Variant report

Variant	nsv1012561
Chromosome Location	chr3:21095169-21241656
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	ATF1	chr3:21174936-21175053	K562	blood:	n/a	n/a
2	BACH1	chr3:21190793-21191040	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr3:21194072-21194305	GM12878	blood:	n/a	n/a
4	BATF	chr3:21194098-21194329	GM12878	blood:	n/a	n/a
5	BATF	chr3:21201055-21201284	GM12878	blood:	n/a	chr3:21201159-21201170
6	BHLHE40	chr3:21159378-21159417	K562	blood:	n/a	n/a
7	CCNT2	chr3:21119156-21119258	K562	blood:	n/a	n/a
8	CEBPB	chr3:21183893-21184180	IMR90	lung:	n/a	chr3:21184052-21184063 chr3:21184051-21184064
9	CEBPB	chr3:21226907-21227191	IMR90	lung:	n/a	n/a
10	CEBPB	chr3:21183980-21184119	A549	lung:	n/a	chr3:21184052-21184063 chr3:21184051-21184064
11	CEBPB	chr3:21226898-21227212	HepG2	liver:	n/a	n/a
12	CEBPB	chr3:21238940-21239196	IMR90	lung:	n/a	chr3:21239061-21239072
13	CEBPB	chr3:21238993-21239167	K562	blood:	n/a	chr3:21239061-21239072
14	CEBPB	chr3:21125984-21126294	HepG2	liver:	n/a	chr3:21126144-21126155
15	CEBPB	chr3:21218651-21218851	HepG2	liver:	n/a	chr3:21218750-21218761
16	CEBPB	chr3:21226911-21227207	K562	blood:	n/a	n/a
17	CEBPB	chr3:21126029-21126290	K562	blood:	n/a	chr3:21126144-21126155
18	CEBPB	chr3:21238940-21239212	HepG2	liver:	n/a	chr3:21239061-21239072
19	CEBPB	chr3:21183929-21184180	HepG2	liver:	n/a	chr3:21184052-21184063 chr3:21184051-21184064
20	CEBPB	chr3:21164426-21164631	HepG2	liver:	n/a	chr3:21164567-21164578 chr3:21164606-21164617
21	CEBPB	chr3:21125988-21126321	IMR90	lung:	n/a	chr3:21126144-21126155
22	CEBPB	chr3:21226940-21227188	A549	lung:	n/a	n/a
23	CEBPB	chr3:21108530-21108777	A549	lung:	n/a	n/a
24	CEBPB	chr3:21164447-21164713	A549	lung:	n/a	chr3:21164567-21164578 chr3:21164606-21164617
25	CEBPB	chr3:21183910-21184219	K562	blood:	n/a	chr3:21184052-21184063 chr3:21184051-21184064
26	CEBPB	chr3:21126025-21126248	A549	lung:	n/a	chr3:21126144-21126155
27	CEBPB	chr3:21183926-21184131	K562	blood:	n/a	chr3:21184052-21184063 chr3:21184051-21184064
28	CHD1	chr3:21187707-21187761	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr3:21194221-21194308	GM12878	blood:	n/a	n/a
30	CTCF	chr3:21212580-21212730	GM12873	blood:	n/a	n/a
31	CTCF	chr3:21212542-21212765	K562	blood:	n/a	n/a
32	CTCF	chr3:21136400-21136550	GM12869	blood:	n/a	n/a
33	CTCF	chr3:21212600-21212750	HCM	heart:	n/a	n/a
34	CTCF	chr3:21212580-21212730	GM12871	blood:	n/a	n/a
35	CTCF	chr3:21212640-21212790	NHEK	skin:	n/a	n/a
36	CTCF	chr3:21212640-21212790	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr3:21212577-21212732	LNCaP	prostate:	n/a	n/a
38	CTCF	chr3:21212580-21212730	HPF	lung:	n/a	n/a
39	CTCF	chr3:21212540-21212690	GM12874	blood:	n/a	n/a
40	CTCF	chr3:21212560-21212710	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr3:21212580-21212730	SAEC	small airway:	n/a	n/a
42	CTCF	chr3:21212620-21212770	NHLF	lung:	n/a	n/a
43	CTCF	chr3:21212475-21212829	K562	blood:	n/a	n/a
44	CTCF	chr3:21212600-21212750	GM12864	blood:	n/a	n/a
45	CTCF	chr3:21159139-21159361	GM12878	blood:	n/a	n/a
46	CTCF	chr3:21212560-21212710	Caco-2	colon:	n/a	n/a
47	CTCF	chr3:21212573-21212746	Fibrobl	skin:	n/a	n/a
48	CTCF	chr3:21212600-21212750	HAc	cerebellar:	n/a	n/a
49	CTCF	chr3:21212580-21212730	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr3:21212600-21212750	GM12867	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:21100031..21101592-chr3:21111513..21113234,2	K562	blood:
2	chr3:21207903..21212103-chr3:21235234..21238537,4	K562	blood:
3	chr3:21205402..21208322-chr3:21209638..21211827,2	K562	blood:
4	chr3:21175037..21177371-chr3:21182384..21184259,2	K562	blood:
5	chr3:21100031..21101592-chr3:21111513..21113234,2	K562	blood:
6	chr3:21194222..21197075-chr3:21200094..21202897,2	K562	blood:
7	chr3:21049220..21051443-chr3:21113228..21114946,2	K562	blood:
8	chr3:21175037..21177371-chr3:21182384..21184259,2	K562	blood:
9	chr3:21188799..21190342-chr3:21193601..21195363,2	K562	blood:
10	chr3:21097762..21100655-chr3:21104242..21105984,2	MCF-7	breast:
11	chr3:21188799..21190342-chr3:21193601..21195363,2	K562	blood:
12	chr3:21207950..21210850-chr3:21212178..21213928,2	K562	blood:
13	chr3:21132848..21134885-chr3:21136213..21138179,2	K562	blood:
14	chr3:21194222..21197075-chr3:21200094..21202897,2	K562	blood:
15	chr3:21207950..21210850-chr3:21212178..21213928,2	K562	blood:
16	chr3:21097762..21100655-chr3:21104242..21105984,2	MCF-7	breast:
17	chr3:21207903..21212103-chr3:21235234..21238537,4	K562	blood:
18	chr3:21205402..21208322-chr3:21209638..21211827,2	K562	blood:
19	chr3:21132848..21134885-chr3:21136213..21138179,2	K562	blood:

Variant related genes	Relation type
ENSG00000221659	TF binding region

Extended variants
information (count: 2356 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2356 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7629155	chr3:21095169-21095170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138230101	chr3:21095205-21095206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189866775	chr3:21095243-21095244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149601894	chr3:21095260-21095261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144341890	chr3:21095270-21095271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572701458	chr3:21095273-21095274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540228339	chr3:21095318-21095319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527419611	chr3:21095320-21095321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561808705	chr3:21095325-21095326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148361712	chr3:21095329-21095330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544850652	chr3:21095354-21095355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59354177	chr3:21095358-21095359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182535060	chr3:21095367-21095368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551748465	chr3:21095421-21095422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560544242	chr3:21095433-21095434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187240001	chr3:21095439-21095440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561345636	chr3:21095440-21095441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548948571	chr3:21095455-21095456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs193059039	chr3:21095456-21095457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537920100	chr3:21095472-21095473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550374425	chr3:21095500-21095501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568916636	chr3:21095515-21095516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1497515	chr3:21095524-21095525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557811812	chr3:21095555-21095556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113863572	chr3:21095566-21095567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573085256	chr3:21095625-21095626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146401611	chr3:21095679-21095680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373723576	chr3:21095683-21095684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113437699	chr3:21095717-21095718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555383661	chr3:21095722-21095723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183556441	chr3:21095735-21095736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544290568	chr3:21095746-21095747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78912350	chr3:21095751-21095752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563107941	chr3:21095793-21095794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78012313	chr3:21095807-21095808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188994241	chr3:21095821-21095822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550210411	chr3:21095879-21095880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112425160	chr3:21095919-21095920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139804978	chr3:21095936-21095937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546858679	chr3:21095942-21095943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7620710	chr3:21095956-21095957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs143186742	chr3:21095982-21095983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531698495	chr3:21096095-21096096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544371627	chr3:21096111-21096112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571709716	chr3:21096174-21096175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539293647	chr3:21096192-21096193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551540091	chr3:21096198-21096199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373414673	chr3:21096211-21096212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115533199	chr3:21096260-21096261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77380038	chr3:21096261-21096262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21086800-21108800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:21092000-21100600	Weak transcription	Fetal Lung	lung
3	chr3:21095400-21095800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:21096200-21097000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:21096400-21096600	Weak transcription	Aorta	Aorta
6	chr3:21096400-21097000	Enhancers	NHDF-Ad	bronchial
7	chr3:21096600-21096800	ZNF genes & repeats	Aorta	Aorta
8	chr3:21096800-21100800	Weak transcription	Aorta	Aorta
9	chr3:21097000-21100800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:21097000-21101000	Weak transcription	NHDF-Ad	bronchial
11	chr3:21100400-21100600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:21100600-21101200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:21100600-21101600	Enhancers	Fetal Lung	lung
14	chr3:21100600-21101600	Enhancers	Fetal Stomach	stomach
15	chr3:21100800-21101400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:21100800-21101400	Enhancers	Aorta	Aorta
17	chr3:21101000-21101400	Enhancers	Stomach Smooth Muscle	stomach
18	chr3:21101000-21101400	Enhancers	NHDF-Ad	bronchial
19	chr3:21101200-21101600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:21101400-21104600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:21101400-21106800	Weak transcription	Aorta	Aorta
22	chr3:21101600-21104000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:21101600-21104000	Weak transcription	Fetal Lung	lung
24	chr3:21101600-21104000	Weak transcription	Fetal Stomach	stomach
25	chr3:21103800-21104800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr3:21104000-21104600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:21104000-21104600	Enhancers	Fetal Lung	lung
28	chr3:21104000-21105200	Enhancers	Fetal Stomach	stomach
29	chr3:21104600-21104800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:21104600-21105200	Enhancers	Fetal Muscle Leg	muscle
31	chr3:21104600-21108600	Weak transcription	Fetal Lung	lung
32	chr3:21105200-21106000	Weak transcription	Fetal Stomach	stomach
33	chr3:21106000-21106200	Enhancers	Fetal Stomach	stomach
34	chr3:21106800-21107000	Enhancers	Fetal Muscle Leg	muscle
35	chr3:21108600-21109000	Enhancers	Fetal Kidney	kidney
36	chr3:21108600-21109200	Enhancers	Fetal Lung	lung
37	chr3:21126800-21128600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:21128600-21131000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:21132600-21132800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:21132800-21139600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:21145200-21146200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:21147400-21148000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:21147400-21148000	Enhancers	Gastric	stomach
44	chr3:21150200-21151000	Enhancers	Brain Germinal Matrix	brain
45	chr3:21159000-21159200	ZNF genes & repeats	Lung	lung
46	chr3:21159200-21159400	Enhancers	Lung	lung
47	chr3:21171400-21171800	ZNF genes & repeats	Psoas Muscle	Psoas
48	chr3:21180000-21184600	Weak transcription	Pancreas	Pancrea
49	chr3:21181600-21182800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr3:21181800-21182800	Enhancers	HUES6 Cell Line	embryonic stem cell

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