Variant report

Variant	esv3449757
Chromosome Location	chr12:32067390-32076433
allele	n/a
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	CBX3	chr12:32075247-32075699	K562	blood:	n/a	n/a
2	CBX3	chr12:32075691-32076415	HCT-116	colon:	n/a	n/a
3	CBX3	chr12:32068338-32068857	K562	blood:	n/a	n/a
4	CBX3	chr12:32075340-32075536	K562	blood:	n/a	n/a
5	CBX3	chr12:32075714-32076342	K562	blood:	n/a	n/a
6	CBX3	chr12:32068426-32068695	K562	blood:	n/a	n/a
7	CBX3	chr12:32075884-32076289	HCT-116	colon:	n/a	n/a
8	CBX3	chr12:32075887-32076294	K562	blood:	n/a	n/a
9	CEBPB	chr12:32075602-32075693	K562	blood:	n/a	n/a
10	CTCF	chr12:32068920-32069070	AG09309	skin:	n/a	n/a
11	CTCF	chr12:32069031-32069115	A549	lung:	n/a	n/a
12	CTCF	chr12:32068920-32069070	WERI-Rb-1	eye:	n/a	n/a
13	E2F4	chr12:32070470-32070485	MCF10A-Er-Src	breast:	n/a	chr12:32070470-32070479
14	EP300	chr12:32075551-32076237	ECC-1	luminal epithelium:	n/a	n/a
15	FOS	chr12:32075630-32076003	HUVEC	blood vessel:	n/a	chr12:32075816-32075827
16	FOS	chr12:32075696-32075971	MCF10A-Er-Src	breast:	n/a	chr12:32075816-32075827
17	FOS	chr12:32075648-32075971	MCF10A-Er-Src	breast:	n/a	chr12:32075816-32075827
18	FOS	chr12:32075679-32075988	MCF10A-Er-Src	breast:	n/a	chr12:32075816-32075827
19	FOS	chr12:32075685-32075968	MCF10A-Er-Src	breast:	n/a	chr12:32075816-32075827
20	FOSL2	chr12:32075700-32076008	HepG2	liver:	n/a	n/a
21	JUN	chr12:32075847-32076136	K562	blood:	n/a	n/a
22	JUND	chr12:32075602-32075957	HepG2	liver:	n/a	chr12:32075816-32075827
23	JUND	chr12:32075779-32075934	K562	blood:	n/a	chr12:32075816-32075827
24	KAP1	chr12:32075027-32076407	K562	blood:	n/a	n/a
25	KAP1	chr12:32068262-32068960	K562	blood:	n/a	n/a
26	KAP1	chr12:32075783-32076329	HEK293	kidney:	n/a	n/a
27	MAFF	chr12:32072947-32073180	K562	blood:	n/a	n/a
28	MAFK	chr12:32072946-32073146	K562	blood:	n/a	n/a
29	MAZ	chr12:32075927-32076272	HepG2	liver:	n/a	n/a
30	MYC	chr12:32068276-32068359	MCF-7	breast:	n/a	n/a
31	NFIC	chr12:32075456-32076237	ECC-1	luminal epithelium:	n/a	n/a
32	NFIC	chr12:32075557-32076115	ECC-1	luminal epithelium:	n/a	n/a
33	PBX3	chr12:32067952-32068096	GM12878	blood:	n/a	chr12:32068060-32068069
34	RAD21	chr12:32068910-32069132	A549	lung:	n/a	n/a
35	SETDB1	chr12:32075460-32076311	K562	blood:	n/a	n/a
36	SETDB1	chr12:32075317-32076877	K562	blood:	n/a	n/a
37	SETDB1	chr12:32075212-32076403	U2OS	brain:	n/a	n/a
38	SETDB1	chr12:32067611-32068962	K562	blood:	n/a	n/a
39	SRF	chr12:32075649-32075974	K562	blood:	n/a	chr12:32075850-32075868
40	SRF	chr12:32075411-32076311	ECC-1	luminal epithelium:	n/a	chr12:32075850-32075868
41	SRF	chr12:32075747-32075940	K562	blood:	n/a	chr12:32075850-32075868
42	SRF	chr12:32075489-32076293	ECC-1	luminal epithelium:	n/a	chr12:32075850-32075868
43	SRF	chr12:32075744-32076003	HepG2	liver:	n/a	chr12:32075850-32075868
44	SRF	chr12:32075735-32076014	H1-hESC	embryonic stem cell:	n/a	chr12:32075850-32075868
45	SRF	chr12:32075542-32076291	HCT-116	colon:	n/a	chr12:32075850-32075868
46	SRF	chr12:32075588-32076048	H1-hESC	embryonic stem cell:	n/a	chr12:32075850-32075868
47	SRF	chr12:32075494-32076203	HCT-116	colon:	n/a	chr12:32075850-32075868
48	SRF	chr12:32075701-32075969	HepG2	liver:	n/a	chr12:32075850-32075868
49	STAT3	chr12:32075729-32076006	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr12:32075606-32075661	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-H3F3C-2	chr12:32068298-32068616	NONHSAT027580
2	lnc-H3F3C-6	chr12:32068728-32068779	NONHSAT027589
3	lnc-H3F3C-6	chr12:32069002-32069098	NONHSAT027589

Variant related genes	Relation type
ENSG00000252584	TF binding region

Extended variants
information (count: 388 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559810135	chr12:32067404-32067405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534853611	chr12:32067411-32067412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368021805	chr12:32067412-32067413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532641618	chr12:32067421-32067422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71062496	chr12:32067426-32067427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28860851	chr12:32067427-32067428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528767586	chr12:32067464-32067465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143676612	chr12:32067500-32067501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368141922	chr12:32067527-32067528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529857138	chr12:32067575-32067576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183526148	chr12:32067581-32067582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34278419	chr12:32067611-32067612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1270226	chr12:32067616-32067617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569688542	chr12:32067632-32067633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532218191	chr12:32067645-32067646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552317628	chr12:32067759-32067760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565663586	chr12:32067789-32067790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202001231	chr12:32067793-32067794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532780638	chr12:32067845-32067846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111643866	chr12:32067894-32067895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374590862	chr12:32067895-32067896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73079734	chr12:32067932-32067933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557182302	chr12:32067952-32067953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1259885	chr12:32067957-32067958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs1259886	chr12:32067964-32067965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs553511221	chr12:32068012-32068013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138389655	chr12:32068023-32068024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560941253	chr12:32068037-32068038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113648179	chr12:32068073-32068074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576896228	chr12:32068084-32068085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143927995	chr12:32068121-32068122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34023025	chr12:32068227-32068228	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs148886940	chr12:32068234-32068235	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs145433240	chr12:32068235-32068236	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs373182636	chr12:32068236-32068237	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs529719562	chr12:32068345-32068346	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs147188619	chr12:32068354-32068355	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs563257740	chr12:32068367-32068368	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs532210839	chr12:32068374-32068375	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
40	rs368039797	chr12:32068378-32068379	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
41	rs190920730	chr12:32068391-32068392	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
42	rs138789978	chr12:32068396-32068397	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
43	rs75648780	chr12:32068398-32068399	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
44	rs567974234	chr12:32068407-32068408	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs150785837	chr12:32068416-32068417	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs139205623	chr12:32068580-32068581	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs79722310	chr12:32068607-32068608	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs74071668	chr12:32068632-32068633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553643870	chr12:32068639-32068640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573472750	chr12:32068662-32068663	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32066000-32068800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:32066000-32074800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:32068200-32068400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr12:32070200-32071000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:32072000-32074400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:32074400-32077000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:32074800-32076400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:32074800-32077200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr12:32075000-32076800	ZNF genes & repeats	Dnd41	blood
10	chr12:32075200-32076800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:32075200-32076800	ZNF genes & repeats	Liver	Liver
12	chr12:32075400-32075600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
13	chr12:32075400-32076200	ZNF genes & repeats	Colonic Mucosa	Colon
14	chr12:32075400-32076400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr12:32075400-32076800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
16	chr12:32075600-32076000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr12:32075600-32076600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:32075600-32076600	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr12:32075600-32076800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
20	chr12:32076000-32076600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr12:32076000-32077000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

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