Variant report

Variant	nsv973130
Chromosome Location	chr12:121541847-121547563
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	EBF1	chr12:121547473-121547691	GM12878	blood:	n/a	chr12:121547565-121547576 chr12:121547566-121547575 chr12:121547564-121547577 chr12:121547565-121547575
2	EBF1	chr12:121547453-121547688	GM12878	blood:	n/a	chr12:121547565-121547576 chr12:121547566-121547575 chr12:121547564-121547577 chr12:121547565-121547575
3	EBF1	chr12:121547382-121547706	GM12878	blood:	n/a	chr12:121547565-121547576 chr12:121547566-121547575 chr12:121547564-121547577 chr12:121547565-121547575
4	ESRRA	chr12:121547382-121548742	GM12878	blood:	n/a	chr12:121548256-121548268
5	FOSL2	chr12:121545470-121545817	HepG2	liver:	n/a	n/a
6	FOXA1	chr12:121547016-121547289	HepG2	liver:	n/a	n/a
7	FOXA1	chr12:121547016-121547291	HepG2	liver:	n/a	n/a
8	FOXA1	chr12:121547012-121547298	HepG2	liver:	n/a	n/a
9	FOXA1	chr12:121547042-121547280	HepG2	liver:	n/a	n/a
10	FOXA2	chr12:121547016-121547233	HepG2	liver:	n/a	n/a
11	JUND	chr12:121545534-121545815	K562	blood:	n/a	chr12:121545661-121545672
12	JUND	chr12:121545614-121545756	HepG2	liver:	n/a	chr12:121545661-121545672
13	KAP1	chr12:121542617-121542879	HEK293	kidney:	n/a	n/a
14	POLR2A	chr12:121542745-121542754	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr12:121542398-121542654	K562	blood:	n/a	n/a
16	POLR2A	chr12:121542891-121543068	GM12878	blood:	n/a	n/a
17	SETDB1	chr12:121542496-121542998	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121499365..121500300-chr12:121547555..121548757,7	MCF-7	breast:
2	chr12:121540942..121542575-chr12:121550109..121552835,2	K562	blood:
3	chr12:121547509..121549908-chr12:121645627..121647537,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223538	TF binding region
ENSG00000201945	TF binding region

Extended variants
information (count: 222 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191575050	chr12:121541872-121541873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150518936	chr12:121541898-121541899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550645223	chr12:121541911-121541912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181299429	chr12:121541952-121541953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200942376	chr12:121541987-121541988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536674359	chr12:121541990-121541991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564800533	chr12:121542008-121542009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35607692	chr12:121542027-121542028	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566978350	chr12:121542035-121542036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561061151	chr12:121542075-121542076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77145681	chr12:121542083-121542084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559100608	chr12:121542122-121542123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17432871	chr12:121542128-121542129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538514808	chr12:121542191-121542192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1796413	chr12:121542201-121542202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574864348	chr12:121542222-121542223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186415149	chr12:121542270-121542271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7302184	chr12:121542281-121542282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1796414	chr12:121542322-121542323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540000344	chr12:121542323-121542324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565080856	chr12:121542346-121542347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547332922	chr12:121542347-121542348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140983100	chr12:121542386-121542387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562664457	chr12:121542393-121542394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530084611	chr12:121542408-121542409	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs548603448	chr12:121542444-121542445	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs566916338	chr12:121542465-121542466	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs549257476	chr12:121542476-121542477	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs376738699	chr12:121542536-121542537	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs368644477	chr12:121542540-121542541	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs552422543	chr12:121542541-121542542	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs571001758	chr12:121542575-121542576	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs114731647	chr12:121542583-121542584	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs556780832	chr12:121542584-121542585	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs190852471	chr12:121542607-121542608	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs535801162	chr12:121542618-121542619	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs182247503	chr12:121542682-121542683	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs572546690	chr12:121542762-121542763	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs144829651	chr12:121542813-121542814	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs558399928	chr12:121542815-121542816	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs576943267	chr12:121542833-121542834	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs115288437	chr12:121542860-121542861	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs75837600	chr12:121542867-121542868	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs1794899	chr12:121542973-121542974	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs552025642	chr12:121542975-121542976	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs1796415	chr12:121543011-121543012	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs34514885	chr12:121543028-121543029	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs560485881	chr12:121543031-121543032	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs537750512	chr12:121543146-121543147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527713501	chr12:121543156-121543157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121534000-121545200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:121541800-121542200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:121544200-121544400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:121544200-121544800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:121544400-121544600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:121544600-121544800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:121544800-121547200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:121545200-121546200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:121545400-121545800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:121545400-121545800	Enhancers	Placenta	Placenta
11	chr12:121545600-121545800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:121546000-121548600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr12:121546200-121548200	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr12:121546600-121551800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:121547200-121548800	Enhancers	HepG2	liver
16	chr12:121547400-121548200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:121547400-121548400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr12:121547400-121548400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr12:121547400-121548600	Enhancers	Primary monocytes fromperipheralblood	blood

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