Variant report

Variant	nsv1022774
Chromosome Location	chr6:68285022-68400534
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	CBX3	chr6:68384145-68384361	K562	blood:	n/a	n/a
2	CBX3	chr6:68344107-68344496	K562	blood:	n/a	n/a
3	CBX3	chr6:68332204-68332430	K562	blood:	n/a	n/a
4	CBX3	chr6:68332154-68332575	K562	blood:	n/a	n/a
5	CEBPB	chr6:68377739-68377882	K562	blood:	n/a	chr6:68377739-68377747
6	CEBPB	chr6:68393903-68394333	IMR90	lung:	n/a	n/a
7	CEBPB	chr6:68339191-68339465	K562	blood:	n/a	n/a
8	CEBPB	chr6:68394017-68394325	K562	blood:	n/a	n/a
9	CEBPB	chr6:68352610-68352810	A549	lung:	n/a	n/a
10	CEBPB	chr6:68339215-68339484	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr6:68339210-68339369	K562	blood:	n/a	n/a
12	CEBPD	chr6:68363503-68363892	K562	blood:	n/a	n/a
13	CTCF	chr6:68380868-68380905	GM10248	blood:	n/a	n/a
14	CTCF	chr6:68371560-68371710	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr6:68393971-68394022	HepG2	liver:	n/a	n/a
16	CTCF	chr6:68339040-68339190	GM12869	blood:	n/a	n/a
17	E2F4	chr6:68377555-68377755	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr6:68342486-68342709	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr6:68381418-68381611	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr6:68393935-68394261	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr6:68337434-68337780	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr6:68298975-68299281	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr6:68300160-68300164	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F6	chr6:68307375-68307545	K562	blood:	n/a	n/a
25	ELF1	chr6:68373067-68373369	GM12878	blood:	n/a	n/a
26	EP300	chr6:68377482-68377834	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr6:68376072-68376351	SK-N-SH_RA	brain:	n/a	n/a
28	EP300	chr6:68389297-68389923	MCF-7	breast:	n/a	n/a
29	EP300	chr6:68377308-68378455	SK-N-SH	brain:	n/a	chr6:68377946-68377960
30	EP300	chr6:68377930-68378284	SK-N-SH_RA	brain:	n/a	chr6:68377946-68377960
31	EP300	chr6:68389380-68389824	T-47D	breast:	n/a	n/a
32	EP300	chr6:68377958-68378177	SK-N-SH_RA	brain:	n/a	n/a
33	EP300	chr6:68376057-68376362	SK-N-SH_RA	brain:	n/a	n/a
34	EP300	chr6:68376515-68376834	SK-N-SH_RA	brain:	n/a	n/a
35	EP300	chr6:68317208-68317869	SK-N-SH_RA	brain:	n/a	n/a
36	EP300	chr6:68317272-68317743	SK-N-SH_RA	brain:	n/a	n/a
37	EP300	chr6:68376517-68376801	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr6:68377556-68377825	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr6:68339211-68339666	SK-N-SH_RA	brain:	n/a	n/a
40	EP300	chr6:68338352-68339856	SK-N-SH	brain:	n/a	chr6:68339107-68339121
41	EP300	chr6:68389404-68389669	T-47D	breast:	n/a	n/a
42	EP300	chr6:68316347-68318681	SK-N-SH	brain:	n/a	chr6:68317136-68317150 chr6:68318323-68318337 chr6:68316927-68316937
43	EP300	chr6:68316853-68317150	SK-N-SH_RA	brain:	n/a	chr6:68317136-68317150 chr6:68316927-68316937
44	EP300	chr6:68389262-68390075	MCF-7	breast:	n/a	n/a
45	EP300	chr6:68375732-68377007	SK-N-SH	brain:	n/a	n/a
46	ESR1	chr6:68389328-68389701	T-47D	breast:	n/a	n/a
47	ESR1	chr6:68389393-68389758	T-47D	breast:	n/a	n/a
48	ESR1	chr6:68389349-68389927	T-47D	breast:	n/a	n/a
49	FAM48A	chr6:68300365-68300475	GM12878	blood:	n/a	n/a
50	FOS	chr6:68350362-68350708	MCF10A-Er-Src	breast:	n/a	chr6:68350538-68350547 chr6:68350539-68350547 chr6:68350540-68350551 chr6:68350529-68350538 chr6:68350539-68350546 chr6:68350539-68350548 chr6:68350537-68350548

No.	Distal block	Cell Line	Cell type
1	chr6:68384869..68387346-chr6:68589720..68591224,2	K562	blood:
2	chr6:68344247..68347231-chr6:68348042..68351033,2	K562	blood:
3	chr6:68307817..68309622-chr6:68313162..68315036,2	K562	blood:
4	chr6:68307817..68309622-chr6:68313162..68315036,2	K562	blood:
5	chr6:68303209..68306059-chr6:68307817..68309668,2	K562	blood:
6	chr6:68303209..68306059-chr6:68307817..68309668,2	K562	blood:
7	chr6:68292892..68295431-chr6:68738448..68740413,2	K562	blood:
8	chr6:68357683..68359642-chr6:68370181..68373049,2	MCF-7	breast:
9	chr6:68361466..68364465-chr6:68587796..68590691,2	K562	blood:
10	chr6:68349476..68351287-chr6:68384246..68386682,2	K562	blood:
11	chr6:68311734..68314302-chr6:68583935..68586240,2	K562	blood:
12	chr6:68349476..68351287-chr6:68384246..68386682,2	K562	blood:
13	chr6:68313957..68316752-chr6:68317166..68320588,3	K562	blood:
14	chr6:68313957..68316752-chr6:68317166..68320588,3	K562	blood:
15	chr6:68371549..68373538-chr6:68376260..68378191,3	K562	blood:
16	chr6:68344247..68347231-chr6:68348042..68351033,2	K562	blood:
17	chr6:68371549..68373538-chr6:68376260..68378191,3	K562	blood:
18	chr6:68357683..68359642-chr6:68370181..68373049,2	MCF-7	breast:
19	chr6:68310865..68312507-chr6:68587249..68589737,2	K562	blood:

Variant related genes	Relation type
ENSG00000206672	TF binding region

Extended variants
information (count: 1415 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1415 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564775240	chr6:68285043-68285044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533622661	chr6:68285060-68285061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547228394	chr6:68285072-68285073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560638218	chr6:68285075-68285076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529394106	chr6:68285083-68285084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13220356	chr6:68285094-68285095	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs534430700	chr6:68285110-68285111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569196180	chr6:68285116-68285117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554862761	chr6:68312208-68312209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544780874	chr6:68312252-68312253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572643229	chr6:68312399-68312400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs988020	chr6:68312507-68312508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189678974	chr6:68312696-68312697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574396935	chr6:68312728-68312729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144393323	chr6:68312740-68312741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183305828	chr6:68312747-68312748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2747155	chr6:68312767-68312768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12055646	chr6:68312778-68312779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546015868	chr6:68312797-68312798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187794542	chr6:68312804-68312805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115197328	chr6:68312819-68312820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528358390	chr6:68312832-68312833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560275184	chr6:68312868-68312869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148366277	chr6:68312886-68312887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530120058	chr6:68312887-68312888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141530094	chr6:68312951-68312952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115239759	chr6:68312978-68312979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532512024	chr6:68312994-68312995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150870315	chr6:68313019-68313020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80265202	chr6:68313024-68313025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534979869	chr6:68313048-68313049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555260482	chr6:68313093-68313094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567923035	chr6:68313101-68313102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372039864	chr6:68313154-68313155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557042523	chr6:68313160-68313161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577001423	chr6:68313170-68313171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540567759	chr6:68313188-68313189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552868266	chr6:68313248-68313249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375297355	chr6:68313252-68313253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573013886	chr6:68313258-68313259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191962758	chr6:68313273-68313274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183295371	chr6:68313289-68313290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562023566	chr6:68313291-68313292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552981790	chr6:68313318-68313319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113347014	chr6:68313321-68313322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530764236	chr6:68313330-68313331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543405311	chr6:68313379-68313380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188590181	chr6:68313388-68313389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532449586	chr6:68313405-68313406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371688192	chr6:68313406-68313407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68284800-68285200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:68312200-68313000	Enhancers	Fetal Lung	lung
3	chr6:68313000-68317200	Weak transcription	Fetal Lung	lung
4	chr6:68313400-68313600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr6:68313600-68316400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:68314600-68315000	Enhancers	Liver	Liver
7	chr6:68315000-68316400	Weak transcription	Liver	Liver
8	chr6:68316400-68317600	Enhancers	HUVEC	blood vessel
9	chr6:68316400-68318400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr6:68316400-68318600	Enhancers	Liver	Liver
11	chr6:68316800-68317600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:68317200-68318600	Enhancers	Fetal Lung	lung
13	chr6:68331200-68333600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:68331800-68332800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:68338200-68339400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:68338400-68340000	Enhancers	HUVEC	blood vessel
17	chr6:68338600-68340600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:68338800-68339800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:68338800-68340400	Enhancers	Fetal Lung	lung
20	chr6:68338800-68341000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:68339000-68339600	Enhancers	NH-A	brain
22	chr6:68339000-68340600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:68339200-68340000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:68339400-68340000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:68339400-68340800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:68339600-68340200	Flanking Active TSS	NH-A	brain
27	chr6:68339800-68340200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:68339800-68340800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr6:68340000-68340200	Active TSS	NHDF-Ad	bronchial
30	chr6:68340000-68340400	Flanking Active TSS	HUVEC	blood vessel
31	chr6:68340000-68340600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:68340000-68341400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:68340200-68340400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:68340200-68340400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:68340200-68340400	Flanking Active TSS	NHDF-Ad	bronchial
36	chr6:68340200-68340600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:68340200-68340800	Enhancers	NH-A	brain
38	chr6:68340400-68340800	Enhancers	NHDF-Ad	bronchial
39	chr6:68340400-68341000	Enhancers	HUVEC	blood vessel
40	chr6:68340400-68344000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:68340600-68344000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:68341000-68341400	Weak transcription	HUVEC	blood vessel
43	chr6:68341400-68341600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:68341400-68342000	ZNF genes & repeats	HUVEC	blood vessel
45	chr6:68344000-68344200	ZNF genes & repeats	Aorta	Aorta
46	chr6:68344000-68344400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:68344000-68344600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:68344600-68344800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:68344800-68346200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:68350000-68351200	Enhancers	HUVEC	blood vessel

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