Variant report

Variant	rs537246904
Chromosome Location	chr12:104351469-104351470
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	SIN3A	chr12:104350273-104351494	H1-hESC	embryonic stem cell:	n/a	chr12:104350999-104351012
2	MAX	chr12:104349962-104351635	HepG2	liver:	n/a	chr12:104351043-104351052
3	TAF1	chr12:104350278-104351506	A549	lung:	n/a	n/a
4	TCF12	chr12:104350667-104351570	A549	lung:	n/a	n/a
5	ARID3A	chr12:104350906-104351590	K562	blood:	n/a	n/a
6	FOXM1	chr12:104350444-104351562	GM12878	blood:	n/a	n/a
7	MYC	chr12:104350137-104351486	H1-hESC	embryonic stem cell:	n/a	chr12:104351043-104351052
8	PRDM1	chr12:104351113-104351494	Hela-S3	cervix:	n/a	chr12:104351149-104351158
9	POLR2A	chr12:104350260-104351550	HUVEC	blood vessel:	n/a	n/a
10	KAP1	chr12:104350723-104351532	U2OS	brain:	n/a	n/a
11	POLR2A	chr12:104350439-104351592	GM12892	blood:	n/a	n/a
12	IRF1	chr12:104350719-104351559	K562	blood:	n/a	chr12:104350808-104350822 chr12:104350808-104350821 chr12:104350808-104350820 chr12:104350811-104350821
13	POLR2A	chr12:104350648-104351581	K562	blood:	n/a	n/a
14	POLR2A	chr12:104350716-104351488	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr12:104350550-104351570	K562	blood:	n/a	n/a
16	BCL3	chr12:104350067-104351659	A549	lung:	n/a	chr12:104350626-104350635 chr12:104351030-104351043
17	CUX1	chr12:104350839-104351549	K562	blood:	n/a	chr12:104351494-104351505
18	RCOR1	chr12:104350602-104351555	K562	blood:	n/a	n/a
19	SRF	chr12:104350637-104351528	MCF-7	breast:	n/a	n/a
20	POLR2A	chr12:104350611-104351611	SK-N-SH	brain:	n/a	n/a
21	REST	chr12:104351238-104351564	K562	blood:	n/a	n/a
22	PML	chr12:104350468-104351537	K562	blood:	n/a	n/a
23	EP300	chr12:104350817-104351497	GM12878	blood:	n/a	n/a
24	MAX	chr12:104350392-104351486	K562	blood:	n/a	chr12:104351043-104351052
25	EGR1	chr12:104351312-104351645	K562	blood:	n/a	n/a
26	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
27	GABPA	chr12:104350588-104351548	A549	lung:	n/a	chr12:104350830-104350839 chr12:104350803-104350810
28	TBP	chr12:104350737-104351558	Hela-S3	cervix:	n/a	n/a
29	TAF1	chr12:104350366-104351508	H1-neurons	neurons:	n/a	n/a
30	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
31	RFX5	chr12:104350501-104351538	Hela-S3	cervix:	n/a	n/a
32	ELK1	chr12:104350816-104351473	GM12878	blood:	n/a	n/a
33	MYC	chr12:104349909-104351590	K562	blood:	n/a	chr12:104351043-104351052
34	GABPA	chr12:104350226-104351516	SK-N-SH	brain:	n/a	chr12:104350830-104350839 chr12:104350803-104350810
35	SIX5	chr12:104350356-104351722	A549	lung:	n/a	chr12:104351378-104351394 chr12:104351378-104351394 chr12:104351378-104351394
36	BHLHE40	chr12:104350467-104351538	K562	blood:	n/a	chr12:104351043-104351052 chr12:104351037-104351058 chr12:104351042-104351051 chr12:104351044-104351053 chr12:104351041-104351054 chr12:104351043-104351052
37	SIN3A	chr12:104350515-104351514	GM12878	blood:	n/a	chr12:104350999-104351012
38	ZKSCAN1	chr12:104350670-104351476	Hela-S3	cervix:	n/a	n/a
39	TAF1	chr12:104350652-104351480	GM12878	blood:	n/a	n/a
40	MAX	chr12:104350109-104351559	Hela-S3	cervix:	n/a	chr12:104351043-104351052
41	CHD2	chr12:104350775-104351518	GM12878	blood:	n/a	n/a
42	CEBPD	chr12:104350762-104351469	K562	blood:	n/a	n/a
43	TBP	chr12:104350416-104351613	H1-hESC	embryonic stem cell:	n/a	n/a
44	EP300	chr12:104350651-104351660	A549	lung:	n/a	n/a
45	CEBPB	chr12:104350699-104351616	GM12878	blood:	n/a	n/a
46	CREB1	chr12:104350560-104351675	GM12878	blood:	n/a	n/a
47	GABPA	chr12:104350744-104351562	K562	blood:	n/a	chr12:104350830-104350839 chr12:104350803-104350810
48	POLR2A	chr12:104350505-104351568	K562	blood:	n/a	n/a
49	MAX	chr12:104350336-104351549	MCF-7	breast:	n/a	chr12:104351043-104351052
50	RAD21	chr12:104350819-104351543	Hela-S3	cervix:	n/a	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	chr12:104349867..104352216-chr12:105350654..105352678,2	MCF-7	breast:
5	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:
6	chr12:104350902..104351473-chr12:104359214..104360174,3	Hela-S3	cervix:
7	chr12:104234073..104236683-chr12:104349820..104352847,3	K562	blood:
8	chr12:104309475..104312400-chr12:104350529..104352590,2	MCF-7	breast:

Variant related genes	Relation type
C12orf73	TF binding region
ENSG00000111696	Chromatin interaction
ENSG00000136052	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000166598	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:124 , 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	chr12:104349800-104351600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:104349800-104351600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:104349800-104351600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:104349800-104351600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:104349800-104351600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:104349800-104351600	Flanking Active TSS	Liver	Liver
21	chr12:104350000-104351600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr12:104350000-104351600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:104350000-104351600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:104350000-104351600	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr12:104350000-104351600	Active TSS	Aorta	Aorta
26	chr12:104350000-104351600	Active TSS	Hela-S3	cervix
27	chr12:104350200-104351600	Active TSS	Fetal Brain Male	brain
28	chr12:104350200-104351600	Active TSS	Fetal Kidney	kidney
29	chr12:104350200-104351600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr12:104350200-104351600	Active TSS	Fetal Lung	lung
31	chr12:104350200-104351600	Active TSS	Psoas Muscle	Psoas
32	chr12:104350200-104351600	Active TSS	Right Ventricle	heart
33	chr12:104350200-104351600	Active TSS	GM12878-XiMat	blood
34	chr12:104350200-104351600	Active TSS	HSMM	muscle
35	chr12:104350400-104351600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:104350400-104351600	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr12:104350400-104351600	Active TSS	Primary T cells from cord blood	blood
38	chr12:104350400-104351600	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr12:104350400-104351600	Active TSS	Brain Angular Gyrus	brain
40	chr12:104350400-104351600	Active TSS	Brain Anterior Caudate	brain
41	chr12:104350400-104351600	Active TSS	Brain Germinal Matrix	brain
42	chr12:104350400-104351600	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr12:104350400-104351600	Active TSS	Brain Substantia Nigra	brain
44	chr12:104350400-104351600	Active TSS	Colonic Mucosa	Colon
45	chr12:104350400-104351600	Active TSS	Colon Smooth Muscle	Colon
46	chr12:104350400-104351600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr12:104350400-104351600	Active TSS	Esophagus	oesophagus
48	chr12:104350400-104351600	Active TSS	Pancreas	Pancrea
49	chr12:104350400-104351600	Active TSS	Right Atrium	heart
50	chr12:104350400-104351600	Active TSS	Sigmoid Colon	Sigmoid Colon

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