Variant report

Variant	rs112531953
Chromosome Location	chr12:104351161-104351162
allele	A/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	SIX5	chr12:104350734-104351225	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr12:104350805-104351420	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOS	chr12:104350898-104351465	MCF10A-Er-Src	breast:	n/a	chr12:104351146-104351157
5	MAX	chr12:104349962-104351635	HepG2	liver:	n/a	chr12:104351043-104351052
6	TAF1	chr12:104350278-104351506	A549	lung:	n/a	n/a
7	TCF12	chr12:104350667-104351570	A549	lung:	n/a	n/a
8	BHLHE40	chr12:104350847-104351178	HepG2	liver:	n/a	chr12:104351043-104351052 chr12:104351037-104351058 chr12:104351042-104351051 chr12:104351044-104351053 chr12:104351041-104351054 chr12:104351043-104351052
9	ARID3A	chr12:104350906-104351590	K562	blood:	n/a	n/a
10	FOXM1	chr12:104350444-104351562	GM12878	blood:	n/a	n/a
11	SIN3AK20	chr12:104350673-104351235	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3AK20	chr12:104351114-104351302	SK-N-SH	brain:	n/a	n/a
13	E2F6	chr12:104350886-104351179	K562	blood:	n/a	n/a
14	MAFK	chr12:104350893-104351198	HepG2	liver:	n/a	n/a
15	MYC	chr12:104350137-104351486	H1-hESC	embryonic stem cell:	n/a	chr12:104351043-104351052
16	PRDM1	chr12:104351113-104351494	Hela-S3	cervix:	n/a	chr12:104351149-104351158
17	POLR2A	chr12:104350260-104351550	HUVEC	blood vessel:	n/a	n/a
18	YY1	chr12:104350759-104351302	H1-hESC	embryonic stem cell:	n/a	chr12:104351031-104351045
19	POLR2A	chr12:104350391-104351315	Gliobla	brain:	n/a	n/a
20	SIX5	chr12:104350687-104351269	A549	lung:	n/a	n/a
21	KAP1	chr12:104350723-104351532	U2OS	brain:	n/a	n/a
22	POLR2A	chr12:104350439-104351592	GM12892	blood:	n/a	n/a
23	POLR2A	chr12:104350718-104351225	HepG2	liver:	n/a	n/a
24	IRF1	chr12:104350719-104351559	K562	blood:	n/a	chr12:104350808-104350822 chr12:104350808-104350821 chr12:104350808-104350820 chr12:104350811-104350821
25	POLR2A	chr12:104350648-104351581	K562	blood:	n/a	n/a
26	POLR2A	chr12:104350716-104351488	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr12:104350550-104351570	K562	blood:	n/a	n/a
28	BCL3	chr12:104350067-104351659	A549	lung:	n/a	chr12:104350626-104350635 chr12:104351030-104351043
29	CUX1	chr12:104350839-104351549	K562	blood:	n/a	chr12:104351494-104351505
30	RCOR1	chr12:104350602-104351555	K562	blood:	n/a	n/a
31	FOS	chr12:104350863-104351339	MCF10A-Er-Src	breast:	n/a	chr12:104351146-104351157
32	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
33	GATA3	chr12:104350727-104351180	T-47D	breast:	n/a	n/a
34	SRF	chr12:104350637-104351528	MCF-7	breast:	n/a	n/a
35	POLR2A	chr12:104350611-104351611	SK-N-SH	brain:	n/a	n/a
36	MAX	chr12:104350034-104351452	SK-N-SH	brain:	n/a	chr12:104351043-104351052
37	RAD21	chr12:104350646-104351167	H1-hESC	embryonic stem cell:	n/a	n/a
38	PML	chr12:104350468-104351537	K562	blood:	n/a	n/a
39	SP4	chr12:104350616-104351467	H1-hESC	embryonic stem cell:	n/a	n/a
40	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
41	TAF1	chr12:104350630-104351267	H1-neurons	neurons:	n/a	n/a
42	EP300	chr12:104350830-104351282	T-47D	breast:	n/a	n/a
43	POLR2A	chr12:104350363-104351459	HepG2	liver:	n/a	n/a
44	ZNF143	chr12:104350636-104351441	H1-hESC	embryonic stem cell:	n/a	chr12:104351034-104351044
45	EP300	chr12:104350817-104351497	GM12878	blood:	n/a	n/a
46	REST	chr12:104350853-104351171	Hela-S3	cervix:	n/a	n/a
47	MAX	chr12:104350392-104351486	K562	blood:	n/a	chr12:104351043-104351052
48	ETS1	chr12:104350757-104351212	A549	lung:	n/a	n/a
49	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
50	GABPA	chr12:104350588-104351548	A549	lung:	n/a	chr12:104350830-104350839 chr12:104350803-104350810

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	chr1:173835773..173836619-chr12:104350561..104351185,2	Hela-S3	cervix:
5	chr12:104348328..104351209-chr12:104680724..104683661,2	K562	blood:
6	chr12:104350492..104351269-chr12:104359211..104359991,3	MCF-7	breast:
7	chr12:104350542..104351376-chr12:104359276..104359983,4	HCT-116	colon:
8	chr12:104349867..104352216-chr12:105350654..105352678,2	MCF-7	breast:
9	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:
10	chr12:104350512..104351443-chr12:104359103..104360492,6	NB4	blood:
11	chr12:104350902..104351473-chr12:104359214..104360174,3	Hela-S3	cervix:
12	chr12:104234073..104236683-chr12:104349820..104352847,3	K562	blood:
13	chr12:104350739..104351241-chr12:104359347..104360064,2	MCF-7	breast:
14	chr12:104309475..104312400-chr12:104350529..104352590,2	MCF-7	breast:

Variant related genes	Relation type
C12orf73	TF binding region
ENSG00000136052	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000198431	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	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104349200-104351200	Active TSS	NHLF	lung
2	chr12:104349200-104351600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:104349200-104351600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr12:104349200-104351600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:104349200-104351800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:104349400-104351600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:104349400-104351600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:104349400-104351600	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr12:104349400-104351600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr12:104349400-104351600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr12:104349400-104352000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:104349600-104351200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:104349600-104351600	Active TSS	H9 Cell Line	embryonic stem cell
14	chr12:104349600-104351600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:104349600-104351800	Active TSS	A549	lung
16	chr12:104349600-104352200	Active TSS	K562	blood
17	chr12:104349800-104351400	Active TSS	Left Ventricle	heart
18	chr12:104349800-104351600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:104349800-104351600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:104349800-104351600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:104349800-104351600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:104349800-104351600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:104349800-104351600	Flanking Active TSS	Liver	Liver
24	chr12:104350000-104351200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:104350000-104351400	Active TSS	Fetal Intestine Large	intestine
26	chr12:104350000-104351400	Active TSS	NHDF-Ad	bronchial
27	chr12:104350000-104351600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr12:104350000-104351600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:104350000-104351600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:104350000-104351600	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr12:104350000-104351600	Active TSS	Aorta	Aorta
32	chr12:104350000-104351600	Active TSS	Hela-S3	cervix
33	chr12:104350200-104351200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:104350200-104351200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr12:104350200-104351200	Active TSS	Fetal Heart	heart
36	chr12:104350200-104351200	Active TSS	Fetal Stomach	stomach
37	chr12:104350200-104351200	Active TSS	Small Intestine	intestine
38	chr12:104350200-104351200	Active TSS	NHEK	skin
39	chr12:104350200-104351200	Active TSS	Osteobl	bone
40	chr12:104350200-104351400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:104350200-104351400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:104350200-104351400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:104350200-104351400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:104350200-104351400	Active TSS	Fetal Brain Female	brain
45	chr12:104350200-104351400	Active TSS	Fetal Intestine Small	intestine
46	chr12:104350200-104351400	Active TSS	Lung	lung
47	chr12:104350200-104351400	Bivalent/Poised TSS	HepG2	liver
48	chr12:104350200-104351400	Active TSS	HSMMtube	muscle
49	chr12:104350200-104351600	Active TSS	Fetal Brain Male	brain
50	chr12:104350200-104351600	Active TSS	Fetal Kidney	kidney

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