Variant report

Variant	rs2293619
Chromosome Location	chr12:104350974-104350975
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:635)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

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	E2F6	chr12:104350886-104351179	K562	blood:	n/a	n/a
13	MAFK	chr12:104350893-104351198	HepG2	liver:	n/a	n/a
14	MYC	chr12:104350137-104351486	H1-hESC	embryonic stem cell:	n/a	chr12:104351043-104351052
15	POLR2A	chr12:104350260-104351550	HUVEC	blood vessel:	n/a	n/a
16	BRCA1	chr12:104350613-104351113	HepG2	liver:	n/a	n/a
17	YY1	chr12:104350759-104351302	H1-hESC	embryonic stem cell:	n/a	chr12:104351031-104351045
18	POLR2A	chr12:104350391-104351315	Gliobla	brain:	n/a	n/a
19	SIX5	chr12:104350687-104351269	A549	lung:	n/a	n/a
20	KAP1	chr12:104350723-104351532	U2OS	brain:	n/a	n/a
21	MYC	chr12:104350909-104351096	MCF-7	breast:	n/a	chr12:104351043-104351052
22	POLR2A	chr12:104350439-104351592	GM12892	blood:	n/a	n/a
23	POLR2A	chr12:104350718-104351225	HepG2	liver:	n/a	n/a
24	SIN3AK20	chr12:104350839-104351136	PFSK-1	brain:	n/a	n/a
25	IRF1	chr12:104350719-104351559	K562	blood:	n/a	chr12:104350808-104350822 chr12:104350808-104350821 chr12:104350808-104350820 chr12:104350811-104350821
26	POLR2A	chr12:104350648-104351581	K562	blood:	n/a	n/a
27	POLR2A	chr12:104350716-104351488	SK-N-SH	brain:	n/a	n/a
28	CTCF	chr12:104350860-104351010	AG04450	lung:	n/a	n/a
29	POLR2A	chr12:104350550-104351570	K562	blood:	n/a	n/a
30	BCL3	chr12:104350067-104351659	A549	lung:	n/a	chr12:104350626-104350635 chr12:104351030-104351043
31	CUX1	chr12:104350839-104351549	K562	blood:	n/a	chr12:104351494-104351505
32	RCOR1	chr12:104350602-104351555	K562	blood:	n/a	n/a
33	FOS	chr12:104350863-104351339	MCF10A-Er-Src	breast:	n/a	chr12:104351146-104351157
34	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
35	GATA3	chr12:104350727-104351180	T-47D	breast:	n/a	n/a
36	SRF	chr12:104350637-104351528	MCF-7	breast:	n/a	n/a
37	POLR2A	chr12:104350611-104351611	SK-N-SH	brain:	n/a	n/a
38	FAM48A	chr12:104350908-104351101	GM12878	blood:	n/a	n/a
39	MAX	chr12:104350034-104351452	SK-N-SH	brain:	n/a	chr12:104351043-104351052
40	RAD21	chr12:104350646-104351167	H1-hESC	embryonic stem cell:	n/a	n/a
41	TAF1	chr12:104350415-104351125	HepG2	liver:	n/a	n/a
42	PML	chr12:104350468-104351537	K562	blood:	n/a	n/a
43	SP4	chr12:104350616-104351467	H1-hESC	embryonic stem cell:	n/a	n/a
44	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
45	TAF1	chr12:104350630-104351267	H1-neurons	neurons:	n/a	n/a
46	EP300	chr12:104350830-104351282	T-47D	breast:	n/a	n/a
47	POLR2A	chr12:104350363-104351459	HepG2	liver:	n/a	n/a
48	SRF	chr12:104350911-104351107	GM12878	blood:	n/a	n/a
49	ZNF143	chr12:104350636-104351441	H1-hESC	embryonic stem cell:	n/a	chr12:104351034-104351044
50	EP300	chr12:104350817-104351497	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:104350955-104351005	PrEC	prostate:	n/a
2	chr12:104350955-104351005	Hela-S3	cervix:	n/a
3	chr12:104350955-104351005	HEK293	kidney:	embryo
4	chr12:104350955-104351005	Jurkat	blood:	n/a
5	chr12:104350955-104351005	AG04450	lung:	fetal
6	chr12:104350955-104351005	T-47D	breast:	n/a
7	chr12:104350955-104351005	HNPCEpiC	eye:	n/a
8	chr12:104350955-104351005	AG04449	skin:	fetal
9	chr12:104350955-104351005	HCF	heart:	n/a
10	chr12:104350955-104351005	NHDF-neo	bronchial:	n/a
11	chr12:104350955-104351005	HMEC	breast:	n/a
12	chr12:104350955-104351005	HPAEpiC	pulmonary alveolar:	n/a
13	chr12:104350955-104351005	ProgFib	skin:	n/a
14	chr12:104350955-104351005	HL-60	blood:	n/a
15	chr12:104350955-104351005	SK-N-SH	brain:	n/a
16	chr12:104350955-104351005	U87	brain:	n/a
17	chr12:104350955-104351005	GM12891	blood:	n/a
18	chr12:104350955-104351005	BJ	skin:	n/a
19	chr12:104350955-104351005	IMR90	lung:	fetal
20	chr12:104350955-104351005	HEEpiC	esophagus:	n/a
21	chr12:104350955-104351005	RPTEC	kidney:	n/a
22	chr12:104350955-104351005	K562	blood:	n/a
23	chr12:104350955-104351005	ECC-1	luminal epithelium:	n/a
24	chr12:104350955-104351005	AG09309	skin:	n/a
25	chr12:104350955-104351005	NB4	blood:	n/a
26	chr12:104350955-104351005	HRPEpiC	eye:	n/a
27	chr12:104350955-104351005	Caco-2	colon:	n/a
28	chr12:104350955-104351005	HCM	heart:	n/a
29	chr12:104350955-104351005	GM12892	blood:	n/a
30	chr12:104350955-104351005	HCT-116	colon:	n/a
31	chr12:104350955-104351005	PFSK-1	brain:	n/a
32	chr12:104350955-104351005	AG10803	skin:	n/a
33	chr12:104350955-104351005	SK-N-SH_RA	brain:	n/a
34	chr12:104350955-104351005	MCF-7	breast:	n/a
35	chr12:104350955-104351005	AoSMC	blood vessel:	n/a
36	chr12:104350955-104351005	HCPEpiC	choroid plexus:	n/a
37	chr12:104350955-104351005	H1-hESC	embryonic stem cell:	embryo
38	chr12:104350955-104351005	GM06990	blood:	n/a
39	chr12:104350955-104351005	MCF10A-Er-Src	breast:	n/a
40	chr12:104350955-104351005	GM12878	blood:	n/a
41	chr12:104350955-104351005	HRE	kidney:	n/a
42	chr12:104350955-104351005	HAEpiC	amniotic membrane:	n/a
43	chr12:104350955-104351005	HIPEpiC	eye:	n/a
44	chr12:104350955-104351005	Hepatocyte	liver:	n/a
45	chr12:104350955-104351005	A549	lung:	n/a
46	chr12:104350955-104351005	PANC-1	pancreas:	n/a
47	chr12:104350955-104351005	NT2-D1	testis:	n/a
48	chr12:104350955-104351005	HepG2	liver:	n/a
49	chr12:104350955-104351005	SAEC	small airway:	n/a
50	chr12:104350955-104351005	HRCEpiC	kidney:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104348297..104351124-chr12:104530392..104533056,3	MCF-7	breast:
2	chr12:104350497..104351651-chr12:104359273..104360330,4	MCF-7	breast:
3	chr12:104233713..104237034-chr12:104348727..104352026,4	MCF-7	breast:
4	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:
5	chr1:173835773..173836619-chr12:104350561..104351185,2	Hela-S3	cervix:
6	chr12:104348328..104351209-chr12:104680724..104683661,2	K562	blood:
7	chr12:104350492..104351269-chr12:104359211..104359991,3	MCF-7	breast:
8	chr12:104350542..104351376-chr12:104359276..104359983,4	HCT-116	colon:
9	chr12:104349867..104352216-chr12:105350654..105352678,2	MCF-7	breast:
10	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:
11	chr12:104350512..104351443-chr12:104359103..104360492,6	NB4	blood:
12	chr12:104350902..104351473-chr12:104359214..104360174,3	Hela-S3	cervix:
13	chr12:104234073..104236683-chr12:104349820..104352847,3	K562	blood:
14	chr12:104350739..104351241-chr12:104359347..104360064,2	MCF-7	breast:
15	chr12:104309475..104312400-chr12:104350529..104352590,2	MCF-7	breast:

No data

Variant related genes	Relation type
C12orf73	TF binding region
C12orf73	CpG island
ENSG00000120837	Chromatin interaction
ENSG00000136052	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000265072	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12426382	0.85[ASN][1000 genomes]
rs12580474	1.00[AFR][1000 genomes]
rs12582917	1.00[AFR][1000 genomes]
rs17034946	0.85[ASN][1000 genomes]
rs17034960	0.85[ASN][1000 genomes]
rs17035056	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1882019	0.87[ASN][1000 genomes]
rs2722200	0.87[ASN][1000 genomes]
rs2888805	0.81[ASN][1000 genomes]
rs3751207	0.88[ASN][1000 genomes]
rs3751208	0.88[ASN][1000 genomes]
rs3829300	0.87[ASN][1000 genomes]
rs4135060	0.87[ASN][1000 genomes]
rs4135076	0.88[ASN][1000 genomes]
rs4135078	0.88[ASN][1000 genomes]
rs4135082	0.88[ASN][1000 genomes]
rs4135085	0.87[ASN][1000 genomes]
rs4135086	0.87[ASN][1000 genomes]
rs4135087	0.87[ASN][1000 genomes]
rs4135095	0.87[ASN][1000 genomes]
rs4135118	0.83[ASN][1000 genomes]
rs4135131	0.83[ASN][1000 genomes]
rs59879726	1.00[AFR][1000 genomes]
rs60534873	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

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	chr12:104350000-104351000	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr12:104350000-104351200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:104350000-104351400	Active TSS	Fetal Intestine Large	intestine
27	chr12:104350000-104351400	Active TSS	NHDF-Ad	bronchial
28	chr12:104350000-104351600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr12:104350000-104351600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:104350000-104351600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:104350000-104351600	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr12:104350000-104351600	Active TSS	Aorta	Aorta
33	chr12:104350000-104351600	Active TSS	Hela-S3	cervix
34	chr12:104350200-104351000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:104350200-104351000	Active TSS	NH-A	brain
36	chr12:104350200-104351200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:104350200-104351200	Active TSS	Muscle Satellite Cultured Cells	--
38	chr12:104350200-104351200	Active TSS	Fetal Heart	heart
39	chr12:104350200-104351200	Active TSS	Fetal Stomach	stomach
40	chr12:104350200-104351200	Active TSS	Small Intestine	intestine
41	chr12:104350200-104351200	Active TSS	NHEK	skin
42	chr12:104350200-104351200	Active TSS	Osteobl	bone
43	chr12:104350200-104351400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:104350200-104351400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:104350200-104351400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:104350200-104351400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:104350200-104351400	Active TSS	Fetal Brain Female	brain
48	chr12:104350200-104351400	Active TSS	Fetal Intestine Small	intestine
49	chr12:104350200-104351400	Active TSS	Lung	lung
50	chr12:104350200-104351400	Bivalent/Poised TSS	HepG2	liver

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