Variant report

Variant	nsv983451
Chromosome Location	chr12:73598444-73611854
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	chr12:73604466-73604719	A549	lung:	n/a	n/a
2	CTCF	chr12:73601000-73601150	SAEC	small airway:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
3	CTCF	chr12:73601000-73601150	NHEK	skin:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
4	CTCF	chr12:73601076-73601151	Gliobla	brain:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
5	CTCF	chr12:73601000-73601150	MCF-7	breast:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
6	CTCF	chr12:73601040-73601190	NB4	blood:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
7	CTCF	chr12:73601040-73601190	WERI-Rb-1	eye:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
8	CTCF	chr12:73601080-73601230	HEK293	kidney:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
9	CTCF	chr12:73601044-73601147	MCF-7	breast:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
10	CTCF	chr12:73601047-73601183	MCF-7	breast:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
11	CTCF	chr12:73601060-73601210	HMEC	breast:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
12	CUX1	chr12:73603757-73603767	GM12878	blood:	n/a	n/a
13	E2F4	chr12:73603885-73604085	MCF10A-Er-Src	breast:	n/a	n/a
14	MYC	chr12:73604362-73604694	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr12:73604835-73604849	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr12:73605717-73605913	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr12:73603472-73603881	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr12:73608294-73608438	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr12:73604451-73604625	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr12:73603987-73604045	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr12:73610310-73610317	MCF10A-Er-Src	breast:	n/a	n/a
22	RAD21	chr12:73600890-73601265	H1-hESC	embryonic stem cell:	n/a	chr12:73601114-73601133
23	RAD21	chr12:73601009-73601283	H1-hESC	embryonic stem cell:	n/a	chr12:73601114-73601133
24	REST	chr12:73603190-73604001	H1-neurons	neurons:	n/a	n/a
25	STAT3	chr12:73604370-73604750	MCF10A-Er-Src	breast:	n/a	chr12:73604585-73604596
26	STAT3	chr12:73608140-73608156	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr12:73604456-73604771	MCF10A-Er-Src	breast:	n/a	chr12:73604585-73604596
28	STAT3	chr12:73604517-73604656	MCF10A-Er-Src	breast:	n/a	chr12:73604585-73604596
29	STAT3	chr12:73600698-73600739	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr12:73600828-73601025	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr12:73604523-73604748	MCF10A-Er-Src	breast:	n/a	chr12:73604585-73604596

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNC2-4	chr12:73605192-73605293	ENSG00000258109
2	lnc-TRHDE-2	chr12:73601227-73602097	ENSG00000258123
3	lnc-TRHDE-2	chr12:73600112-73600202	ENSG00000258123
4	lnc-ZFC3H1-9	chr12:73600426-73600615	ENSG00000257682

Variant related genes	Relation type
ENSG00000257682	TF binding region
SUN2	miRNA target sites

Extended variants
information (count: 141 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144265713	chr12:73600112-73600113	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs148748406	chr12:73600122-73600123	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs111332317	chr12:73600141-73600142	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs188895486	chr12:73600149-73600150	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs377215706	chr12:73600161-73600162	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs561054000	chr12:73600193-73600194	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs181591334	chr12:73600482-73600483	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs540375904	chr12:73600491-73600492	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs564975702	chr12:73600494-73600495	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs4465425	chr12:73600502-73600503	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs35221600	chr12:73600519-73600520	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs568729729	chr12:73600709-73600710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs534894398	chr12:73600852-73600853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs150779682	chr12:73600877-73600878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs571731679	chr12:73600916-73600917	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs538732350	chr12:73601006-73601007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs547402842	chr12:73601035-73601036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs557355598	chr12:73601054-73601055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs534784636	chr12:73601092-73601093	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs372601927	chr12:73601096-73601097	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs17112130	chr12:73601113-73601114	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532436573	chr12:73601121-73601122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs186253903	chr12:73601123-73601124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs542984604	chr12:73601125-73601126	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs11615274	chr12:73601132-73601133	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
26	rs573128274	chr12:73601148-73601149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs540436684	chr12:73601162-73601163	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs73329758	chr12:73601169-73601170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs376272900	chr12:73601203-73601204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs543947802	chr12:73601236-73601237	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs117410984	chr12:73601272-73601273	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs529644528	chr12:73601340-73601341	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs547740181	chr12:73601365-73601366	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs17112134	chr12:73601399-73601400	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs190188847	chr12:73601400-73601401	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs558116121	chr12:73601418-73601419	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs73164776	chr12:73601424-73601425	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs539159507	chr12:73601440-73601441	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs199527875	chr12:73601441-73601442	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs183121648	chr12:73601450-73601451	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs145316485	chr12:73601463-73601464	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs17112138	chr12:73601464-73601465	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs17112140	chr12:73601486-73601487	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs534051225	chr12:73601492-73601493	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs558743043	chr12:73601582-73601583	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs374942521	chr12:73601586-73601587	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs571581733	chr12:73601612-73601613	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs147560853	chr12:73601625-73601626	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs536399580	chr12:73601631-73601632	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs546800739	chr12:73601634-73601635	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Colorectal cancer	16272173	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
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73604000-73604200	Enhancers	Liver	Liver
2	chr12:73604200-73604800	Flanking Active TSS	Liver	Liver
3	chr12:73604800-73605000	Enhancers	Liver	Liver

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