Variant report

Variant	nsv886113
Chromosome Location	chr6:68269956-68371974
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	ATF3	chr6:68270050-68270268	K562	blood:	n/a	n/a
2	BHLHE40	chr6:68269989-68270319	K562	blood:	n/a	n/a
3	CBX3	chr6:68344107-68344496	K562	blood:	n/a	n/a
4	CBX3	chr6:68332204-68332430	K562	blood:	n/a	n/a
5	CBX3	chr6:68332154-68332575	K562	blood:	n/a	n/a
6	CEBPB	chr6:68339191-68339465	K562	blood:	n/a	n/a
7	CEBPB	chr6:68277758-68278045	K562	blood:	n/a	n/a
8	CEBPB	chr6:68270047-68270243	K562	blood:	n/a	n/a
9	CEBPB	chr6:68352610-68352810	A549	lung:	n/a	n/a
10	CEBPB	chr6:68339210-68339369	K562	blood:	n/a	n/a
11	CEBPB	chr6:68339215-68339484	Hela-S3	cervix:	n/a	n/a
12	CEBPD	chr6:68363503-68363892	K562	blood:	n/a	n/a
13	CHD2	chr6:68270056-68270205	K562	blood:	n/a	n/a
14	CTCF	chr6:68274465-68274493	LNCaP	prostate:	n/a	n/a
15	CTCF	chr6:68371560-68371710	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr6:68339040-68339190	GM12869	blood:	n/a	n/a
17	E2F4	chr6:68300160-68300164	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr6:68298975-68299281	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr6:68337434-68337780	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr6:68342486-68342709	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr6:68279512-68279597	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F6	chr6:68307375-68307545	K562	blood:	n/a	n/a
23	EP300	chr6:68277885-68277912	K562	blood:	n/a	n/a
24	EP300	chr6:68339211-68339666	SK-N-SH_RA	brain:	n/a	n/a
25	EP300	chr6:68316347-68318681	SK-N-SH	brain:	n/a	chr6:68317136-68317150 chr6:68318323-68318337 chr6:68316927-68316937
26	EP300	chr6:68317208-68317869	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr6:68317272-68317743	SK-N-SH_RA	brain:	n/a	n/a
28	EP300	chr6:68316853-68317150	SK-N-SH_RA	brain:	n/a	chr6:68317136-68317150 chr6:68316927-68316937
29	EP300	chr6:68338352-68339856	SK-N-SH	brain:	n/a	chr6:68339107-68339121
30	FAM48A	chr6:68300365-68300475	GM12878	blood:	n/a	n/a
31	FOS	chr6:68350364-68350699	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
32	FOS	chr6:68339598-68340489	HUVEC	blood vessel:	n/a	chr6:68340104-68340115
33	FOS	chr6:68350331-68350772	HUVEC	blood vessel:	n/a	chr6:68350538-68350547 chr6:68350539-68350547 chr6:68350540-68350551 chr6:68350529-68350538 chr6:68350539-68350546 chr6:68350539-68350548 chr6:68350537-68350548
34	FOS	chr6:68325715-68326075	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr6:68339275-68339299	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr6:68339973-68340440	MCF10A-Er-Src	breast:	n/a	chr6:68340104-68340115
37	FOS	chr6:68325783-68326007	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr6:68308682-68308804	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr6:68350369-68350699	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
40	FOS	chr6:68340040-68340403	MCF10A-Er-Src	breast:	n/a	chr6:68340104-68340115
41	FOS	chr6:68325758-68325993	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr6:68350350-68350714	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
43	FOS	chr6:68339812-68340428	MCF10A-Er-Src	breast:	n/a	chr6:68340104-68340115
44	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
45	FOS	chr6:68340003-68340409	MCF10A-Er-Src	breast:	n/a	chr6:68340104-68340115
46	FOS	chr6:68339543-68339607	MCF10A-Er-Src	breast:	n/a	n/a
47	GATA2	chr6:68339095-68339663	SH-SY5Y	brain:	n/a	n/a
48	GATA2	chr6:68339820-68340482	HUVEC	blood vessel:	n/a	n/a
49	GATA2	chr6:68363452-68363780	K562	blood:	n/a	n/a
50	GATA2	chr6:68317017-68318265	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:68303209..68306059-chr6:68307817..68309668,2	K562	blood:
2	chr6:68292892..68295431-chr6:68738448..68740413,2	K562	blood:
3	chr6:68313957..68316752-chr6:68317166..68320588,3	K562	blood:
4	chr6:68371549..68373538-chr6:68376260..68378191,3	K562	blood:
5	chr6:68250130..68252164-chr6:68269615..68271748,2	MCF-7	breast:
6	chr6:68313957..68316752-chr6:68317166..68320588,3	K562	blood:
7	chr6:68344247..68347231-chr6:68348042..68351033,2	K562	blood:
8	chr6:68311734..68314302-chr6:68583935..68586240,2	K562	blood:
9	chr6:68310865..68312507-chr6:68587249..68589737,2	K562	blood:
10	chr6:68357683..68359642-chr6:68370181..68373049,2	MCF-7	breast:
11	chr6:68361466..68364465-chr6:68587796..68590691,2	K562	blood:
12	chr6:68357683..68359642-chr6:68370181..68373049,2	MCF-7	breast:
13	chr6:68349476..68351287-chr6:68384246..68386682,2	K562	blood:
14	chr6:68307817..68309622-chr6:68313162..68315036,2	K562	blood:
15	chr6:68303209..68306059-chr6:68307817..68309668,2	K562	blood:
16	chr6:68307817..68309622-chr6:68313162..68315036,2	K562	blood:
17	chr6:68344247..68347231-chr6:68348042..68351033,2	K562	blood:

Variant related genes	Relation type
ENSG00000206672	TF binding region

Extended variants
information (count: 1037 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1418903	chr6:68269956-68269957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536504839	chr6:68269964-68269965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565607011	chr6:68269967-68269968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1418902	chr6:68269981-68269982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181376878	chr6:68269994-68269995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548109607	chr6:68270007-68270008	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs373365280	chr6:68270013-68270014	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs77052772	chr6:68270045-68270046	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs147819857	chr6:68270056-68270057	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs534598980	chr6:68270060-68270061	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs555006430	chr6:68270100-68270101	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs574793245	chr6:68270120-68270121	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543666416	chr6:68270133-68270134	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs563564389	chr6:68270170-68270171	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs577002877	chr6:68270183-68270184	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs536689388	chr6:68270190-68270191	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs561113724	chr6:68270199-68270200	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs559791138	chr6:68270249-68270250	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs367905567	chr6:68270259-68270260	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs377369582	chr6:68270296-68270297	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs76532416	chr6:68270311-68270312	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs540176012	chr6:68270357-68270358	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs185653950	chr6:68270360-68270361	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs530033114	chr6:68270395-68270396	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs550071421	chr6:68270407-68270408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141258809	chr6:68270429-68270430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532329717	chr6:68270433-68270434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552026197	chr6:68270456-68270457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2747167	chr6:68270465-68270466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs376347818	chr6:68270477-68270478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534371080	chr6:68270539-68270540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554556666	chr6:68270558-68270559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570134620	chr6:68270603-68270604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556391436	chr6:68270615-68270616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190713012	chr6:68270618-68270619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569893443	chr6:68270734-68270735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371335501	chr6:68270760-68270761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146956531	chr6:68270768-68270769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557218023	chr6:68270822-68270823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112986286	chr6:68270832-68270833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183466002	chr6:68270843-68270844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546377627	chr6:68270929-68270930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544279976	chr6:68270966-68270967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538328189	chr6:68270992-68270993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187210089	chr6:68271016-68271017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs137950115	chr6:68271048-68271049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192459085	chr6:68271095-68271096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562087364	chr6:68271096-68271097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530904392	chr6:68271192-68271193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572747993	chr6:68271255-68271256	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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68266200-68272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:68269000-68270000	Weak transcription	K562	blood
3	chr6:68270000-68270400	Flanking Active TSS	K562	blood
4	chr6:68270400-68274600	Weak transcription	K562	blood
5	chr6:68272800-68273000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:68273000-68273200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:68274600-68275000	Enhancers	K562	blood
8	chr6:68284800-68285200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:68312200-68313000	Enhancers	Fetal Lung	lung
10	chr6:68313000-68317200	Weak transcription	Fetal Lung	lung
11	chr6:68313400-68313600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr6:68313600-68316400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:68314600-68315000	Enhancers	Liver	Liver
14	chr6:68315000-68316400	Weak transcription	Liver	Liver
15	chr6:68316400-68317600	Enhancers	HUVEC	blood vessel
16	chr6:68316400-68318400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr6:68316400-68318600	Enhancers	Liver	Liver
18	chr6:68316800-68317600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:68317200-68318600	Enhancers	Fetal Lung	lung
20	chr6:68331200-68333600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:68331800-68332800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:68338200-68339400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:68338400-68340000	Enhancers	HUVEC	blood vessel
24	chr6:68338600-68340600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:68338800-68339800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:68338800-68340400	Enhancers	Fetal Lung	lung
27	chr6:68338800-68341000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:68339000-68339600	Enhancers	NH-A	brain
29	chr6:68339000-68340600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:68339200-68340000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:68339400-68340000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:68339400-68340800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:68339600-68340200	Flanking Active TSS	NH-A	brain
34	chr6:68339800-68340200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:68339800-68340800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr6:68340000-68340200	Active TSS	NHDF-Ad	bronchial
37	chr6:68340000-68340400	Flanking Active TSS	HUVEC	blood vessel
38	chr6:68340000-68340600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:68340000-68341400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:68340200-68340400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:68340200-68340400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:68340200-68340400	Flanking Active TSS	NHDF-Ad	bronchial
43	chr6:68340200-68340600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:68340200-68340800	Enhancers	NH-A	brain
45	chr6:68340400-68340800	Enhancers	NHDF-Ad	bronchial
46	chr6:68340400-68341000	Enhancers	HUVEC	blood vessel
47	chr6:68340400-68344000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:68340600-68344000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:68341000-68341400	Weak transcription	HUVEC	blood vessel
50	chr6:68341400-68341600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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