Variant report

Variant	nsv877854
Chromosome Location	chr3:163864862-163934363
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	chr3:163890801-163890962	H1-hESC	embryonic stem cell:	n/a	chr3:163890911-163890922
3	CEBPB	chr3:163917764-163918192	MCF-7	breast:	n/a	n/a
4	CEBPB	chr3:163912738-163913096	MCF-7	breast:	n/a	n/a
5	CEBPB	chr3:163917743-163918240	MCF-7	breast:	n/a	n/a
6	CEBPB	chr3:163890818-163891012	HepG2	liver:	n/a	chr3:163890911-163890922
7	CEBPB	chr3:163912780-163912994	A549	lung:	n/a	n/a
8	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
9	CEBPB	chr3:163912779-163913052	HepG2	liver:	n/a	n/a
10	CEBPB	chr3:163925893-163926208	Hela-S3	cervix:	n/a	n/a
11	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
12	CEBPB	chr3:163917760-163918155	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr3:163866020-163866170	MCF-7	breast:	n/a	n/a
14	CTCF	chr3:163912789-163912895	HepG2	liver:	n/a	n/a
15	CTCF	chr3:163912680-163912830	HepG2	liver:	n/a	n/a
16	CTCF	chr3:163926875-163927003	MCF-7	breast:	n/a	n/a
17	CTCF	chr3:163926880-163927030	Caco-2	colon:	n/a	n/a
18	CTCF	chr3:163926920-163927070	MCF-7	breast:	n/a	n/a
19	CTCF	chr3:163926929-163927005	HepG2	liver:	n/a	n/a
20	CTCF	chr3:163926820-163926970	AG09319	gingival:	n/a	n/a
21	CTCF	chr3:163912720-163912870	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr3:163912767-163912864	Pancreas_OC	pancreas:	n/a	n/a
23	CTCF	chr3:163928474-163928597	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr3:163912740-163912890	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr3:163880629-163880686	MCF-7	breast:	n/a	n/a
26	CTCF	chr3:163912660-163912810	HL-60	blood:	n/a	n/a
27	CTCF	chr3:163912802-163912803	Medullo	brain:	n/a	n/a
28	CTCF	chr3:163926941-163926994	GM13977	blood:	n/a	n/a
29	CTCF	chr3:163912620-163912770	MCF-7	breast:	n/a	n/a
30	CTCF	chr3:163912720-163912870	MCF-7	breast:	n/a	n/a
31	CTCF	chr3:163926954-163927016	Medullo	brain:	n/a	n/a
32	CTCF	chr3:163912760-163912910	HCT-116	colon:	n/a	n/a
33	CTCF	chr3:163912940-163913090	RPTEC	kidney:	n/a	n/a
34	CTCF	chr3:163912740-163912890	RPTEC	kidney:	n/a	n/a
35	CTCF	chr3:163926820-163926970	Caco-2	colon:	n/a	n/a
36	CTCF	chr3:163922659-163922693	Lung_OC	lung:	n/a	n/a
37	CTCF	chr3:163912707-163912920	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr3:163904007-163904194	GM12878	blood:	n/a	n/a
39	CTCF	chr3:163904028-163904120	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr3:163912760-163912910	Caco-2	colon:	n/a	n/a
41	CTCF	chr3:163903942-163904236	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr3:163926860-163927010	MCF-7	breast:	n/a	n/a
43	CTCF	chr3:163912772-163912897	MCF-7	breast:	n/a	n/a
44	CTCF	chr3:163888360-163888510	MCF-7	breast:	n/a	n/a
45	CTCF	chr3:163912680-163912830	HCT-116	colon:	n/a	n/a
46	CTCF	chr3:163912800-163912950	HRE	kidney:	n/a	n/a
47	CTCF	chr3:163912820-163912970	HepG2	liver:	n/a	n/a
48	CTCF	chr3:163912755-163912907	GM12878	blood:	n/a	n/a
49	CTCF	chr3:163878567-163878614	LNCaP	prostate:	n/a	n/a
50	CTCF	chr3:163904020-163904170	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:163916797..163919508-chr3:163924219..163927520,3	MCF-7	breast:
2	chr10:36759743..36761957-chr3:163916939..163919179,2	K562	blood:
3	chr3:163919977..163922257-chr3:163923536..163925910,2	MCF-7	breast:
4	chr3:163919977..163922257-chr3:163923536..163925910,2	MCF-7	breast:
5	chr17:57914661..57917089-chr3:163901184..163903192,2	MCF-7	breast:
6	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: 2933 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2933 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11718123	chr3:163864862-163864863	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545328902	chr3:163864900-163864901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs374043478	chr3:163864905-163864906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs564518538	chr3:163864932-163864933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs377218892	chr3:163864943-163864944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs11710319	chr3:163865004-163865005	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560990195	chr3:163865024-163865025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs145495189	chr3:163865045-163865046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs545166208	chr3:163865112-163865113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs563480778	chr3:163865130-163865131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs549991654	chr3:163865161-163865162	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs569897443	chr3:163865163-163865164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs575072409	chr3:163865199-163865200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs192121439	chr3:163865305-163865306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs565848846	chr3:163865317-163865318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs534158076	chr3:163865347-163865348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs553885431	chr3:163865351-163865352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs180915463	chr3:163865385-163865386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs375349288	chr3:163865408-163865409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs575485193	chr3:163865409-163865410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs148855783	chr3:163865482-163865483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545220131	chr3:163865534-163865535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs565539212	chr3:163865539-163865540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs572651687	chr3:163865582-163865583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs373201433	chr3:163865589-163865590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs541017071	chr3:163865597-163865598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs185197801	chr3:163865633-163865634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs542469562	chr3:163865643-163865644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs529780143	chr3:163865717-163865718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs560270637	chr3:163865740-163865741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs61202160	chr3:163865763-163865764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs62280777	chr3:163865779-163865780	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs552407441	chr3:163865780-163865781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs528047791	chr3:163865803-163865804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs189753762	chr3:163865810-163865811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs377045107	chr3:163865832-163865833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs534659644	chr3:163865853-163865854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs182792836	chr3:163865856-163865857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs567590150	chr3:163865906-163865907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs546302585	chr3:163865912-163865913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs112653682	chr3:163865916-163865917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs556213495	chr3:163865917-163865918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs544673692	chr3:163865919-163865920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538799469	chr3:163865945-163865946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs112096729	chr3:163865953-163865954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs191761733	chr3:163865977-163865978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs541395120	chr3:163865981-163865982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs1376954	chr3:163865982-163865983	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574454941	chr3:163865993-163865994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs375926656	chr3:163866022-163866023	ZNF genes & repeats	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163862000-163870200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163863200-163866400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr3:163865800-163867600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr3:163868200-163870200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:163870200-163874600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:163873400-163873800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr3:163874600-163879600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:163875800-163876200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:163879600-163898800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:163881400-163881600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:163883600-163885200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:163885200-163886000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:163886000-163886200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:163890800-163892800	Enhancers	Dnd41	blood
15	chr3:163892600-163892800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:163896800-163897400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:163898800-163904200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:163904200-163912800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:163911000-163911600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:163912400-163912800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:163912800-163913000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:163912800-163918400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:163913000-163914000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:163914000-163914600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:163914600-163915800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:163915800-163916400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:163916400-163917200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:163917200-163918000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:163918000-163918600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:163918200-163918600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr3:163918400-163918600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:163918600-163919400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:163919400-163925600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:163925600-163926000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:163925600-163926600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:163925800-163927800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr3:163926200-163927400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:163926400-163926800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:163926600-163927400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr3:163926600-163927600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr3:163926600-163927600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr3:163926600-163927800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:163926800-163927200	Enhancers	Fetal Brain Male	brain
44	chr3:163926800-163927800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr3:163927800-163929200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:163929200-163931000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:163931000-163931400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:163931400-163932000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:163932000-163932600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:163932600-163933200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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