Variant report

Variant	rs192506732
Chromosome Location	chr12:104234512-104234513
allele	C/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	RUNX3	chr12:104234310-104234663	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:104234466-104235101	H1-hESC	embryonic stem cell:	n/a	n/a
3	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
4	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
5	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
6	EGR1	chr12:104234258-104234583	GM12878	blood:	n/a	chr12:104234375-104234389 chr12:104234376-104234387 chr12:104234376-104234387 chr12:104234371-104234393 chr12:104234377-104234387 chr12:104234375-104234388 chr12:104234376-104234390 chr12:104234377-104234387
7	TAF1	chr12:104234341-104235800	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3AK20	chr12:104234430-104234665	H1-hESC	embryonic stem cell:	n/a	n/a
9	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
10	SIN3AK20	chr12:104234490-104235772	K562	blood:	n/a	n/a
11	REST	chr12:104234039-104235378	H1-neurons	neurons:	n/a	chr12:104235302-104235315 chr12:104235366-104235375 chr12:104235191-104235204
12	ETS1	chr12:104234409-104235107	K562	blood:	n/a	n/a
13	MXI1	chr12:104233534-104236201	SK-N-SH	brain:	n/a	n/a
14	E2F1	chr12:104234491-104235421	Hela-S3	cervix:	n/a	chr12:104234652-104234666 chr12:104234693-104234703 chr12:104234504-104234511
15	HMGN3	chr12:104234451-104235849	K562	blood:	n/a	n/a
16	EGR1	chr12:104234183-104234560	K562	blood:	n/a	chr12:104234375-104234389 chr12:104234376-104234387 chr12:104234376-104234387 chr12:104234371-104234393 chr12:104234377-104234387 chr12:104234375-104234388 chr12:104234376-104234390 chr12:104234377-104234387
17	SIN3AK20	chr12:104233874-104236425	MCF-7	breast:	n/a	n/a
18	POLR2A	chr12:104234364-104235222	GM19193	blood:	n/a	n/a
19	HCFC1	chr12:104234445-104236211	Hela-S3	cervix:	n/a	n/a
20	SIN3A	chr12:104234316-104235838	H1-hESC	embryonic stem cell:	n/a	chr12:104234669-104234680 chr12:104235304-104235315 chr12:104235302-104235315
21	EBF1	chr12:104234208-104234638	GM12878	blood:	n/a	chr12:104234395-104234404 chr12:104234393-104234404 chr12:104234395-104234404 chr12:104234395-104234405
22	KAT2A	chr12:104234218-104235011	Hela-S3	cervix:	n/a	n/a
23	MXI1	chr12:104233369-104236110	IMR90	lung:	n/a	n/a
24	EBF1	chr12:104234214-104234607	GM12878	blood:	n/a	chr12:104234395-104234404 chr12:104234393-104234404 chr12:104234395-104234404 chr12:104234395-104234405
25	MAX	chr12:104234176-104236277	A549	lung:	n/a	chr12:104235191-104235200 chr12:104235040-104235050 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049
26	MAX	chr12:104234509-104235983	ECC-1	luminal epithelium:	n/a	chr12:104235191-104235200 chr12:104235040-104235050 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049
27	HA-E2F1	chr12:104234409-104235046	MCF-7	breast:	n/a	chr12:104234652-104234666 chr12:104234693-104234703 chr12:104234504-104234511
28	ELF1	chr12:104234459-104235140	GM12878	blood:	n/a	chr12:104235066-104235078
29	POLR2A	chr12:104234238-104236223	Hela-S3	cervix:	n/a	n/a
30	TFAP2C	chr12:104234461-104236197	Hela-S3	cervix:	n/a	chr12:104235827-104235842 chr12:104234617-104234632
31	E2F6	chr12:104234472-104235352	A549	lung:	n/a	chr12:104234652-104234666 chr12:104234693-104234703 chr12:104234504-104234511
32	MAX	chr12:104234283-104236007	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
33	MYC	chr12:104234459-104236105	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
34	RAD21	chr12:104234222-104234591	IMR90	lung:	n/a	chr12:104234577-104234591
35	POLR2A	chr12:104234139-104235191	IMR90	lung:	n/a	n/a
36	SIN3AK20	chr12:104234332-104234574	SK-N-SH	brain:	n/a	n/a
37	CREB1	chr12:104234512-104236075	A549	lung:	n/a	n/a
38	NFIC	chr12:104234128-104234582	GM12878	blood:	n/a	n/a
39	ZEB1	chr12:104234443-104235106	GM12878	blood:	n/a	n/a
40	EGR1	chr12:104234021-104236169	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
41	NFATC1	chr12:104234220-104234574	GM12878	blood:	n/a	n/a
42	MYC	chr12:104234340-104235848	A549	lung:	n/a	chr12:104235191-104235200 chr12:104235040-104235050 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049
43	POLR2A	chr12:104234279-104236028	H1-hESC	embryonic stem cell:	n/a	n/a
44	MXI1	chr12:104234462-104235231	Hela-S3	cervix:	n/a	n/a
45	STAT5A	chr12:104234394-104234731	GM12878	blood:	n/a	n/a
46	SMC3	chr12:104234377-104236185	Hela-S3	cervix:	n/a	chr12:104234681-104234691
47	POLR2A	chr12:104234410-104235569	GM18526	blood:	n/a	n/a
48	CCNT2	chr12:104234430-104235454	K562	blood:	n/a	n/a
49	MAZ	chr12:104234025-104236471	IMR90	lung:	n/a	chr12:104235191-104235200 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049
50	MAX	chr12:104234200-104236140	A549	lung:	n/a	chr12:104235191-104235200 chr12:104235040-104235050 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:104234495-104234545	HEEpiC	esophagus:	n/a
2	chr12:104234495-104234545	AG10803	skin:	n/a
3	chr12:104234495-104234545	RPTEC	kidney:	n/a
4	chr12:104234495-104234545	PrEC	prostate:	n/a
5	chr12:104234495-104234545	Hela-S3	cervix:	n/a
6	chr12:104234495-104234545	Jurkat	blood:	n/a
7	chr12:104234495-104234545	K562	blood:	n/a
8	chr12:104234495-104234545	HUVEC	blood vessel:	n/a
9	chr12:104234495-104234545	CMK	blood:	n/a
10	chr12:104234495-104234545	AG04449	skin:	fetal
11	chr12:104234495-104234545	Caco-2	colon:	n/a
12	chr12:104234495-104234545	HRPEpiC	eye:	n/a
13	chr12:104234495-104234545	AG04450	lung:	fetal
14	chr12:104234495-104234545	GM12891	blood:	n/a
15	chr12:104234495-104234545	ovcar-3	ovarian:	n/a
16	chr12:104234495-104234545	LNCaP	prostate:	n/a
17	chr12:104234495-104234545	GM19239	blood:	n/a
18	chr12:104234495-104234545	MCF-7	breast:	n/a
19	chr12:104234495-104234545	SK-N-MC	brain:	n/a
20	chr12:104234495-104234545	GM06990	blood:	n/a
21	chr12:104234495-104234545	BJ	skin:	n/a
22	chr12:104234495-104234545	SK-N-SH	brain:	n/a
23	chr12:104234495-104234545	AG09319	gingival:	n/a
24	chr12:104234495-104234545	HNPCEpiC	eye:	n/a
25	chr12:104234495-104234545	T-47D	breast:	n/a
26	chr12:104234495-104234545	PANC-1	pancreas:	n/a
27	chr12:104234495-104234545	BE2_C	brain:	n/a
28	chr12:104234495-104234545	HCPEpiC	choroid plexus:	n/a
29	chr12:104234495-104234545	SAEC	small airway:	n/a
30	chr12:104234495-104234545	HRCEpiC	kidney:	n/a
31	chr12:104234495-104234545	MCF10A-Er-Src	breast:	n/a
32	chr12:104234495-104234545	NHDF-neo	bronchial:	n/a
33	chr12:104234495-104234545	HepG2	liver:	n/a
34	chr12:104234495-104234545	HCF	heart:	n/a
35	chr12:104234495-104234545	AG09309	skin:	n/a
36	chr12:104234495-104234545	AoSMC	blood vessel:	n/a
37	chr12:104234495-104234545	PFSK-1	brain:	n/a
38	chr12:104234495-104234545	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:104234495-104234545	HEK293	kidney:	embryo
40	chr12:104234495-104234545	HAEpiC	amniotic membrane:	n/a
41	chr12:104234495-104234545	HMEC	breast:	n/a
42	chr12:104234495-104234545	H1-hESC	embryonic stem cell:	embryo
43	chr12:104234495-104234545	Hepatocyte	liver:	n/a
44	chr12:104234495-104234545	NHBE	bronchial:	n/a
45	chr12:104234495-104234545	HL-60	blood:	n/a
46	chr12:104234495-104234545	NH-A	brain:	n/a
47	chr12:104234495-104234545	GM12878	blood:	n/a
48	chr12:104234495-104234545	A549	lung:	n/a
49	chr12:104234495-104234545	HCT-116	colon:	n/a
50	chr12:104234495-104234545	IMR90	lung:	fetal

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	chr12:104233909..104239694-chr12:104322835..104327398,8	K562	blood:
4	chr12:104160749..104162806-chr12:104234443..104236279,2	MCF-7	breast:
5	chr12:104186150..104188258-chr12:104233575..104235121,2	K562	blood:
6	chr12:104211319..104217420-chr12:104233507..104236073,8	MCF-7	breast:
7	chr12:104219162..104221997-chr12:104232338..104234895,2	K562	blood:
8	chr12:104234047..104236214-chr12:104531313..104532962,2	MCF-7	breast:
9	chr12:104233429..104235958-chr12:104358438..104361946,3	MCF-7	breast:
10	chr12:104234073..104236683-chr12:104349820..104352847,3	K562	blood:
11	chr12:104186877..104189949-chr12:104233437..104236104,3	MCF-7	breast:
12	chr12:104233800..104236223-chr12:104679514..104682489,2	K562	blood:
13	chr12:104208263..104213427-chr12:104233273..104236383,5	K562	blood:
14	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:
15	chr12:104234500..104235335-chr20:47894521..47895210,2	HCT-116	colon:
16	chr12:104233713..104237034-chr12:104348727..104352026,4	MCF-7	breast:
17	chr12:104234482..104235223-chr8:101964322..101965093,2	Hela-S3	cervix:
18	chr12:104233715..104236918-chr12:104321893..104325386,6	K562	blood:
19	chr12:104234444..104235161-chr2:232571302..232572104,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000257327	TF binding region
ENSG00000257327	CpG island
ENSG00000265072	Chromatin interaction
ENSG00000187514	Chromatin interaction
ENSG00000177410	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000136011	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000269363	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000257754	Chromatin interaction
ENSG00000257681	Chromatin interaction
ENSG00000124201	Chromatin interaction
ENSG00000111696	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	chr12:104233400-104234600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr12:104233400-104235400	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr12:104233400-104236000	Active TSS	Fetal Brain Female	brain
12	chr12:104233600-104234600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:104233600-104234600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr12:104233600-104234800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr12:104233600-104235600	Active TSS	HSMMtube	muscle
16	chr12:104233600-104235800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:104233600-104236000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr12:104233600-104236000	Active TSS	Brain Substantia Nigra	brain
19	chr12:104233800-104234600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr12:104233800-104234600	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr12:104233800-104234600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:104233800-104234600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr12:104233800-104234600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
24	chr12:104233800-104234600	Flanking Active TSS	Placenta	Placenta
25	chr12:104233800-104235400	Bivalent/Poised TSS	Fetal Stomach	stomach
26	chr12:104233800-104235400	Active TSS	NHLF	lung
27	chr12:104233800-104235800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:104233800-104235800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr12:104234000-104234600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr12:104234000-104234600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:104234000-104234600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:104234000-104234600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:104234000-104234800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:104234000-104234800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr12:104234000-104234800	Flanking Bivalent TSS/Enh	Thymus	Thymus
36	chr12:104234000-104235400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:104234000-104235400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:104234000-104235400	Active TSS	HMEC	breast
39	chr12:104234000-104235600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:104234000-104235600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:104234000-104235600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:104234000-104235600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:104234000-104235600	Active TSS	Left Ventricle	heart
44	chr12:104234000-104235600	Active TSS	HepG2	liver
45	chr12:104234000-104235600	Active TSS	NHDF-Ad	bronchial
46	chr12:104234000-104235800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:104234000-104235800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:104234000-104235800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:104234000-104235800	Active TSS	Esophagus	oesophagus
50	chr12:104234000-104235800	Active TSS	A549	lung

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