Variant report

Variant	nsv469496
Chromosome Location	chr12:84014359-84074475
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	CEBPB	chr12:84017556-84017654	K562	blood:	n/a	chr12:84017588-84017601 chr12:84017589-84017600 chr12:84017566-84017577 chr12:84017565-84017578 chr12:84017588-84017599 chr12:84017588-84017601
2	CEBPB	chr12:84017426-84017763	HepG2	liver:	n/a	chr12:84017588-84017601 chr12:84017589-84017600 chr12:84017566-84017577 chr12:84017565-84017578 chr12:84017588-84017599 chr12:84017588-84017601
3	CEBPB	chr12:84043811-84044018	HepG2	liver:	n/a	chr12:84043854-84043865
4	CEBPB	chr12:84017422-84017746	A549	lung:	n/a	chr12:84017588-84017601 chr12:84017589-84017600 chr12:84017566-84017577 chr12:84017565-84017578 chr12:84017588-84017599 chr12:84017588-84017601
5	CEBPB	chr12:84043724-84044065	Hela-S3	cervix:	n/a	chr12:84043854-84043865
6	CEBPB	chr12:84017417-84017697	Hela-S3	cervix:	n/a	chr12:84017588-84017601 chr12:84017589-84017600 chr12:84017566-84017577 chr12:84017565-84017578 chr12:84017588-84017599 chr12:84017588-84017601
7	CEBPB	chr12:84017492-84017750	IMR90	lung:	n/a	chr12:84017588-84017601 chr12:84017589-84017600 chr12:84017566-84017577 chr12:84017565-84017578 chr12:84017588-84017599 chr12:84017588-84017601
8	CEBPB	chr12:84019131-84019355	HepG2	liver:	n/a	chr12:84019292-84019303 chr12:84019293-84019304 chr12:84019292-84019305
9	CHD1	chr12:84063108-84063142	GM12878	blood:	n/a	n/a
10	CTCF	chr12:84070246-84070308	GM10248	blood:	n/a	n/a
11	CTCF	chr12:84018577-84018599	GM20000	blood:	n/a	n/a
12	CTCF	chr12:84036173-84036209	MCF-7	breast:	n/a	n/a
13	CTCF	chr12:84048380-84048530	BE2_C	brain:	n/a	n/a
14	E2F4	chr12:84028456-84028621	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr12:84026596-84026758	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F4	chr12:84062237-84062496	MCF10A-Er-Src	breast:	n/a	n/a
17	EP300	chr12:84028281-84029402	SK-N-SH	brain:	n/a	n/a
18	EP300	chr12:84054323-84054769	SK-N-SH_RA	brain:	n/a	chr12:84054609-84054618
19	EP300	chr12:84058408-84058759	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr12:84058134-84059085	SK-N-SH	brain:	n/a	chr12:84058771-84058785
21	EP300	chr12:84054427-84055074	SK-N-SH_RA	brain:	n/a	chr12:84054609-84054618
22	EP300	chr12:84059482-84060023	SK-N-SH_RA	brain:	n/a	chr12:84059787-84059800
23	EP300	chr12:84043783-84043983	Hela-S3	cervix:	n/a	n/a
24	EP300	chr12:84059210-84060826	SK-N-SH	brain:	n/a	chr12:84059787-84059800 chr12:84059316-84059323
25	EP300	chr12:84028189-84029327	SK-N-SH	brain:	n/a	n/a
26	EP300	chr12:84054778-84055036	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr12:84028953-84029203	SK-N-SH_RA	brain:	n/a	n/a
28	EP300	chr12:84054076-84055431	SK-N-SH	brain:	n/a	chr12:84054285-84054299 chr12:84054609-84054618
29	EP300	chr12:84059508-84060002	SK-N-SH_RA	brain:	n/a	chr12:84059787-84059800
30	EP300	chr12:84058422-84058861	SK-N-SH_RA	brain:	n/a	chr12:84058771-84058785
31	EP300	chr12:84028433-84028857	SK-N-SH_RA	brain:	n/a	n/a
32	EP300	chr12:84030404-84030756	SK-N-SH_RA	brain:	n/a	n/a
33	FAM48A	chr12:84019332-84019499	GM12878	blood:	n/a	n/a
34	FOS	chr12:84028541-84028673	MCF10A-Er-Src	breast:	n/a	chr12:84028640-84028649 chr12:84028634-84028646 chr12:84028641-84028650
35	FOS	chr12:84017249-84017312	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr12:84016071-84016134	MCF10A-Er-Src	breast:	n/a	n/a
37	FOSL2	chr12:84028274-84029282	SK-N-SH	brain:	n/a	chr12:84028640-84028649 chr12:84028634-84028646 chr12:84028641-84028650
38	FOSL2	chr12:84070197-84070355	HepG2	liver:	n/a	n/a
39	FOXA2	chr12:84070169-84070406	A549	lung:	n/a	n/a
40	FOXA2	chr12:84068047-84068750	A549	lung:	n/a	n/a
41	FOXA2	chr12:84068226-84068700	A549	lung:	n/a	n/a
42	FOXM1	chr12:84028439-84029201	SK-N-SH	brain:	n/a	n/a
43	GATA2	chr12:84058414-84058734	SH-SY5Y	brain:	n/a	n/a
44	GATA2	chr12:84054486-84055123	SH-SY5Y	brain:	n/a	chr12:84054656-84054663
45	GATA3	chr12:84057248-84057324	SH-SY5Y	brain:	n/a	n/a
46	GATA3	chr12:84054347-84055029	SK-N-SH	brain:	n/a	chr12:84054656-84054663
47	GATA3	chr12:84063155-84063546	SH-SY5Y	brain:	n/a	chr12:84063433-84063454 chr12:84063437-84063447 chr12:84063440-84063449 chr12:84063440-84063447
48	GATA3	chr12:84028006-84029506	SK-N-SH	brain:	n/a	chr12:84028639-84028648 chr12:84028652-84028659
49	GATA3	chr12:84061188-84061710	SH-SY5Y	brain:	n/a	chr12:84061682-84061692 chr12:84061684-84061691 chr12:84061673-84061690 chr12:84061217-84061227 chr12:84061684-84061691 chr12:84061679-84061695 chr12:84061684-84061691 chr12:84061682-84061691 chr12:84061677-84061698
50	GATA3	chr12:84055906-84056075	SH-SY5Y	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:84068532-84068582	T-47D	breast:	n/a
2	chr12:84068532-84068582	MCF-7	breast:	n/a
3	chr12:84068532-84068582	Hela-S3	cervix:	n/a
4	chr12:84068532-84068582	PFSK-1	brain:	n/a
5	chr12:84068532-84068582	H1-hESC	embryonic stem cell:	embryo
6	chr12:84068532-84068582	Jurkat	blood:	n/a
7	chr12:84068532-84068582	GM12891	blood:	n/a
8	chr12:84068532-84068582	PrEC	prostate:	n/a
9	chr12:84068532-84068582	AG04449	skin:	fetal
10	chr12:84068532-84068582	SK-N-SH_RA	brain:	n/a
11	chr12:84068532-84068582	HIPEpiC	eye:	n/a
12	chr12:84068532-84068582	Caco-2	colon:	n/a
13	chr12:84068532-84068582	HPAEpiC	pulmonary alveolar:	n/a
14	chr12:84068532-84068582	NT2-D1	testis:	n/a
15	chr12:84068532-84068582	HCT-116	colon:	n/a
16	chr12:84068532-84068582	HepG2	liver:	n/a
17	chr12:84068532-84068582	SKMC	muscle:	n/a
18	chr12:84068532-84068582	BE2_C	brain:	n/a
19	chr12:84068532-84068582	AG04450	lung:	fetal
20	chr12:84068532-84068582	RPTEC	kidney:	n/a
21	chr12:84068532-84068582	SK-N-MC	brain:	n/a
22	chr12:84068532-84068582	NH-A	brain:	n/a
23	chr12:84068532-84068582	CMK	blood:	n/a
24	chr12:84068532-84068582	ECC-1	luminal epithelium:	n/a
25	chr12:84068532-84068582	NHDF-neo	bronchial:	n/a
26	chr12:84068532-84068582	BJ	skin:	n/a
27	chr12:84068532-84068582	HEK293	kidney:	embryo
28	chr12:84068532-84068582	IMR90	lung:	fetal
29	chr12:84068532-84068582	K562	blood:	n/a
30	chr12:84068532-84068582	HMEC	breast:	n/a
31	chr12:84068532-84068582	HCPEpiC	choroid plexus:	n/a
32	chr12:84068532-84068582	SK-N-SH	brain:	n/a
33	chr12:84068532-84068582	GM12878	blood:	n/a
34	chr12:84068532-84068582	HL-60	blood:	n/a
35	chr12:84068532-84068582	AoSMC	blood vessel:	n/a
36	chr12:84068532-84068582	NB4	blood:	n/a
37	chr12:84068532-84068582	A549	lung:	n/a
38	chr12:84068532-84068582	GM19239	blood:	n/a
39	chr12:84068532-84068582	SAEC	small airway:	n/a
40	chr12:84068532-84068582	U87	brain:	n/a
41	chr12:84068532-84068582	ProgFib	skin:	n/a
42	chr12:84068532-84068582	GM12892	blood:	n/a
43	chr12:84068532-84068582	HAEpiC	amniotic membrane:	n/a
44	chr12:84068532-84068582	HCF	heart:	n/a
45	chr12:84068532-84068582	GM06990	blood:	n/a
46	chr12:84068532-84068582	PANC-1	pancreas:	n/a
47	chr12:84068532-84068582	Hepatocyte	liver:	n/a
48	chr12:84068532-84068582	MCF10A-Er-Src	breast:	n/a
49	chr12:84068532-84068582	AG10803	skin:	n/a
50	chr12:84068532-84068582	HRCEpiC	kidney:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:84031333..84032927-chr12:84034914..84036543,2	MCF-7	breast:
2	chr12:84031333..84032927-chr12:84034914..84036543,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC6A15-1	chr12:84054788-84055065	ENSG00000257124.2
2	lnc-SLC6A15-1	chr12:84055208-84055498	ENSG00000257124.2
3	lnc-SLC6A15-1	chr12:84054863-84055065	ENSG00000257124
4	lnc-SLC6A15-1	chr12:84055208-84055498	ENSG00000257124

Variant related genes	Relation type
ENSG00000257124	TF binding region
ENSG00000257124	CpG island
HAUS6	miRNA target sites
RBMX	miRNA target sites

Extended variants
information (count: 915 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369449630	chr12:84022257-84022258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35513666	chr12:84022271-84022272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543342369	chr12:84022328-84022329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554121922	chr12:84022352-84022353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189905883	chr12:84022359-84022360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566179523	chr12:84022411-84022412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113517709	chr12:84022440-84022441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566958985	chr12:84022502-84022503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138831518	chr12:84022527-84022528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549568616	chr12:84022539-84022540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567834687	chr12:84022607-84022608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538524758	chr12:84022617-84022618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142034975	chr12:84022627-84022628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572326901	chr12:84022640-84022641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75232604	chr12:84022657-84022658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184581743	chr12:84022661-84022662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553864654	chr12:84022662-84022663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148114942	chr12:84022710-84022711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572123280	chr12:84022713-84022714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56168986	chr12:84022749-84022750	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs75072474	chr12:84022755-84022756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554730287	chr12:84022777-84022778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188555791	chr12:84022781-84022782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558129036	chr12:84022850-84022851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376959999	chr12:84022865-84022866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1497348	chr12:84022876-84022877	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150672243	chr12:84022967-84022968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533107408	chr12:84023096-84023097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75173291	chr12:84023102-84023103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529462008	chr12:84023105-84023106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2667478	chr12:84023118-84023119	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs1497349	chr12:84023176-84023177	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs114971881	chr12:84023187-84023188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567838727	chr12:84023200-84023201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139961843	chr12:84023217-84023218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181352478	chr12:84023256-84023257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571979795	chr12:84023257-84023258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113269479	chr12:84023271-84023272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79076448	chr12:84023278-84023279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143347959	chr12:84023297-84023298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536332714	chr12:84023319-84023320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554406162	chr12:84023361-84023362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2667477	chr12:84023388-84023389	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570415756	chr12:84023460-84023461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113598232	chr12:84023537-84023538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112046576	chr12:84023545-84023546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576740755	chr12:84023572-84023573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567713944	chr12:84023576-84023577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560515956	chr12:84023590-84023591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572390387	chr12:84023591-84023592	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84022200-84024400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:84022200-84024800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:84023400-84025000	Enhancers	Fetal Brain Female	brain
4	chr12:84024200-84024400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:84024800-84025400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr12:84024800-84034000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:84025800-84026800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:84026400-84026800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:84033800-84035000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:84034000-84035600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:84034200-84034800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:84034200-84035000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:84034400-84034800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:84034800-84037200	Weak transcription	Gastric	stomach
15	chr12:84035800-84036000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:84035800-84036200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:84036000-84036200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:84054600-84056400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr12:84058400-84058800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr12:84058400-84058800	Enhancers	Fetal Heart	heart
21	chr12:84058800-84059200	Weak transcription	Fetal Heart	heart
22	chr12:84059200-84060200	Enhancers	Fetal Heart	heart
23	chr12:84059800-84060000	Enhancers	Left Ventricle	heart
24	chr12:84059800-84060200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr12:84060600-84060800	Enhancers	Left Ventricle	heart
26	chr12:84065400-84068000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:84068000-84068800	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr12:84070400-84072600	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr12:84074000-84074600	Enhancers	Fetal Heart	heart
30	chr12:84074200-84074400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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