLR2A	chr12:104234743-104236126	K562	blood:	n/a	n/a
30	USF1	chr12:104234734-104235290	ECC-1	luminal epithelium:	n/a	chr12:104235040-104235051 chr12:104235197-104235213 chr12:104234978-104234994
31	POLR2A	chr12:104234553-104236057	Hela-S3	cervix:	n/a	n/a
32	TAF1	chr12:104234553-104235395	HepG2	liver:	n/a	n/a
33	HEY1	chr12:104235148-104235358	HepG2	liver:	n/a	chr12:104235297-104235312
34	E2F6	chr12:104234686-104235404	K562	blood:	n/a	chr12:104234693-104234703
35	USF1	chr12:104234820-104235357	K562	blood:	n/a	chr12:104235040-104235051 chr12:104235197-104235213 chr12:104234978-104234994
36	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
37	CHD2	chr12:104234598-104236048	Hela-S3	cervix:	n/a	n/a
38	E2F6	chr12:104234575-104235339	H1-hESC	embryonic stem cell:	n/a	chr12:104234652-104234666 chr12:104234693-104234703
39	USF1	chr12:104234834-104235317	K562	blood:	n/a	chr12:104235040-104235051 chr12:104235197-104235213 chr12:104234978-104234994
40	SIN3A	chr12:104234599-104235371	GM12878	blood:	n/a	chr12:104234669-104234680 chr12:104235304-104235315 chr12:104235302-104235315
41	POLR2A	chr12:104234542-104236234	PFSK-1	brain:	n/a	n/a
42	USF1	chr12:104234891-104235251	H1-hESC	embryonic stem cell:	n/a	chr12:104235040-104235051 chr12:104235197-104235213 chr12:104234978-104234994
43	SIN3AK20	chr12:104234490-104235772	K562	blood:	n/a	n/a
44	REST	chr12:104234039-104235378	H1-neurons	neurons:	n/a	chr12:104235302-104235315 chr12:104235366-104235375 chr12:104235191-104235204
45	USF1	chr12:104234561-104235358	HCT-116	colon:	n/a	chr12:104235040-104235051 chr12:104234691-104234707 chr12:104235197-104235213 chr12:104234978-104234994
46	MXI1	chr12:104234854-104235191	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr12:104234577-104235936	HepG2	liver:	n/a	n/a
48	SIN3AK20	chr12:104234875-104235393	HepG2	liver:	n/a	n/a
49	GATA3	chr12:104234670-104236118	A549	lung:	n/a	chr12:104235854-104235863 chr12:104235851-104235860
50	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

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	chr12:104211319..104217420-chr12:104233507..104236073,8	MCF-7	breast:
11	chr12:104234047..104236214-chr12:104531313..104532962,2	MCF-7	breast:
12	chr12:104233429..104235958-chr12:104358438..104361946,3	MCF-7	breast:
13	chr12:104234073..104236683-chr12:104349820..104352847,3	K562	blood:
14	chr12:104186877..104189949-chr12:104233437..104236104,3	MCF-7	breast:
15	chr12:104233800..104236223-chr12:104679514..104682489,2	K562	blood:
16	chr12:104208263..104213427-chr12:104233273..104236383,5	K562	blood:
17	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:
18	chr12:104234500..104235335-chr20:47894521..47895210,2	HCT-116	colon:
19	chr12:104233713..104237034-chr12:104348727..104352026,4	MCF-7	breast:
20	chr12:104234967..104235629-chr17:73936754..73937403,2	Hela-S3	cervix:
21	chr12:104234482..104235223-chr8:101964322..101965093,2	Hela-S3	cervix:
22	chr12:56123120..56123867-chr12:104234782..104235765,2	Hela-S3	cervix:
23	chr12:104233715..104236918-chr12:104321893..104325386,6	K562	blood:
24	chr12:104234789..104235563-chr4:99916598..99917296,2	Hela-S3	cervix:
25	chr10:105155976..105156525-chr12:104234738..104235627,2	NB4	blood:
26	chr12:104235142..104235987-chr6:86388387..86389071,2	Hela-S3	cervix:
27	chr12:104234703..104235400-chr13:52026637..52027270,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000257327	TF binding region
NT5DC3	TF binding region
ENSG00000214198	Chromatin interaction
ENSG00000198053	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000105401	Chromatin interaction
ENSG00000136011	Chromatin interaction
ENSG00000203875	Chromatin interaction
ENSG00000221566	Chromatin interaction
ENSG00000133858	Chromatin interaction
ENSG00000102786	Chromatin interaction
ENSG00000188878	Chromatin interaction
ENSG00000177410	Chromatin interaction
ENSG00000173451	Chromatin interaction
ENSG00000164366	Chromatin interaction
ENSG00000257681	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000173915	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000164024	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000124201	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000073578	Chromatin interaction
ENSG00000148843	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000257754	Chromatin interaction
ENSG00000164924	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	chr12:104233600-104235600	Active TSS	HSMMtube	muscle
12	chr12:104233600-104235800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:104233600-104236000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr12:104233600-104236000	Active TSS	Brain Substantia Nigra	brain
15	chr12:104233800-104235400	Bivalent/Poised TSS	Fetal Stomach	stomach
16	chr12:104233800-104235400	Active TSS	NHLF	lung
17	chr12:104233800-104235800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:104233800-104235800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr12:104234000-104235400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:104234000-104235400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:104234000-104235400	Active TSS	HMEC	breast
22	chr12:104234000-104235600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:104234000-104235600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:104234000-104235600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:104234000-104235600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:104234000-104235600	Active TSS	Left Ventricle	heart
27	chr12:104234000-104235600	Active TSS	HepG2	liver
28	chr12:104234000-104235600	Active TSS	NHDF-Ad	bronchial
29	chr12:104234000-104235800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:104234000-104235800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:104234000-104235800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:104234000-104235800	Active TSS	Esophagus	oesophagus
33	chr12:104234000-104235800	Active TSS	A549	lung
34	chr12:104234000-104235800	Active TSS	Hela-S3	cervix
35	chr12:104234000-104236000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr12:104234000-104236000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:104234000-104236000	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr12:104234000-104236000	Active TSS	Colonic Mucosa	Colon
39	chr12:104234000-104236000	Active TSS	Fetal Kidney	kidney
40	chr12:104234200-104235200	Transcr. at gene 5' and 3'	Right Atrium	heart
41	chr12:104234200-104235400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:104234200-104235400	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr12:104234200-104235400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:104234200-104235400	Active TSS	Muscle Satellite Cultured Cells	--
45	chr12:104234200-104235400	Active TSS	Duodenum Mucosa	Duodenum
46	chr12:104234200-104235400	Active TSS	Fetal Intestine Large	intestine
47	chr12:104234200-104235400	Active TSS	Pancreas	Pancrea
48	chr12:104234200-104235400	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr12:104234200-104235400	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr12:104234200-104235400	Active TSS	GM12878-XiMat	blood

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