Variant report

Variant	nsv877841
Chromosome Location	chr3:163835270-163898428
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	chr3:163890818-163891012	HepG2	liver:	n/a	chr3:163890911-163890922
3	CEBPB	chr3:163860167-163860485	HepG2	liver:	n/a	chr3:163860323-163860334
4	CEBPB	chr3:163855035-163855235	HepG2	liver:	n/a	chr3:163855103-163855114
5	CEBPB	chr3:163859641-163859926	HepG2	liver:	n/a	n/a
6	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
7	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
8	CEBPB	chr3:163890801-163890962	H1-hESC	embryonic stem cell:	n/a	chr3:163890911-163890922
9	CTCF	chr3:163851580-163851730	HCT-116	colon:	n/a	n/a
10	CTCF	chr3:163880629-163880686	MCF-7	breast:	n/a	n/a
11	CTCF	chr3:163888360-163888510	MCF-7	breast:	n/a	n/a
12	CTCF	chr3:163851640-163851790	MCF-7	breast:	n/a	n/a
13	CTCF	chr3:163843400-163843550	MCF-7	breast:	n/a	n/a
14	CTCF	chr3:163880640-163880685	MCF-7	breast:	n/a	n/a
15	CTCF	chr3:163880560-163880710	MCF-7	breast:	n/a	n/a
16	CTCF	chr3:163878567-163878614	LNCaP	prostate:	n/a	n/a
17	CTCF	chr3:163859657-163859699	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr3:163880560-163880710	Caco-2	colon:	n/a	n/a
19	CTCF	chr3:163888600-163888750	MCF-7	breast:	n/a	n/a
20	CTCF	chr3:163866020-163866170	MCF-7	breast:	n/a	n/a
21	CTCF	chr3:163851760-163851910	MCF-7	breast:	n/a	n/a
22	CTCF	chr3:163881140-163881290	MCF-7	breast:	n/a	n/a
23	CTCF	chr3:163880586-163880705	MCF-7	breast:	n/a	n/a
24	CTCF	chr3:163851600-163851750	Hela-S3	cervix:	n/a	n/a
25	E2F4	chr3:163847853-163848085	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr3:163848965-163849077	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr3:163847123-163847160	MCF10A-Er-Src	breast:	n/a	n/a
28	EP300	chr3:163872321-163872382	GM12878	blood:	n/a	n/a
29	FOS	chr3:163873223-163873500	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr3:163841578-163841636	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr3:163873221-163873525	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr3:163873204-163873530	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr3:163895584-163895753	MCF10A-Er-Src	breast:	n/a	n/a
34	FOXA1	chr3:163880906-163881071	T-47D	breast:	n/a	n/a
35	FOXA1	chr3:163839565-163839900	T-47D	breast:	n/a	n/a
36	GATA3	chr3:163836376-163836487	SH-SY5Y	brain:	n/a	n/a
37	GATA3	chr3:163862604-163862768	SH-SY5Y	brain:	n/a	n/a
38	JUN	chr3:163872678-163872736	K562	blood:	n/a	n/a
39	KAP1	chr3:163862471-163863165	HEK293	kidney:	n/a	n/a
40	KAP1	chr3:163862664-163862969	U2OS	brain:	n/a	n/a
41	KAP1	chr3:163865254-163865460	K562	blood:	n/a	n/a
42	KAP1	chr3:163867304-163867709	HEK293	kidney:	n/a	n/a
43	MAFF	chr3:163838918-163839002	K562	blood:	n/a	chr3:163838939-163838957
44	MAFF	chr3:163838836-163838997	HepG2	liver:	n/a	chr3:163838939-163838957
45	MAFK	chr3:163838787-163839034	HepG2	liver:	n/a	chr3:163838940-163838955
46	MAFK	chr3:163838846-163839006	HepG2	liver:	n/a	chr3:163838940-163838955
47	MAFK	chr3:163848960-163849231	HepG2	liver:	n/a	n/a
48	MAFK	chr3:163849025-163849180	HepG2	liver:	n/a	n/a
49	MAFK	chr3:163847161-163847397	HepG2	liver:	n/a	chr3:163847247-163847263 chr3:163847274-163847294 chr3:163847251-163847262 chr3:163847276-163847292 chr3:163847250-163847264
50	MAX	chr3:163873215-163873582	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:163831824..163833454-chr3:163836559..163838959,2	K562	blood:

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

Variant related genes	Relation type
MIR1263	TF binding region

Extended variants
information (count: 2679 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2679 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2122377	chr3:163835270-163835271	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368616366	chr3:163835304-163835305	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527714085	chr3:163835349-163835350	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76751663	chr3:163835362-163835363	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552130694	chr3:163835365-163835366	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143536342	chr3:163835388-163835389	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1449920	chr3:163835442-163835443	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531680856	chr3:163835496-163835497	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574529173	chr3:163835507-163835508	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1449921	chr3:163835511-163835512	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs77454717	chr3:163835541-163835542	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1449922	chr3:163835546-163835547	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1449923	chr3:163835591-163835592	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs191474428	chr3:163835593-163835594	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565278962	chr3:163835756-163835757	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566512097	chr3:163835765-163835766	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527729670	chr3:163835821-163835822	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150991268	chr3:163835870-163835871	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567777182	chr3:163835890-163835891	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565960219	chr3:163835895-163835896	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536369795	chr3:163835915-163835916	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550315010	chr3:163835999-163836000	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570164961	chr3:163836079-163836080	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56322923	chr3:163836108-163836109	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558868589	chr3:163836124-163836125	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184269240	chr3:163836130-163836131	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10155028	chr3:163836131-163836132	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371289330	chr3:163836153-163836154	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397778515	chr3:163836164-163836165	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575793186	chr3:163836168-163836169	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576068527	chr3:163836173-163836174	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544665035	chr3:163836214-163836215	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114629170	chr3:163836229-163836230	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543165976	chr3:163836280-163836281	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563453787	chr3:163836311-163836312	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577159502	chr3:163836336-163836337	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546113250	chr3:163836353-163836354	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559721091	chr3:163836357-163836358	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200159709	chr3:163836409-163836410	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148463977	chr3:163836425-163836426	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55986997	chr3:163836426-163836427	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7427031	chr3:163836427-163836428	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs116492424	chr3:163836462-163836463	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34989619	chr3:163836476-163836477	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1375832	chr3:163836487-163836488	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188028848	chr3:163836529-163836530	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530169550	chr3:163836571-163836572	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1375833	chr3:163836581-163836582	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540537466	chr3:163836588-163836589	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368365993	chr3:163836601-163836602	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163833000-163837800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163837800-163839200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:163839200-163852000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:163841400-163841800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:163841400-163841800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:163841400-163841800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:163841800-163842200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:163848600-163849800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:163852000-163854600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:163854600-163862000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:163860000-163861400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:163862000-163870200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:163863200-163866400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr3:163865800-163867600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr3:163868200-163870200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:163870200-163874600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:163873400-163873800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr3:163874600-163879600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:163875800-163876200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:163879600-163898800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:163881400-163881600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:163883600-163885200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:163885200-163886000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:163886000-163886200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:163890800-163892800	Enhancers	Dnd41	blood
26	chr3:163892600-163892800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:163896800-163897400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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