Variant report

Variant	rs73417348
Chromosome Location	chr12:123735571-123735572
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr12:123735318-123735877	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:123735299-123736113	MCF-7	breast:	n/a	n/a
3	MAX	chr12:123735371-123735752	Hela-S3	cervix:	n/a	n/a
4	YY1	chr12:123735422-123735805	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr12:123734851-123735721	PANC-1	pancreas:	n/a	n/a
6	MAFF	chr12:123735386-123735790	K562	blood:	n/a	chr12:123735625-123735643
7	POLR2A	chr12:123735369-123735679	K562	blood:	n/a	n/a
8	MAFK	chr12:123735434-123735702	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:123735555-123735578	K562	blood:	n/a	n/a
10	FOS	chr12:123735420-123735791	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr12:123734922-123736808	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:123735116-123736320	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr12:123735320-123735836	ECC-1	luminal epithelium:	n/a	n/a
14	NFIC	chr12:123734994-123735652	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr12:123735433-123735688	Hela-S3	cervix:	n/a	n/a
16	SP1	chr12:123735161-123735964	A549	lung:	n/a	n/a
17	EP300	chr12:123735344-123735985	A549	lung:	n/a	n/a
18	POLR2A	chr12:123735154-123735858	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr12:123735431-123735637	A549	lung:	n/a	n/a
20	MAX	chr12:123735256-123736035	MCF-7	breast:	n/a	n/a
21	TCF12	chr12:123734894-123736454	A549	lung:	n/a	n/a
22	MAX	chr12:123735305-123735656	K562	blood:	n/a	n/a
23	REST	chr12:123735438-123735629	K562	blood:	n/a	n/a
24	MYC	chr12:123735407-123735656	MCF10A-Er-Src	breast:	n/a	n/a
25	JUND	chr12:123735132-123735832	A549	lung:	n/a	n/a
26	STAT3	chr12:123735199-123735621	MCF10A-Er-Src	breast:	n/a	chr12:123735379-123735390
27	RFX5	chr12:123735390-123735941	Hela-S3	cervix:	n/a	n/a
28	FOSL2	chr12:123735475-123735788	A549	lung:	n/a	n/a
29	MYC	chr12:123735491-123735650	MCF-7	breast:	n/a	n/a
30	YY1	chr12:123735412-123735785	HepG2	liver:	n/a	n/a
31	MAFK	chr12:123735439-123735911	Hela-S3	cervix:	n/a	n/a
32	TEAD4	chr12:123735316-123735712	K562	blood:	n/a	n/a
33	MAZ	chr12:123735494-123735802	Hela-S3	cervix:	n/a	n/a
34	RCOR1	chr12:123735298-123735694	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr12:123735487-123735819	MCF-7	breast:	n/a	n/a
36	POLR2A	chr12:123735421-123735727	HepG2	liver:	n/a	n/a
37	REST	chr12:123735469-123735635	K562	blood:	n/a	n/a
38	POLR2A	chr12:123735398-123735613	ProgFib	skin:	n/a	n/a
39	FOSL2	chr12:123735161-123736019	A549	lung:	n/a	n/a
40	POLR2A	chr12:123735253-123735846	Hela-S3	cervix:	n/a	n/a
41	JUND	chr12:123735419-123735770	K562	blood:	n/a	n/a
42	STAT3	chr12:123735202-123735685	MCF10A-Er-Src	breast:	n/a	chr12:123735379-123735390
43	SETDB1	chr12:123734957-123735675	U2OS	brain:	n/a	n/a
44	CEBPB	chr12:123735383-123735888	Hela-S3	cervix:	n/a	n/a
45	YY1	chr12:123735380-123735832	K562	blood:	n/a	n/a
46	FOS	chr12:123735428-123735773	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr12:123735433-123735805	MCF10A-Er-Src	breast:	n/a	n/a
48	FOSL2	chr12:123735172-123736018	HepG2	liver:	n/a	n/a
49	YY1	chr12:123735372-123735679	HCT-116	colon:	n/a	n/a
50	TBP	chr12:123735395-123735597	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123464634..123466197-chr12:123735539..123737109,2	MCF-7	breast:
2	chr12:123451045..123452887-chr12:123735091..123736633,2	MCF-7	breast:
3	chr12:123715622..123719446-chr12:123735072..123738647,4	K562	blood:
4	chr12:123714199..123721299-chr12:123733822..123739052,7	MCF-7	breast:
5	chr12:123733810..123737382-chr12:123754694..123758405,4	MCF-7	breast:
6	chr12:123715816..123718191-chr12:123733182..123735641,3	K562	blood:
7	chr12:123728345..123730190-chr12:123734058..123735826,2	MCF-7	breast:
8	chr12:123735336..123737474-chr12:123737604..123739915,2	MCF-7	breast:
9	chr12:123733838..123737944-chr12:123742344..123746385,6	MCF-7	breast:

No data

Variant related genes	Relation type
C12orf65	TF binding region
ENSG00000150967	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000235423	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56910713	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59708426	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7299155	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417317	0.86[AFR][1000 genomes]
rs73417324	0.89[AFR][1000 genomes]
rs73417342	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417343	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123718800-123739600	Weak transcription	Fetal Kidney	kidney
2	chr12:123719600-123738400	Weak transcription	NH-A	brain
3	chr12:123720000-123736000	Weak transcription	Gastric	stomach
4	chr12:123720000-123738000	Weak transcription	Small Intestine	intestine
5	chr12:123725200-123738000	Weak transcription	HSMM	muscle
6	chr12:123725800-123746400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:123727400-123736000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:123727400-123738000	Weak transcription	NHDF-Ad	bronchial
9	chr12:123727400-123738200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:123727600-123736400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:123727600-123738000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:123727600-123738000	Weak transcription	HUVEC	blood vessel
13	chr12:123727600-123739200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:123727800-123738200	Weak transcription	Fetal Heart	heart
15	chr12:123731800-123735600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr12:123732000-123738200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:123732800-123737000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:123733200-123735800	Strong transcription	Primary T cells from cord blood	blood
19	chr12:123733200-123736800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr12:123733400-123736400	Weak transcription	Fetal Lung	lung
21	chr12:123733400-123736400	Weak transcription	NHLF	lung
22	chr12:123733400-123738000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:123733400-123738000	Weak transcription	Primary B cells from cord blood	blood
24	chr12:123733400-123745000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:123733600-123736800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:123733800-123735600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:123733800-123738000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:123734000-123736400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr12:123734000-123737800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr12:123734000-123738400	Weak transcription	Osteobl	bone
31	chr12:123734200-123735800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr12:123734200-123736400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr12:123734200-123737800	Weak transcription	GM12878-XiMat	blood
34	chr12:123734200-123738400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:123734400-123735800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:123734400-123736000	Weak transcription	Dnd41	blood
37	chr12:123734400-123738400	Weak transcription	Aorta	Aorta
38	chr12:123734400-123738600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:123734600-123753200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:123734800-123737000	Enhancers	Esophagus	oesophagus
41	chr12:123735000-123735600	Enhancers	Colonic Mucosa	Colon
42	chr12:123735000-123735600	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr12:123735000-123735600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr12:123735000-123735800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:123735000-123735800	Enhancers	Left Ventricle	heart
46	chr12:123735000-123736000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr12:123735000-123736000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr12:123735000-123736000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:123735000-123736200	Enhancers	Liver	Liver
50	chr12:123735000-123736200	Genic enhancers	Fetal Thymus	thymus

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