Variant report

Variant	nsv869995
Chromosome Location	chr12:20929531-21081863
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	ARID3A	chr12:20961418-20961995	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:20983563-20983814	HepG2	liver:	n/a	n/a
3	ATF1	chr12:20937716-20937850	K562	blood:	n/a	n/a
4	BATF	chr12:21021928-21022137	GM12878	blood:	n/a	chr12:21022019-21022030
5	BCL3	chr12:20983287-20983862	A549	lung:	n/a	n/a
6	BHLHE40	chr12:21017099-21017177	GM12878	blood:	n/a	n/a
7	BRCA1	chr12:20946993-20947034	HepG2	liver:	n/a	n/a
8	BRCA1	chr12:20975364-20975513	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr12:20982312-20982493	IMR90	lung:	n/a	chr12:20982413-20982424
10	CEBPB	chr12:21038089-21038427	A549	lung:	n/a	n/a
11	CEBPB	chr12:20961440-20961862	HepG2	liver:	n/a	chr12:20961744-20961757
12	CEBPB	chr12:20991877-20992081	HepG2	liver:	n/a	chr12:20992038-20992049
13	CEBPB	chr12:21056070-21056238	HepG2	liver:	n/a	n/a
14	CEBPB	chr12:20961462-20961896	HepG2	liver:	n/a	chr12:20961744-20961757
15	CEBPB	chr12:21071557-21071721	A549	lung:	n/a	n/a
16	CEBPB	chr12:20983497-20983867	A549	lung:	n/a	chr12:20983711-20983722
17	CEBPB	chr12:21065012-21065124	HepG2	liver:	n/a	chr12:21065034-21065045
18	CEBPB	chr12:21015510-21015751	A549	lung:	n/a	n/a
19	CEBPB	chr12:20991943-20992076	A549	lung:	n/a	chr12:20992038-20992049
20	CEBPB	chr12:20983601-20983801	Hela-S3	cervix:	n/a	chr12:20983711-20983722
21	CEBPB	chr12:21036286-21036659	A549	lung:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
22	CEBPB	chr12:20983564-20983877	HepG2	liver:	n/a	chr12:20983711-20983722
23	CEBPB	chr12:21036155-21036832	A549	lung:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
24	CEBPB	chr12:20961578-20961819	HepG2	liver:	n/a	chr12:20961744-20961757
25	CEBPB	chr12:20983420-20984015	A549	lung:	n/a	chr12:20983711-20983722
26	CEBPB	chr12:20982284-20982555	A549	lung:	n/a	chr12:20982413-20982424
27	CEBPB	chr12:20975351-20976142	A549	lung:	n/a	n/a
28	CEBPB	chr12:21036323-21036549	HepG2	liver:	n/a	chr12:21036463-21036474
29	CEBPB	chr12:21038060-21038439	A549	lung:	n/a	n/a
30	CEBPB	chr12:21037942-21038507	A549	lung:	n/a	n/a
31	CEBPB	chr12:20932046-20932199	HepG2	liver:	n/a	n/a
32	CEBPB	chr12:20975368-20976107	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr12:20983561-20984147	A549	lung:	n/a	chr12:20983711-20983722
34	CEBPB	chr12:21036268-21036667	A549	lung:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
35	CEBPB	chr12:20982280-20982503	HepG2	liver:	n/a	chr12:20982413-20982424
36	CEBPB	chr12:21036282-21036646	Hela-S3	cervix:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
37	CHD2	chr12:20975360-20975559	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr12:20951580-20951781	T-47D	breast:	n/a	chr12:20951705-20951723 chr12:20951700-20951721
39	CTCF	chr12:21022178-21022245	GM19238	blood:	n/a	n/a
40	CTCF	chr12:21022144-21022253	K562	blood:	n/a	n/a
41	CTCF	chr12:21022138-21022262	Fibrobl	skin:	n/a	n/a
42	CTCF	chr12:20951620-20951770	AG09309	skin:	n/a	chr12:20951705-20951723 chr12:20951700-20951721
43	CTCF	chr12:20951600-20951750	MCF-7	breast:	n/a	chr12:20951705-20951723 chr12:20951700-20951721
44	CTCF	chr12:20951608-20951828	LNCaP	prostate:	n/a	chr12:20951705-20951723 chr12:20951700-20951721
45	CTCF	chr12:20951560-20951710	AoAF	blood vessel:	n/a	n/a
46	CTCF	chr12:20951580-20951730	HepG2	liver:	n/a	chr12:20951705-20951723 chr12:20951700-20951721
47	CTCF	chr12:20951586-20951828	Hela-S3	cervix:	n/a	chr12:20951705-20951723 chr12:20951700-20951721
48	CTCF	chr12:20951591-20951803	HepG2	liver:	n/a	chr12:20951705-20951723 chr12:20951700-20951721
49	CTCF	chr12:20951560-20951710	HCM	heart:	n/a	n/a
50	CTCF	chr12:20951640-20951790	HBMEC	blood vessel:	n/a	chr12:20951705-20951723 chr12:20951700-20951721

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:20966439-20966489	NH-A	brain:	n/a
2	chr12:20966439-20966489	NH-A	brain:	n/a
3	chr12:20983111-20983161	CMK	blood:	n/a
4	chr12:20960409-20960459	HPAEpiC	pulmonary alveolar:	n/a
5	chr12:21014317-21014367	BE2_C	brain:	n/a
6	chr12:20966524-20966574	IMR90	lung:	fetal
7	chr12:20962423-20962473	AoSMC	blood vessel:	n/a
8	chr12:21014317-21014367	PrEC	prostate:	n/a
9	chr12:20966524-20966574	AG09319	gingival:	n/a
10	chr12:20983111-20983161	SK-N-SH_RA	brain:	n/a
11	chr12:20935811-20935861	MCF-7	breast:	n/a
12	chr12:20935754-20935804	PrEC	prostate:	n/a
13	chr12:20960446-20960496	CMK	blood:	n/a
14	chr12:20966439-20966489	HRE	kidney:	n/a
15	chr12:20966439-20966489	U87	brain:	n/a
16	chr12:20983111-20983161	IMR90	lung:	fetal
17	chr12:20935811-20935861	HRCEpiC	kidney:	n/a
18	chr12:21014317-21014367	HRCEpiC	kidney:	n/a
19	chr12:21014317-21014367	BJ	skin:	n/a
20	chr12:20960446-20960496	Caco-2	colon:	n/a
21	chr12:20966439-20966489	HNPCEpiC	eye:	n/a
22	chr12:20935811-20935861	HCM	heart:	n/a
23	chr12:20960409-20960459	PFSK-1	brain:	n/a
24	chr12:20960409-20960459	AG09319	gingival:	n/a
25	chr12:20935811-20935861	HMEC	breast:	n/a
26	chr12:20983111-20983161	LNCaP	prostate:	n/a
27	chr12:20935754-20935804	HEEpiC	esophagus:	n/a
28	chr12:21015340-21015390	HEK293	kidney:	embryo
29	chr12:20960446-20960496	GM12892	blood:	n/a
30	chr12:20935811-20935861	LNCaP	prostate:	n/a
31	chr12:20960409-20960459	NT2-D1	testis:	n/a
32	chr12:20935799-20935849	BE2_C	brain:	n/a
33	chr12:21014317-21014367	HIPEpiC	eye:	n/a
34	chr12:20935811-20935861	HRPEpiC	eye:	n/a
35	chr12:20966439-20966489	HCT-116	colon:	n/a
36	chr12:20960409-20960459	ECC-1	luminal epithelium:	n/a
37	chr12:20935799-20935849	LNCaP	prostate:	n/a
38	chr12:20935811-20935861	SKMC	muscle:	n/a
39	chr12:20935754-20935804	T-47D	breast:	n/a
40	chr12:21014317-21014367	LNCaP	prostate:	n/a
41	chr12:21015340-21015390	HUVEC	blood vessel:	n/a
42	chr12:20983111-20983161	Jurkat	blood:	n/a
43	chr12:20962423-20962473	Jurkat	blood:	n/a
44	chr12:20966524-20966574	Caco-2	colon:	n/a
45	chr12:20935754-20935804	HNPCEpiC	eye:	n/a
46	chr12:20935754-20935804	HUVEC	blood vessel:	n/a
47	chr12:21015340-21015390	A549	lung:	n/a
48	chr12:20960409-20960459	Hepatocyte	liver:	n/a
49	chr12:20960409-20960459	HRE	kidney:	n/a
50	chr12:20960409-20960459	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:20798864..20799798-chr12:20951213..20952118,4	MCF-7	breast:
2	chr12:20798899..20799416-chr12:20951641..20952181,2	MCF-7	breast:
3	chr12:20639028..20639571-chr12:20951385..20952022,2	MCF-7	breast:

Variant related genes	Relation type
SLCO1B3	TF binding region
ENSG00000256157	TF binding region
ENSG00000257046	TF binding region
SLCO1B7	TF binding region
SLCO1B3	CpG island
ENSG00000256157	CpG island
ENSG00000257046	CpG island
SLCO1B7	CpG island

Extended variants
information (count: 6469 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:6469 , 50 per page) page: 1 2 3 4 5 6 7 ... 130

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532941675	chr12:20931429-20931430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188704675	chr12:20931432-20931433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553090986	chr12:20931460-20931461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371660953	chr12:20931492-20931493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181127486	chr12:20931497-20931498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549267901	chr12:20931503-20931504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11494694	chr12:20931540-20931541	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183869996	chr12:20931541-20931542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528650713	chr12:20931560-20931561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551448525	chr12:20931603-20931604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10841639	chr12:20931626-20931627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188386869	chr12:20931658-20931659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543249144	chr12:20931689-20931690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34467576	chr12:20931729-20931730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397757211	chr12:20931735-20931736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556044701	chr12:20931764-20931765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569811380	chr12:20931771-20931772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549622142	chr12:20931781-20931782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535732651	chr12:20931787-20931788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180802266	chr12:20931827-20931828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373541704	chr12:20931839-20931840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187634296	chr12:20931855-20931856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11537388	chr12:20931915-20931916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557852813	chr12:20931923-20931924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577732594	chr12:20931924-20931925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543395577	chr12:20931932-20931933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191954482	chr12:20931979-20931980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574291749	chr12:20932012-20932013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141923549	chr12:20932039-20932040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559722009	chr12:20932047-20932048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75847994	chr12:20932079-20932080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181932342	chr12:20932089-20932090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532976161	chr12:20932115-20932116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564993248	chr12:20932132-20932133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369635353	chr12:20932172-20932173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550602195	chr12:20932174-20932175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115286966	chr12:20932175-20932176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151154733	chr12:20932213-20932214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185730366	chr12:20932222-20932223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565751247	chr12:20932231-20932232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190196375	chr12:20932287-20932288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557888005	chr12:20932300-20932301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12311665	chr12:20932321-20932322	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs182635124	chr12:20932385-20932386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556726884	chr12:20932386-20932387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573557586	chr12:20932393-20932394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1829009	chr12:20932399-20932400	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1829008	chr12:20932442-20932443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568414023	chr12:20932462-20932463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186958250	chr12:20932465-20932466	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20931400-20933000	Enhancers	Liver	Liver
2	chr12:20931800-20932200	Enhancers	Adipose Nuclei	Adipose
3	chr12:20931800-20932400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:20942600-20961200	Weak transcription	A549	lung
5	chr12:20949400-20949600	Enhancers	Brain Anterior Caudate	brain
6	chr12:20951200-20951600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:20951200-20951600	Enhancers	Liver	Liver
8	chr12:20951200-20952000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:20951200-20953000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:20951400-20951600	Enhancers	Adipose Nuclei	Adipose
11	chr12:20951600-20952800	Weak transcription	Adipose Nuclei	Adipose
12	chr12:20951600-20953200	Weak transcription	Liver	Liver
13	chr12:20951800-20952200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:20952000-20953000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:20952800-20953400	Enhancers	Adipose Nuclei	Adipose
16	chr12:20953000-20953200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr12:20953000-20953600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:20953000-20954600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:20953200-20953600	Enhancers	Liver	Liver
20	chr12:20953200-20958000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:20953600-20954600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:20954600-20957800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:20954600-20957800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:20957000-20957200	Enhancers	Primary hematopoietic stem cells	blood
25	chr12:20957200-20957800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr12:20957800-20959800	Enhancers	Primary hematopoietic stem cells	blood
27	chr12:20957800-20961200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:20957800-20962400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:20958000-20960000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr12:20959600-20959800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:20959800-20960800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:20960000-20960800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:20960200-20961000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:20960800-20961000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:20960800-20961800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr12:20960800-20962400	Enhancers	Primary hematopoietic stem cells	blood
37	chr12:20961000-20961400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:20961000-20961400	Enhancers	Liver	Liver
39	chr12:20961200-20962000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:20961200-20962000	Strong transcription	A549	lung
41	chr12:20961400-20961800	Enhancers	Fetal Kidney	kidney
42	chr12:20961400-20962200	Flanking Active TSS	Liver	Liver
43	chr12:20961400-20962400	Enhancers	HepG2	liver
44	chr12:20962000-20963000	Weak transcription	A549	lung
45	chr12:20962000-20965000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:20962200-20963000	Enhancers	Liver	Liver
47	chr12:20962400-20962800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:20962400-20964000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:20963000-20963200	Flanking Active TSS	Liver	Liver
50	chr12:20963000-20964200	Enhancers	A549	lung

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