Variant report

Variant	rs567250865
Chromosome Location	chr12:104351273-104351274
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	SIN3A	chr12:104350273-104351494	H1-hESC	embryonic stem cell:	n/a	chr12:104350999-104351012
2	CHD2	chr12:104350805-104351420	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOS	chr12:104350898-104351465	MCF10A-Er-Src	breast:	n/a	chr12:104351146-104351157
4	MAX	chr12:104349962-104351635	HepG2	liver:	n/a	chr12:104351043-104351052
5	TAF1	chr12:104350278-104351506	A549	lung:	n/a	n/a
6	TCF12	chr12:104350667-104351570	A549	lung:	n/a	n/a
7	ARID3A	chr12:104350906-104351590	K562	blood:	n/a	n/a
8	FOXM1	chr12:104350444-104351562	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr12:104351114-104351302	SK-N-SH	brain:	n/a	n/a
10	MYC	chr12:104350137-104351486	H1-hESC	embryonic stem cell:	n/a	chr12:104351043-104351052
11	PRDM1	chr12:104351113-104351494	Hela-S3	cervix:	n/a	chr12:104351149-104351158
12	POLR2A	chr12:104350260-104351550	HUVEC	blood vessel:	n/a	n/a
13	YY1	chr12:104350759-104351302	H1-hESC	embryonic stem cell:	n/a	chr12:104351031-104351045
14	POLR2A	chr12:104350391-104351315	Gliobla	brain:	n/a	n/a
15	KAP1	chr12:104350723-104351532	U2OS	brain:	n/a	n/a
16	POLR2A	chr12:104350439-104351592	GM12892	blood:	n/a	n/a
17	IRF1	chr12:104350719-104351559	K562	blood:	n/a	chr12:104350808-104350822 chr12:104350808-104350821 chr12:104350808-104350820 chr12:104350811-104350821
18	POLR2A	chr12:104350648-104351581	K562	blood:	n/a	n/a
19	POLR2A	chr12:104350716-104351488	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr12:104350550-104351570	K562	blood:	n/a	n/a
21	BCL3	chr12:104350067-104351659	A549	lung:	n/a	chr12:104350626-104350635 chr12:104351030-104351043
22	CUX1	chr12:104350839-104351549	K562	blood:	n/a	chr12:104351494-104351505
23	RCOR1	chr12:104350602-104351555	K562	blood:	n/a	n/a
24	FOS	chr12:104350863-104351339	MCF10A-Er-Src	breast:	n/a	chr12:104351146-104351157
25	USF1	chr12:104350727-104351314	SK-N-SH_RA	brain:	n/a	chr12:104351042-104351053 chr12:104351043-104351052 chr12:104351037-104351058 chr12:104351042-104351051 chr12:104351044-104351053 chr12:104351041-104351054 chr12:104351043-104351052
26	SRF	chr12:104350637-104351528	MCF-7	breast:	n/a	n/a
27	POLR2A	chr12:104350611-104351611	SK-N-SH	brain:	n/a	n/a
28	MAX	chr12:104350034-104351452	SK-N-SH	brain:	n/a	chr12:104351043-104351052
29	REST	chr12:104351238-104351564	K562	blood:	n/a	n/a
30	PML	chr12:104350468-104351537	K562	blood:	n/a	n/a
31	SP4	chr12:104350616-104351467	H1-hESC	embryonic stem cell:	n/a	n/a
32	USF2	chr12:104350853-104351339	HepG2	liver:	n/a	chr12:104351043-104351052 chr12:104351037-104351058 chr12:104351042-104351051 chr12:104351044-104351053 chr12:104351041-104351052 chr12:104351041-104351054 chr12:104351043-104351052
33	EP300	chr12:104350830-104351282	T-47D	breast:	n/a	n/a
34	POLR2A	chr12:104350363-104351459	HepG2	liver:	n/a	n/a
35	ZNF143	chr12:104350636-104351441	H1-hESC	embryonic stem cell:	n/a	chr12:104351034-104351044
36	EP300	chr12:104350817-104351497	GM12878	blood:	n/a	n/a
37	MAX	chr12:104350392-104351486	K562	blood:	n/a	chr12:104351043-104351052
38	USF1	chr12:104349963-104351527	HCT-116	colon:	n/a	chr12:104351042-104351053 chr12:104351043-104351052 chr12:104351037-104351058 chr12:104351042-104351051 chr12:104351044-104351053 chr12:104351041-104351054 chr12:104351043-104351052
39	GABPA	chr12:104350588-104351548	A549	lung:	n/a	chr12:104350830-104350839 chr12:104350803-104350810
40	ZC3H11A	chr12:104350835-104351403	K562	blood:	n/a	n/a
41	STAT3	chr12:104350941-104351440	MCF10A-Er-Src	breast:	n/a	chr12:104351168-104351179
42	TBP	chr12:104350737-104351558	Hela-S3	cervix:	n/a	n/a
43	PAX5	chr12:104350691-104351447	GM12892	blood:	n/a	chr12:104350857-104350866 chr12:104351055-104351064
44	POLR2A	chr12:104349811-104351396	ECC-1	luminal epithelium:	n/a	n/a
45	PAX5	chr12:104350671-104351434	GM12878	blood:	n/a	chr12:104350857-104350866 chr12:104351055-104351064
46	NFYA	chr12:104350843-104351290	Hela-S3	cervix:	n/a	n/a
47	TAF1	chr12:104350132-104351320	H1-hESC	embryonic stem cell:	n/a	n/a
48	TAF1	chr12:104350366-104351508	H1-neurons	neurons:	n/a	n/a
49	USF1	chr12:104350474-104351518	A549	lung:	n/a	chr12:104351042-104351053 chr12:104351043-104351052 chr12:104351037-104351058 chr12:104351042-104351051 chr12:104351044-104351053 chr12:104351041-104351054 chr12:104351043-104351052
50	REST	chr12:104350647-104351321	PFSK-1	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:104351251-104351301	HMEC	breast:	n/a
2	chr12:104351251-104351301	PANC-1	pancreas:	n/a
3	chr12:104351251-104351301	GM12892	blood:	n/a
4	chr12:104351251-104351301	AG09319	gingival:	n/a
5	chr12:104351251-104351301	HEEpiC	esophagus:	n/a
6	chr12:104351251-104351301	H1-hESC	embryonic stem cell:	embryo
7	chr12:104351251-104351301	AoSMC	blood vessel:	n/a
8	chr12:104351251-104351301	LNCaP	prostate:	n/a
9	chr12:104351251-104351301	AG10803	skin:	n/a
10	chr12:104351251-104351301	BJ	skin:	n/a
11	chr12:104351251-104351301	HEK293	kidney:	embryo
12	chr12:104351251-104351301	U87	brain:	n/a
13	chr12:104351251-104351301	Caco-2	colon:	n/a
14	chr12:104351251-104351301	HCF	heart:	n/a
15	chr12:104351251-104351301	HRE	kidney:	n/a
16	chr12:104351251-104351301	NHDF-neo	bronchial:	n/a
17	chr12:104351251-104351301	HRPEpiC	eye:	n/a
18	chr12:104351251-104351301	HepG2	liver:	n/a
19	chr12:104351251-104351301	Hepatocyte	liver:	n/a
20	chr12:104351251-104351301	HCPEpiC	choroid plexus:	n/a
21	chr12:104351251-104351301	ProgFib	skin:	n/a
22	chr12:104351251-104351301	HAEpiC	amniotic membrane:	n/a
23	chr12:104351251-104351301	GM06990	blood:	n/a
24	chr12:104351251-104351301	PFSK-1	brain:	n/a
25	chr12:104351251-104351301	CMK	blood:	n/a
26	chr12:104351251-104351301	BE2_C	brain:	n/a
27	chr12:104351251-104351301	GM12878	blood:	n/a
28	chr12:104351251-104351301	NB4	blood:	n/a
29	chr12:104351251-104351301	HIPEpiC	eye:	n/a
30	chr12:104351251-104351301	Jurkat	blood:	n/a
31	chr12:104351251-104351301	SKMC	muscle:	n/a
32	chr12:104351251-104351301	K562	blood:	n/a
33	chr12:104351251-104351301	RPTEC	kidney:	n/a
34	chr12:104351251-104351301	SK-N-SH_RA	brain:	n/a
35	chr12:104351251-104351301	NT2-D1	testis:	n/a
36	chr12:104351251-104351301	HPAEpiC	pulmonary alveolar:	n/a
37	chr12:104351251-104351301	AG04450	lung:	fetal
38	chr12:104351251-104351301	SK-N-MC	brain:	n/a
39	chr12:104351251-104351301	ovcar-3	ovarian:	n/a
40	chr12:104351251-104351301	HRCEpiC	kidney:	n/a
41	chr12:104351251-104351301	AG04449	skin:	fetal
42	chr12:104351251-104351301	PrEC	prostate:	n/a
43	chr12:104351251-104351301	Hela-S3	cervix:	n/a
44	chr12:104351251-104351301	HCM	heart:	n/a
45	chr12:104351251-104351301	MCF10A-Er-Src	breast:	n/a
46	chr12:104351251-104351301	HUVEC	blood vessel:	n/a
47	chr12:104351251-104351301	MCF-7	breast:	n/a
48	chr12:104351251-104351301	AG09309	skin:	n/a
49	chr12:104351251-104351301	SK-N-SH	brain:	n/a
50	chr12:104351251-104351301	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104350497..104351651-chr12:104359273..104360330,4	MCF-7	breast:
2	chr12:104233713..104237034-chr12:104348727..104352026,4	MCF-7	breast:
3	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:
4	chr12:104350542..104351376-chr12:104359276..104359983,4	HCT-116	colon:
5	chr12:104349867..104352216-chr12:105350654..105352678,2	MCF-7	breast:
6	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:
7	chr12:104350512..104351443-chr12:104359103..104360492,6	NB4	blood:
8	chr12:104350902..104351473-chr12:104359214..104360174,3	Hela-S3	cervix:
9	chr12:104234073..104236683-chr12:104349820..104352847,3	K562	blood:
10	chr12:104309475..104312400-chr12:104350529..104352590,2	MCF-7	breast:

Variant related genes	Relation type
C12orf73	TF binding region
C12orf73	CpG island
ENSG00000111696	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000136052	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000265072	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	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
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1799879	chr12:104351057-104360713	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104349200-104351600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:104349200-104351600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr12:104349200-104351600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:104349200-104351800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:104349400-104351600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:104349400-104351600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr12:104349400-104351600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr12:104349400-104351600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr12:104349400-104351600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr12:104349400-104352000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:104349600-104351600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr12:104349600-104351600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr12:104349600-104351800	Active TSS	A549	lung
14	chr12:104349600-104352200	Active TSS	K562	blood
15	chr12:104349800-104351400	Active TSS	Left Ventricle	heart
16	chr12:104349800-104351600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:104349800-104351600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:104349800-104351600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:104349800-104351600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:104349800-104351600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:104349800-104351600	Flanking Active TSS	Liver	Liver
22	chr12:104350000-104351400	Active TSS	Fetal Intestine Large	intestine
23	chr12:104350000-104351400	Active TSS	NHDF-Ad	bronchial
24	chr12:104350000-104351600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr12:104350000-104351600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:104350000-104351600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:104350000-104351600	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr12:104350000-104351600	Active TSS	Aorta	Aorta
29	chr12:104350000-104351600	Active TSS	Hela-S3	cervix
30	chr12:104350200-104351400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:104350200-104351400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:104350200-104351400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:104350200-104351400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:104350200-104351400	Active TSS	Fetal Brain Female	brain
35	chr12:104350200-104351400	Active TSS	Fetal Intestine Small	intestine
36	chr12:104350200-104351400	Active TSS	Lung	lung
37	chr12:104350200-104351400	Bivalent/Poised TSS	HepG2	liver
38	chr12:104350200-104351400	Active TSS	HSMMtube	muscle
39	chr12:104350200-104351600	Active TSS	Fetal Brain Male	brain
40	chr12:104350200-104351600	Active TSS	Fetal Kidney	kidney
41	chr12:104350200-104351600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr12:104350200-104351600	Active TSS	Fetal Lung	lung
43	chr12:104350200-104351600	Active TSS	Psoas Muscle	Psoas
44	chr12:104350200-104351600	Active TSS	Right Ventricle	heart
45	chr12:104350200-104351600	Active TSS	GM12878-XiMat	blood
46	chr12:104350200-104351600	Active TSS	HSMM	muscle
47	chr12:104350400-104351400	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr12:104350400-104351400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:104350400-104351400	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr12:104350400-104351400	Active TSS	Primary T helper cells PMA-I stimulated	--

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