Variant report

Variant	nsv1006181
Chromosome Location	chr3:163870058-163913537
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	chr3:163912779-163913052	HepG2	liver:	n/a	n/a
4	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
5	CEBPB	chr3:163912738-163913096	MCF-7	breast:	n/a	n/a
6	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
7	CEBPB	chr3:163890801-163890962	H1-hESC	embryonic stem cell:	n/a	chr3:163890911-163890922
8	CEBPB	chr3:163912780-163912994	A549	lung:	n/a	n/a
9	CTCF	chr3:163881140-163881290	MCF-7	breast:	n/a	n/a
10	CTCF	chr3:163912752-163912920	MCF-7	breast:	n/a	n/a
11	CTCF	chr3:163912765-163912878	GM13977	blood:	n/a	n/a
12	CTCF	chr3:163912755-163912907	GM12878	blood:	n/a	n/a
13	CTCF	chr3:163912740-163912890	RPTEC	kidney:	n/a	n/a
14	CTCF	chr3:163912660-163912810	HL-60	blood:	n/a	n/a
15	CTCF	chr3:163912772-163912897	MCF-7	breast:	n/a	n/a
16	CTCF	chr3:163880640-163880685	MCF-7	breast:	n/a	n/a
17	CTCF	chr3:163912760-163912910	Caco-2	colon:	n/a	n/a
18	CTCF	chr3:163912820-163912970	HepG2	liver:	n/a	n/a
19	CTCF	chr3:163912680-163912830	HepG2	liver:	n/a	n/a
20	CTCF	chr3:163912740-163912890	NB4	blood:	n/a	n/a
21	CTCF	chr3:163904020-163904170	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr3:163912840-163912990	BE2_C	brain:	n/a	n/a
23	CTCF	chr3:163880586-163880705	MCF-7	breast:	n/a	n/a
24	CTCF	chr3:163912720-163912870	MCF-7	breast:	n/a	n/a
25	CTCF	chr3:163904025-163904117	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr3:163880629-163880686	MCF-7	breast:	n/a	n/a
27	CTCF	chr3:163912760-163912910	GM12866	blood:	n/a	n/a
28	CTCF	chr3:163912752-163912901	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr3:163912596-163913112	MCF-7	breast:	n/a	n/a
30	CTCF	chr3:163912620-163912770	MCF-7	breast:	n/a	n/a
31	CTCF	chr3:163904007-163904194	GM12878	blood:	n/a	n/a
32	CTCF	chr3:163912707-163912920	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr3:163912767-163912864	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chr3:163878567-163878614	LNCaP	prostate:	n/a	n/a
35	CTCF	chr3:163912760-163912910	HEK293	kidney:	n/a	n/a
36	CTCF	chr3:163912940-163913090	RPTEC	kidney:	n/a	n/a
37	CTCF	chr3:163912789-163912895	HepG2	liver:	n/a	n/a
38	CTCF	chr3:163903942-163904236	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr3:163912800-163912950	HRE	kidney:	n/a	n/a
40	CTCF	chr3:163912760-163912910	HCT-116	colon:	n/a	n/a
41	CTCF	chr3:163880560-163880710	Caco-2	colon:	n/a	n/a
42	CTCF	chr3:163888600-163888750	MCF-7	breast:	n/a	n/a
43	CTCF	chr3:163912720-163912870	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr3:163912680-163912830	HCT-116	colon:	n/a	n/a
45	CTCF	chr3:163912700-163912850	GM12878	blood:	n/a	n/a
46	CTCF	chr3:163912827-163912870	GM10266	blood:	n/a	n/a
47	CTCF	chr3:163912772-163912867	LNCaP	prostate:	n/a	n/a
48	CTCF	chr3:163880560-163880710	MCF-7	breast:	n/a	n/a
49	CTCF	chr3:163912720-163912870	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr3:163912802-163912803	Medullo	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:57914661..57917089-chr3:163901184..163903192,2	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: 1872 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1872 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76348662	chr3:163870061-163870062	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs571579329	chr3:163870106-163870107	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs534221365	chr3:163870143-163870144	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs79684103	chr3:163870166-163870167	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs567431267	chr3:163870199-163870200	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs540505237	chr3:163870204-163870205	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138626189	chr3:163870222-163870223	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556389927	chr3:163870247-163870248	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576668322	chr3:163870265-163870266	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182071671	chr3:163870296-163870297	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546962998	chr3:163870324-163870325	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558505262	chr3:163870351-163870352	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368612212	chr3:163870374-163870375	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575795972	chr3:163870375-163870376	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571582260	chr3:163870414-163870415	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372258496	chr3:163870415-163870416	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541035002	chr3:163870435-163870436	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149329446	chr3:163870461-163870462	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143230365	chr3:163870477-163870478	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543633215	chr3:163870480-163870481	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563507997	chr3:163870493-163870494	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188040873	chr3:163870616-163870617	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10936408	chr3:163870667-163870668	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192855774	chr3:163870677-163870678	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527647673	chr3:163870781-163870782	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557145154	chr3:163870782-163870783	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146460641	chr3:163870832-163870833	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538425504	chr3:163870861-163870862	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148309755	chr3:163870872-163870873	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11709197	chr3:163870923-163870924	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536391233	chr3:163870930-163870931	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143107307	chr3:163870976-163870977	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570185344	chr3:163870980-163870981	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184652691	chr3:163871045-163871046	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558943024	chr3:163871080-163871081	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572700486	chr3:163871088-163871089	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534595138	chr3:163871097-163871098	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554645569	chr3:163871130-163871131	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190366285	chr3:163871132-163871133	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543570369	chr3:163871140-163871141	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563417039	chr3:163871142-163871143	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536021193	chr3:163871155-163871156	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576929955	chr3:163871163-163871164	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545989585	chr3:163871164-163871165	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12107021	chr3:163871169-163871170	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528433546	chr3:163871178-163871179	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372004983	chr3:163871179-163871180	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1161754	chr3:163871197-163871198	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375133265	chr3:163871222-163871223	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13078359	chr3:163871243-163871244	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:21 , 50 per page) page: 1

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	chr3:163868200-163870200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:163870200-163874600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:163873400-163873800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:163874600-163879600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:163875800-163876200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:163879600-163898800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:163881400-163881600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:163883600-163885200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:163885200-163886000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:163886000-163886200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:163890800-163892800	Enhancers	Dnd41	blood
13	chr3:163892600-163892800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:163896800-163897400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:163898800-163904200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:163904200-163912800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:163911000-163911600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:163912400-163912800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:163912800-163913000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:163912800-163918400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:163913000-163914000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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