Variant report

Variant	nsv460965
Chromosome Location	chr3:163713551-163813752
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	BRCA1	chr3:163722192-163722316	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr3:163765379-163765657	HepG2	liver:	n/a	chr3:163765471-163765482
3	CEBPB	chr3:163766249-163766626	A549	lung:	n/a	chr3:163766435-163766446
4	CEBPB	chr3:163766296-163766594	H1-hESC	embryonic stem cell:	n/a	chr3:163766435-163766446
5	CEBPB	chr3:163766254-163766629	IMR90	lung:	n/a	chr3:163766435-163766446
6	CEBPB	chr3:163811663-163811965	MCF-7	breast:	n/a	chr3:163811787-163811796 chr3:163811785-163811796
7	CEBPB	chr3:163766342-163766605	ECC-1	luminal epithelium:	n/a	chr3:163766435-163766446
8	CEBPB	chr3:163811615-163811972	Hela-S3	cervix:	n/a	chr3:163811787-163811796 chr3:163811785-163811796
9	CEBPB	chr3:163776817-163777197	A549	lung:	n/a	chr3:163777001-163777012
10	CEBPB	chr3:163767753-163767980	HepG2	liver:	n/a	chr3:163767891-163767904
11	CEBPB	chr3:163811718-163811889	H1-hESC	embryonic stem cell:	n/a	chr3:163811787-163811796 chr3:163811785-163811796
12	CEBPB	chr3:163800790-163801049	HepG2	liver:	n/a	chr3:163800890-163800901
13	CEBPB	chr3:163776822-163777172	IMR90	lung:	n/a	chr3:163777001-163777012
14	CEBPB	chr3:163765442-163765609	A549	lung:	n/a	chr3:163765471-163765482
15	CEBPB	chr3:163766262-163766585	K562	blood:	n/a	chr3:163766435-163766446
16	CEBPB	chr3:163805104-163805270	HepG2	liver:	n/a	chr3:163805134-163805145
17	CEBPB	chr3:163776828-163777158	HepG2	liver:	n/a	chr3:163777001-163777012
18	CEBPB	chr3:163742739-163742774	A549	lung:	n/a	n/a
19	CEBPB	chr3:163767676-163768024	Hela-S3	cervix:	n/a	chr3:163767891-163767904
20	CEBPB	chr3:163776930-163777140	H1-hESC	embryonic stem cell:	n/a	chr3:163777001-163777012
21	CEBPB	chr3:163766257-163766618	HepG2	liver:	n/a	chr3:163766435-163766446
22	CEBPB	chr3:163766344-163766626	MCF-7	breast:	n/a	chr3:163766435-163766446
23	CEBPB	chr3:163766280-163766585	Hela-S3	cervix:	n/a	chr3:163766435-163766446
24	CEBPB	chr3:163722123-163722274	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr3:163811617-163811939	HepG2	liver:	n/a	chr3:163811787-163811796 chr3:163811785-163811796
26	CHD2	chr3:163722101-163722388	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr3:163736420-163736570	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr3:163729568-163729594	MCF-7	breast:	n/a	n/a
29	CTCF	chr3:163736500-163736650	MCF-7	breast:	n/a	n/a
30	CTCF	chr3:163768223-163768250	GM13977	blood:	n/a	n/a
31	CTCF	chr3:163736400-163736690	HCT-116	colon:	n/a	n/a
32	CTCF	chr3:163729030-163729112	GM20000	blood:	n/a	n/a
33	CTCF	chr3:163722086-163722401	H1-hESC	embryonic stem cell:	n/a	chr3:163722244-163722257
34	CTCF	chr3:163722250-163722265	MCF-7	breast:	n/a	n/a
35	CTCF	chr3:163722146-163722360	H1-hESC	embryonic stem cell:	n/a	chr3:163722244-163722257
36	CTCF	chr3:163722080-163722370	HCT-116	colon:	n/a	chr3:163722244-163722257
37	CTCF	chr3:163722120-163722270	GM12866	blood:	n/a	chr3:163722244-163722257
38	CTCF	chr3:163722178-163722338	K562	blood:	n/a	chr3:163722244-163722257
39	CTCF	chr3:163729009-163729072	LNCaP	prostate:	n/a	n/a
40	CTCF	chr3:163722040-163722190	HCT-116	colon:	n/a	n/a
41	CTCF	chr3:163736429-163736549	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr3:163722154-163722352	K562	blood:	n/a	chr3:163722244-163722257
43	CTCF	chr3:163742189-163742228	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr3:163722192-163722314	MCF-7	breast:	n/a	chr3:163722244-163722257
45	CTCF	chr3:163722180-163722330	Hela-S3	cervix:	n/a	chr3:163722244-163722257
46	CTCF	chr3:163722140-163722290	GM12865	blood:	n/a	chr3:163722244-163722257
47	CTCF	chr3:163722060-163722210	HFF-Myc	foreskin:	n/a	n/a
48	CTCF	chr3:163722240-163722390	NB4	blood:	n/a	chr3:163722244-163722257
49	CTCF	chr3:163791234-163791365	GM10248	blood:	n/a	n/a
50	CTCF	chr3:163809756-163809799	Fibrobl	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:163722208-163722258	GM19239	blood:	n/a
2	chr3:163722051-163722101	HEEpiC	esophagus:	n/a
3	chr3:163722208-163722258	GM19239	blood:	n/a
4	chr3:163722051-163722101	HEEpiC	esophagus:	n/a
5	chr3:163719428-163719478	Caco-2	colon:	n/a
6	chr3:163719236-163719286	NHBE	bronchial:	n/a
7	chr3:163719428-163719478	K562	blood:	n/a
8	chr3:163722294-163722344	PrEC	prostate:	n/a
9	chr3:163719428-163719478	HEK293	kidney:	embryo
10	chr3:163722051-163722101	HIPEpiC	eye:	n/a
11	chr3:163719428-163719478	HAEpiC	amniotic membrane:	n/a
12	chr3:163719236-163719286	GM19239	blood:	n/a
13	chr3:163719428-163719478	BE2_C	brain:	n/a
14	chr3:163719428-163719478	GM12878	blood:	n/a
15	chr3:163719428-163719478	HEEpiC	esophagus:	n/a
16	chr3:163722294-163722344	SAEC	small airway:	n/a
17	chr3:163722051-163722101	BJ	skin:	n/a
18	chr3:163722294-163722344	MCF-7	breast:	n/a
19	chr3:163722294-163722344	HRE	kidney:	n/a
20	chr3:163722294-163722344	HAEpiC	amniotic membrane:	n/a
21	chr3:163722051-163722101	HAEpiC	amniotic membrane:	n/a
22	chr3:163722208-163722258	U87	brain:	n/a
23	chr3:163722208-163722258	PANC-1	pancreas:	n/a
24	chr3:163722294-163722344	CMK	blood:	n/a
25	chr3:163719428-163719478	T-47D	breast:	n/a
26	chr3:163719236-163719286	HCM	heart:	n/a
27	chr3:163722051-163722101	NH-A	brain:	n/a
28	chr3:163722051-163722101	ProgFib	skin:	n/a
29	chr3:163722051-163722101	GM12892	blood:	n/a
30	chr3:163722208-163722258	PFSK-1	brain:	n/a
31	chr3:163719236-163719286	SK-N-SH	brain:	n/a
32	chr3:163719428-163719478	HCM	heart:	n/a
33	chr3:163719236-163719286	NB4	blood:	n/a
34	chr3:163719428-163719478	LNCaP	prostate:	n/a
35	chr3:163719236-163719286	AG10803	skin:	n/a
36	chr3:163722208-163722258	HL-60	blood:	n/a
37	chr3:163722208-163722258	Hepatocyte	liver:	n/a
38	chr3:163722294-163722344	AG04449	skin:	fetal
39	chr3:163719236-163719286	MCF10A-Er-Src	breast:	n/a
40	chr3:163719236-163719286	NH-A	brain:	n/a
41	chr3:163722051-163722101	NT2-D1	testis:	n/a
42	chr3:163719236-163719286	K562	blood:	n/a
43	chr3:163719236-163719286	HAEpiC	amniotic membrane:	n/a
44	chr3:163719236-163719286	BE2_C	brain:	n/a
45	chr3:163722294-163722344	HCF	heart:	n/a
46	chr3:163722208-163722258	K562	blood:	n/a
47	chr3:163719428-163719478	CMK	blood:	n/a
48	chr3:163722208-163722258	SAEC	small airway:	n/a
49	chr3:163722208-163722258	SK-N-MC	brain:	n/a
50	chr3:163719236-163719286	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:163759624..163761925-chr3:163765313..163767072,2	MCF-7	breast:
2	chr3:163738641..163741233-chr3:163742705..163744722,2	MCF-7	breast:
3	chr3:163741470..163744256-chr3:163747090..163749437,2	K562	blood:
4	chr3:163738641..163741233-chr3:163742705..163744722,2	MCF-7	breast:
5	chr3:163756511..163759205-chr3:163797731..163799263,2	MCF-7	breast:
6	chr3:163759624..163761925-chr3:163765313..163767072,2	MCF-7	breast:
7	chr14:86195432..86196215-chr3:163793960..163794780,2	MCF-7	breast:
8	chr3:163741470..163744256-chr3:163747090..163749437,2	K562	blood:
9	chr3:163756511..163759205-chr3:163797731..163799263,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SI-6	chr3:163719394-163720253	NONHSAT093045

Variant related genes	Relation type
ENSG00000214210	TF binding region
ENSG00000214210	CpG island

Extended variants
information (count: 3123 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:3123 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533077162	chr3:163719229-163719230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34968380	chr3:163719236-163719237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376139413	chr3:163719237-163719238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566676494	chr3:163719271-163719272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535686428	chr3:163719278-163719279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79337210	chr3:163719294-163719295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370458202	chr3:163719303-163719304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201555058	chr3:163719323-163719324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs36074517	chr3:163719325-163719326	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs35777982	chr3:163719327-163719328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397698871	chr3:163719328-163719329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565657371	chr3:163719341-163719342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537034076	chr3:163719358-163719359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368071281	chr3:163719377-163719378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146666655	chr3:163719382-163719383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576895177	chr3:163719394-163719395	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs541852327	chr3:163719410-163719411	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs202208053	chr3:163719428-163719429	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs573094956	chr3:163719429-163719430	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs374514412	chr3:163719442-163719443	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs542457697	chr3:163719578-163719579	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs540565515	chr3:163719579-163719580	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs148843918	chr3:163719604-163719605	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs575930170	chr3:163719626-163719627	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs186733319	chr3:163719713-163719714	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs192345241	chr3:163719716-163719717	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs533012872	chr3:163719753-163719754	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs546728119	chr3:163719757-163719758	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs533203915	chr3:163719763-163719764	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs76509988	chr3:163719808-163719809	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs201261256	chr3:163719819-163719820	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs549194596	chr3:163719837-163719838	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs551098309	chr3:163719841-163719842	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs569019991	chr3:163719884-163719885	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs375154989	chr3:163719906-163719907	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs569622969	chr3:163719917-163719918	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs183270727	chr3:163719923-163719924	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs35457968	chr3:163719924-163719925	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs536792067	chr3:163719948-163719949	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs186887475	chr3:163720011-163720012	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs555488069	chr3:163720026-163720027	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs553049456	chr3:163720041-163720042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs573031832	chr3:163720054-163720055	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs535659253	chr3:163720055-163720056	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs555943905	chr3:163720063-163720064	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs575820371	chr3:163720074-163720075	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs544893266	chr3:163720076-163720077	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs567336645	chr3:163720081-163720082	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs189967004	chr3:163720098-163720099	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs577707645	chr3:163720120-163720121	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163719200-163719800	Enhancers	Fetal Stomach	stomach
2	chr3:163720600-163721200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:163721200-163721800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:163721800-163722000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:163722000-163722200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:163722200-163724600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:163724800-163727000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:163738600-163739200	Enhancers	Dnd41	blood
9	chr3:163739000-163739400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:163739400-163740400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:163740400-163740600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:163744200-163745800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:163745800-163749000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:163749000-163752600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:163752600-163754000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:163754000-163754400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:163754400-163757600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:163757600-163758400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:163758400-163771800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:163758600-163759400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:163758600-163759400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:163758600-163759800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:163759800-163761200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:163761400-163761600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:163763800-163764000	Enhancers	Placenta	Placenta
26	chr3:163764000-163768000	Weak transcription	Placenta	Placenta
27	chr3:163765800-163766000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:163766000-163766200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:163768000-163768200	Enhancers	Placenta	Placenta
30	chr3:163771800-163795600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:163795600-163796000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:163796000-163797400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:163797400-163798800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:163798800-163803400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:163803400-163804400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:163804400-163805400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:163805400-163806800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:163806800-163811400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:163811400-163814400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:163811800-163814400	Enhancers	Dnd41	blood

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