Variant report

Variant	nsv1020644
Chromosome Location	chr6:68233497-68446215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:468)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr6:68268936-68269129	K562	blood:	n/a	n/a
2	ATF3	chr6:68270050-68270268	K562	blood:	n/a	n/a
3	BHLHE40	chr6:68269989-68270319	K562	blood:	n/a	n/a
4	CBX3	chr6:68332154-68332575	K562	blood:	n/a	n/a
5	CBX3	chr6:68332204-68332430	K562	blood:	n/a	n/a
6	CBX3	chr6:68344107-68344496	K562	blood:	n/a	n/a
7	CBX3	chr6:68384145-68384361	K562	blood:	n/a	n/a
8	CEBPB	chr6:68352610-68352810	A549	lung:	n/a	n/a
9	CEBPB	chr6:68339210-68339369	K562	blood:	n/a	n/a
10	CEBPB	chr6:68270047-68270243	K562	blood:	n/a	n/a
11	CEBPB	chr6:68252417-68252737	IMR90	lung:	n/a	chr6:68252565-68252576
12	CEBPB	chr6:68410727-68410916	A549	lung:	n/a	chr6:68410857-68410868
13	CEBPB	chr6:68393903-68394333	IMR90	lung:	n/a	n/a
14	CEBPB	chr6:68394017-68394325	K562	blood:	n/a	n/a
15	CEBPB	chr6:68252469-68252626	H1-hESC	embryonic stem cell:	n/a	chr6:68252565-68252576
16	CEBPB	chr6:68377739-68377882	K562	blood:	n/a	chr6:68377739-68377747
17	CEBPB	chr6:68252543-68252704	K562	blood:	n/a	chr6:68252565-68252576
18	CEBPB	chr6:68277758-68278045	K562	blood:	n/a	n/a
19	CEBPB	chr6:68251426-68251964	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr6:68339215-68339484	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr6:68252483-68252740	HepG2	liver:	n/a	chr6:68252565-68252576
22	CEBPB	chr6:68339191-68339465	K562	blood:	n/a	n/a
23	CEBPD	chr6:68363503-68363892	K562	blood:	n/a	n/a
24	CHD2	chr6:68270056-68270205	K562	blood:	n/a	n/a
25	CTCF	chr6:68247280-68247430	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr6:68403964-68404392	MCF-7	breast:	n/a	n/a
27	CTCF	chr6:68404160-68404310	BE2_C	brain:	n/a	n/a
28	CTCF	chr6:68404100-68404293	HepG2	liver:	n/a	n/a
29	CTCF	chr6:68404080-68404230	AG04449	skin:	n/a	n/a
30	CTCF	chr6:68404080-68404230	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr6:68247340-68247490	HEK293	kidney:	n/a	n/a
32	CTCF	chr6:68404110-68404249	ProgFib	skin:	n/a	n/a
33	CTCF	chr6:68404119-68404296	K562	blood:	n/a	n/a
34	CTCF	chr6:68404109-68404304	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr6:68404200-68404350	RPTEC	kidney:	n/a	n/a
36	CTCF	chr6:68243213-68243224	LNCaP	prostate:	n/a	n/a
37	CTCF	chr6:68404100-68404250	AG04449	skin:	n/a	n/a
38	CTCF	chr6:68404120-68404270	HMF	breast:	n/a	n/a
39	CTCF	chr6:68404123-68404293	HepG2	liver:	n/a	n/a
40	CTCF	chr6:68404121-68404255	MCF-7	breast:	n/a	n/a
41	CTCF	chr6:68339040-68339190	GM12869	blood:	n/a	n/a
42	CTCF	chr6:68404120-68404270	MCF-7	breast:	n/a	n/a
43	CTCF	chr6:68393971-68394022	HepG2	liver:	n/a	n/a
44	CTCF	chr6:68404100-68404250	HEK293	kidney:	n/a	n/a
45	CTCF	chr6:68404108-68404275	MCF-7	breast:	n/a	n/a
46	CTCF	chr6:68404120-68404270	BJ	skin:	n/a	n/a
47	CTCF	chr6:68404139-68404242	MCF-7	breast:	n/a	n/a
48	CTCF	chr6:68371560-68371710	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr6:68404140-68404290	HCFaa	heart:	n/a	n/a
50	CTCF	chr6:68404120-68404270	HBMEC	blood vessel:	n/a	n/a

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:82142712..82144212-chr6:68403629..68406116,2	K562	blood:
2	chr6:68313957..68316752-chr6:68317166..68320588,3	K562	blood:
3	chr6:68413174..68415186-chr6:68423979..68425964,2	K562	blood:
4	chr6:68292892..68295431-chr6:68738448..68740413,2	K562	blood:
5	chr6:68427555..68429805-chr6:68594951..68597288,2	K562	blood:
6	chr6:68307817..68309622-chr6:68313162..68315036,2	K562	blood:
7	chr6:68303209..68306059-chr6:68307817..68309668,2	K562	blood:
8	chr6:68310865..68312507-chr6:68587249..68589737,2	K562	blood:
9	chr6:68361466..68364465-chr6:68587796..68590691,2	K562	blood:
10	chr6:68344247..68347231-chr6:68348042..68351033,2	K562	blood:
11	chr6:68357683..68359642-chr6:68370181..68373049,2	MCF-7	breast:
12	chr6:68238430..68239410-chr8:111072142..111072850,2	MCF-7	breast:
13	chr6:68413174..68415186-chr6:68423979..68425964,2	K562	blood:
14	chr6:68371549..68373538-chr6:68376260..68378191,3	K562	blood:
15	chr6:68303209..68306059-chr6:68307817..68309668,2	K562	blood:
16	chr6:68384869..68387346-chr6:68589720..68591224,2	K562	blood:
17	chr6:68349476..68351287-chr6:68384246..68386682,2	K562	blood:
18	chr6:68313957..68316752-chr6:68317166..68320588,3	K562	blood:
19	chr6:68311734..68314302-chr6:68583935..68586240,2	K562	blood:
20	chr6:68403017..68405900-chr6:68588028..68590720,2	K562	blood:
21	chr6:68443772..68446590-chr6:68448877..68451685,2	K562	blood:
22	chr6:68344247..68347231-chr6:68348042..68351033,2	K562	blood:
23	chr6:68232238..68234249-chr6:68236363..68239045,2	K562	blood:
24	chr6:68403765..68404346-chr6:102923949..102924449,2	MCF-7	breast:
25	chr6:68307817..68309622-chr6:68313162..68315036,2	K562	blood:
26	chr6:68250130..68252164-chr6:68269615..68271748,2	MCF-7	breast:
27	chr6:68232238..68234249-chr6:68236363..68239045,2	K562	blood:
28	chr6:68349476..68351287-chr6:68384246..68386682,2	K562	blood:
29	chr6:68412434..68414327-chr6:68587582..68589254,2	K562	blood:
30	chr6:68250130..68252164-chr6:68269615..68271748,2	MCF-7	breast:
31	chr6:68371549..68373538-chr6:68376260..68378191,3	K562	blood:
32	chr6:68357683..68359642-chr6:68370181..68373049,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000206672	TF binding region
RNU6-280P	TF binding region

Extended variants
information (count: 2449 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2449 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538617447	chr6:68236200-68236201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs201552284	chr6:68236217-68236218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557744488	chr6:68236220-68236221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs111814463	chr6:68236228-68236229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs146973270	chr6:68236260-68236261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs138016960	chr6:68236262-68236263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs372817165	chr6:68236277-68236278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs573427248	chr6:68236280-68236281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs572256722	chr6:68236281-68236282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs187281233	chr6:68236311-68236312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs78373408	chr6:68236312-68236313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs190918521	chr6:68236318-68236319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs552521025	chr6:68236341-68236342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs544629607	chr6:68236379-68236380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs114922574	chr6:68236434-68236435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572616284	chr6:68236456-68236457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9346033	chr6:68236491-68236492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs113328087	chr6:68236492-68236493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180747948	chr6:68236494-68236495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112926728	chr6:68236495-68236496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373779776	chr6:68236522-68236523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532563707	chr6:68236649-68236650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76111932	chr6:68236684-68236685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143493124	chr6:68236699-68236700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529477243	chr6:68236716-68236717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541232193	chr6:68236764-68236765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533811190	chr6:68236765-68236766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559918646	chr6:68236778-68236779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547234862	chr6:68236809-68236810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185792318	chr6:68236816-68236817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536001439	chr6:68236860-68236861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190076707	chr6:68236861-68236862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145787786	chr6:68236889-68236890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72881493	chr6:68236905-68236906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551667619	chr6:68236907-68236908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562678402	chr6:68236917-68236918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558246950	chr6:68236948-68236949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373370724	chr6:68237002-68237003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572745682	chr6:68237067-68237068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531778111	chr6:68237101-68237102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541737775	chr6:68237102-68237103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535494523	chr6:68237113-68237114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545323726	chr6:68237137-68237138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575091220	chr6:68237138-68237139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544005131	chr6:68237139-68237140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138374973	chr6:68237143-68237144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530840928	chr6:68237159-68237160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182634416	chr6:68237273-68237274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546204361	chr6:68237288-68237289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187666453	chr6:68237293-68237294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68236200-68236400	ZNF genes & repeats	Pancreas	Pancrea
2	chr6:68236400-68238800	Weak transcription	Pancreas	Pancrea
3	chr6:68238800-68239000	ZNF genes & repeats	Pancreas	Pancrea
4	chr6:68238800-68239400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:68250400-68251200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:68251200-68252000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:68251800-68253000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:68252000-68252400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:68266200-68272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:68268600-68268800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:68268800-68269000	Enhancers	K562	blood
12	chr6:68269000-68270000	Weak transcription	K562	blood
13	chr6:68269400-68269600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:68270000-68270400	Flanking Active TSS	K562	blood
15	chr6:68270400-68274600	Weak transcription	K562	blood
16	chr6:68272800-68273000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:68273000-68273200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:68274600-68275000	Enhancers	K562	blood
19	chr6:68284800-68285200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:68312200-68313000	Enhancers	Fetal Lung	lung
21	chr6:68313000-68317200	Weak transcription	Fetal Lung	lung
22	chr6:68313400-68313600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr6:68313600-68316400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:68314600-68315000	Enhancers	Liver	Liver
25	chr6:68315000-68316400	Weak transcription	Liver	Liver
26	chr6:68316400-68317600	Enhancers	HUVEC	blood vessel
27	chr6:68316400-68318400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr6:68316400-68318600	Enhancers	Liver	Liver
29	chr6:68316800-68317600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:68317200-68318600	Enhancers	Fetal Lung	lung
31	chr6:68331200-68333600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:68331800-68332800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:68338200-68339400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:68338400-68340000	Enhancers	HUVEC	blood vessel
35	chr6:68338600-68340600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:68338800-68339800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:68338800-68340400	Enhancers	Fetal Lung	lung
38	chr6:68338800-68341000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr6:68339000-68339600	Enhancers	NH-A	brain
40	chr6:68339000-68340600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:68339200-68340000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:68339400-68340000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:68339400-68340800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:68339600-68340200	Flanking Active TSS	NH-A	brain
45	chr6:68339800-68340200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:68339800-68340800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr6:68340000-68340200	Active TSS	NHDF-Ad	bronchial
48	chr6:68340000-68340400	Flanking Active TSS	HUVEC	blood vessel
49	chr6:68340000-68340600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:68340000-68341400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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