Variant report

Variant	nsv877848
Chromosome Location	chr3:163857437-163922738
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	chr3:163881866-163881882	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr3:163917764-163918192	MCF-7	breast:	n/a	n/a
3	CEBPB	chr3:163912780-163912994	A549	lung:	n/a	n/a
4	CEBPB	chr3:163890818-163891012	HepG2	liver:	n/a	chr3:163890911-163890922
5	CEBPB	chr3:163859641-163859926	HepG2	liver:	n/a	n/a
6	CEBPB	chr3:163912779-163913052	HepG2	liver:	n/a	n/a
7	CEBPB	chr3:163917743-163918240	MCF-7	breast:	n/a	n/a
8	CEBPB	chr3:163890801-163890962	H1-hESC	embryonic stem cell:	n/a	chr3:163890911-163890922
9	CEBPB	chr3:163886053-163886253	HepG2	liver:	n/a	chr3:163886110-163886119 chr3:163886110-163886119 chr3:163886110-163886119 chr3:163886109-163886120 chr3:163886108-163886121 chr3:163886108-163886119 chr3:163886110-163886119
10	CEBPB	chr3:163860167-163860485	HepG2	liver:	n/a	chr3:163860323-163860334
11	CEBPB	chr3:163917760-163918155	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr3:163885974-163886233	A549	lung:	n/a	chr3:163886110-163886119 chr3:163886110-163886119 chr3:163886110-163886119 chr3:163886109-163886120 chr3:163886108-163886121 chr3:163886108-163886119 chr3:163886110-163886119
13	CEBPB	chr3:163912738-163913096	MCF-7	breast:	n/a	n/a
14	CTCF	chr3:163912765-163912878	GM13977	blood:	n/a	n/a
15	CTCF	chr3:163912720-163912870	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr3:163912752-163912920	MCF-7	breast:	n/a	n/a
17	CTCF	chr3:163922659-163922693	Lung_OC	lung:	n/a	n/a
18	CTCF	chr3:163880586-163880705	MCF-7	breast:	n/a	n/a
19	CTCF	chr3:163912720-163912870	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr3:163912802-163912803	Medullo	brain:	n/a	n/a
21	CTCF	chr3:163912800-163912950	HRE	kidney:	n/a	n/a
22	CTCF	chr3:163904020-163904170	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr3:163881140-163881290	MCF-7	breast:	n/a	n/a
24	CTCF	chr3:163912707-163912920	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr3:163912700-163912850	GM12878	blood:	n/a	n/a
26	CTCF	chr3:163912940-163913090	RPTEC	kidney:	n/a	n/a
27	CTCF	chr3:163912789-163912895	HepG2	liver:	n/a	n/a
28	CTCF	chr3:163912720-163912870	MCF-7	breast:	n/a	n/a
29	CTCF	chr3:163912680-163912830	HCT-116	colon:	n/a	n/a
30	CTCF	chr3:163912655-163913000	GM12878	blood:	n/a	n/a
31	CTCF	chr3:163880560-163880710	MCF-7	breast:	n/a	n/a
32	CTCF	chr3:163880640-163880685	MCF-7	breast:	n/a	n/a
33	CTCF	chr3:163859657-163859699	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr3:163912680-163912830	HepG2	liver:	n/a	n/a
35	CTCF	chr3:163912760-163912910	Caco-2	colon:	n/a	n/a
36	CTCF	chr3:163904007-163904194	GM12878	blood:	n/a	n/a
37	CTCF	chr3:163878567-163878614	LNCaP	prostate:	n/a	n/a
38	CTCF	chr3:163912740-163912890	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr3:163912827-163912870	GM10266	blood:	n/a	n/a
40	CTCF	chr3:163912820-163912970	HepG2	liver:	n/a	n/a
41	CTCF	chr3:163912772-163912897	MCF-7	breast:	n/a	n/a
42	CTCF	chr3:163880629-163880686	MCF-7	breast:	n/a	n/a
43	CTCF	chr3:163904028-163904120	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr3:163912740-163912890	NB4	blood:	n/a	n/a
45	CTCF	chr3:163912760-163912910	HCT-116	colon:	n/a	n/a
46	CTCF	chr3:163912840-163912990	BE2_C	brain:	n/a	n/a
47	CTCF	chr3:163904025-163904117	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr3:163880560-163880710	Caco-2	colon:	n/a	n/a
49	CTCF	chr3:163912755-163912907	GM12878	blood:	n/a	n/a
50	CTCF	chr3:163912660-163912810	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:163919977..163922257-chr3:163923536..163925910,2	MCF-7	breast:
2	chr10:36759743..36761957-chr3:163916939..163919179,2	K562	blood:
3	chr17:57914661..57917089-chr3:163901184..163903192,2	MCF-7	breast:
4	chr3:163916797..163919508-chr3:163924219..163927520,3	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-1263	chr3:163889311-163889332	MIMAT0005915

Variant related genes	Relation type
MIR1263	TF binding region
ENSG00000062716	chromatin interactions

Extended variants
information (count: 2787 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2787 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1839412	chr3:163857437-163857438	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138654740	chr3:163857443-163857444	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559445573	chr3:163857546-163857547	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528793728	chr3:163857554-163857555	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545691327	chr3:163857566-163857567	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533468822	chr3:163857567-163857568	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141072102	chr3:163857569-163857570	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567111570	chr3:163857587-163857588	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536132547	chr3:163857688-163857689	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531559087	chr3:163857698-163857699	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73172620	chr3:163857756-163857757	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs137985088	chr3:163857766-163857767	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537412344	chr3:163857787-163857788	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557741548	chr3:163857788-163857789	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549440108	chr3:163857794-163857795	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182906255	chr3:163857846-163857847	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114768599	chr3:163857881-163857882	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573533137	chr3:163857923-163857924	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542885206	chr3:163857924-163857925	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12487536	chr3:163857960-163857961	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576302000	chr3:163857984-163857985	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544233738	chr3:163857994-163857995	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564519106	chr3:163858040-163858041	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141698791	chr3:163858080-163858081	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547152441	chr3:163858123-163858124	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560650071	chr3:163858133-163858134	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529441189	chr3:163858142-163858143	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150559017	chr3:163858174-163858175	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138612758	chr3:163858190-163858191	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149323350	chr3:163858207-163858208	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538531604	chr3:163858219-163858220	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550957439	chr3:163858268-163858269	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187506029	chr3:163858273-163858274	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73172621	chr3:163858319-163858320	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535755471	chr3:163858326-163858327	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377508860	chr3:163858334-163858335	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565697685	chr3:163858383-163858384	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569780009	chr3:163858412-163858413	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553478634	chr3:163858432-163858433	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370566006	chr3:163858470-163858471	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528935657	chr3:163858471-163858472	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1349607	chr3:163858483-163858484	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs556327067	chr3:163858494-163858495	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115862629	chr3:163858503-163858504	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557864473	chr3:163858518-163858519	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75264778	chr3:163858521-163858522	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565505440	chr3:163858547-163858548	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1349285	chr3:163858560-163858561	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs116782773	chr3:163858581-163858582	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192642704	chr3:163858617-163858618	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163854600-163862000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163860000-163861400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:163862000-163870200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:163863200-163866400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr3:163865800-163867600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr3:163868200-163870200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:163870200-163874600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:163873400-163873800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:163874600-163879600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:163875800-163876200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:163879600-163898800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:163881400-163881600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:163883600-163885200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:163885200-163886000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:163886000-163886200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:163890800-163892800	Enhancers	Dnd41	blood
17	chr3:163892600-163892800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:163896800-163897400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:163898800-163904200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:163904200-163912800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:163911000-163911600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:163912400-163912800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:163912800-163913000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:163912800-163918400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:163913000-163914000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:163914000-163914600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:163914600-163915800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:163915800-163916400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:163916400-163917200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:163917200-163918000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:163918000-163918600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:163918200-163918600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr3:163918400-163918600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr3:163918600-163919400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:163919400-163925600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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