Variant report

Variant	nsv5503
Chromosome Location	chr6:140511360-140556183
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	chr6:140519795-140519962	K562	blood:	n/a	n/a
2	CBX3	chr6:140514433-140514788	K562	blood:	n/a	n/a
3	CBX3	chr6:140513098-140513521	K562	blood:	n/a	n/a
4	CBX3	chr6:140514504-140514838	K562	blood:	n/a	n/a
5	CBX3	chr6:140513220-140513479	K562	blood:	n/a	n/a
6	CCNT2	chr6:140531068-140531268	K562	blood:	n/a	n/a
7	CEBPB	chr6:140519916-140520206	HepG2	liver:	n/a	chr6:140520026-140520037 chr6:140520094-140520105
8	CEBPB	chr6:140549688-140550018	HepG2	liver:	n/a	chr6:140549845-140549856
9	CEBPB	chr6:140549703-140550015	A549	lung:	n/a	chr6:140549845-140549856
10	CEBPB	chr6:140548597-140549071	HepG2	liver:	n/a	chr6:140548925-140548938 chr6:140549060-140549071 chr6:140548913-140548924 chr6:140548913-140548926
11	CEBPB	chr6:140548745-140549040	IMR90	lung:	n/a	chr6:140548925-140548938 chr6:140548913-140548924 chr6:140548913-140548926
12	CEBPB	chr6:140549789-140549981	Hela-S3	cervix:	n/a	chr6:140549845-140549856
13	CEBPB	chr6:140519930-140520165	K562	blood:	n/a	chr6:140520026-140520037 chr6:140520094-140520105
14	CEBPB	chr6:140549691-140550009	IMR90	lung:	n/a	chr6:140549845-140549856
15	CEBPB	chr6:140554159-140554212	IMR90	lung:	n/a	n/a
16	CEBPB	chr6:140549693-140549919	K562	blood:	n/a	chr6:140549845-140549856
17	CEBPB	chr6:140533216-140533242	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr6:140531005-140531322	HepG2	liver:	n/a	chr6:140531173-140531184
19	CEBPB	chr6:140522218-140522432	HepG2	liver:	n/a	chr6:140522337-140522348
20	CEBPB	chr6:140519874-140520197	Hela-S3	cervix:	n/a	chr6:140520026-140520037 chr6:140520094-140520105
21	CEBPB	chr6:140531069-140531318	H1-hESC	embryonic stem cell:	n/a	chr6:140531173-140531184
22	CTCF	chr6:140527140-140527290	WI-38	lung:	n/a	n/a
23	CTCF	chr6:140544700-140544850	HVMF	connective:	n/a	n/a
24	CTCF	chr6:140550280-140550430	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:140550282-140550305	MCF-7	breast:	n/a	n/a
26	CTCF	chr6:140554039-140554106	GM10248	blood:	n/a	n/a
27	CTCF	chr6:140546046-140546068	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr6:140516506-140516561	LNCaP	prostate:	n/a	n/a
29	EP300	chr6:140529369-140530048	SK-N-SH	brain:	n/a	n/a
30	EP300	chr6:140547186-140547487	SK-N-SH_RA	brain:	n/a	chr6:140547278-140547287
31	EP300	chr6:140546136-140547259	T-47D	breast:	n/a	chr6:140546662-140546676
32	EP300	chr6:140546527-140548461	SK-N-SH	brain:	n/a	chr6:140546662-140546676 chr6:140547770-140547784 chr6:140547278-140547287 chr6:140547762-140547776
33	EP300	chr6:140529393-140529884	ECC-1	luminal epithelium:	n/a	n/a
34	EP300	chr6:140524733-140525651	SK-N-SH	brain:	n/a	chr6:140525188-140525198 chr6:140525514-140525523
35	EP300	chr6:140524597-140525702	SK-N-SH	brain:	n/a	chr6:140525188-140525198 chr6:140525514-140525523
36	EP300	chr6:140529427-140529870	SK-N-SH_RA	brain:	n/a	n/a
37	EP300	chr6:140546546-140548377	SK-N-SH	brain:	n/a	chr6:140546662-140546676 chr6:140547770-140547784 chr6:140547278-140547287 chr6:140547762-140547776
38	EP300	chr6:140547242-140547502	SK-N-SH_RA	brain:	n/a	chr6:140547278-140547287
39	EP300	chr6:140546575-140547685	SK-N-SH	brain:	n/a	chr6:140546662-140546676 chr6:140547278-140547287
40	EP300	chr6:140524874-140525616	SK-N-SH_RA	brain:	n/a	chr6:140525188-140525198 chr6:140525514-140525523
41	EP300	chr6:140547752-140548069	SK-N-SH_RA	brain:	n/a	chr6:140547770-140547784 chr6:140547762-140547776
42	EP300	chr6:140546706-140547138	SK-N-SH_RA	brain:	n/a	n/a
43	EP300	chr6:140529462-140529847	SK-N-SH_RA	brain:	n/a	n/a
44	EP300	chr6:140533108-140533111	GM12878	blood:	n/a	n/a
45	FOS	chr6:140546740-140547472	HUVEC	blood vessel:	n/a	n/a
46	FOS	chr6:140525422-140525523	MCF10A-Er-Src	breast:	n/a	chr6:140525514-140525523 chr6:140525516-140525523
47	FOSL2	chr6:140546681-140547620	SK-N-SH	brain:	n/a	n/a
48	FOXA1	chr6:140551446-140551709	HepG2	liver:	n/a	chr6:140551638-140551653
49	FOXA1	chr6:140551525-140551727	T-47D	breast:	n/a	chr6:140551638-140551653
50	FOXA1	chr6:140546289-140547195	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:140503911..140507978-chr6:140508654..140513269,4	K562	blood:
2	chr6:140534009..140535840-chr6:140539228..140542033,2	K562	blood:
3	chr6:140534009..140535840-chr6:140539228..140542033,2	K562	blood:
4	chr6:140532063..140533672-chr6:140539512..140541736,2	K562	blood:
5	chr6:140505744..140507717-chr6:140517169..140519648,2	K562	blood:
6	chr13:105377776..105378623-chr6:140538409..140539126,2	MCF-7	breast:
7	chr6:140520638..140522194-chr6:140526984..140528486,2	K562	blood:
8	chr6:140534052..140535840-chr6:140537958..140540728,3	K562	blood:
9	chr6:139693533..139695365-chr6:140524247..140526813,3	K562	blood:
10	chr6:140520321..140522194-chr6:140526298..140528486,2	K562	blood:
11	chr6:140525648..140527331-chr6:140535285..140538098,2	K562	blood:
12	chr6:140525279..140526991-chr6:140532137..140534862,2	MCF-7	breast:
13	chr6:140506210..140508246-chr6:140511712..140513687,2	K562	blood:
14	chr6:140469028..140473078-chr6:140508512..140512504,3	K562	blood:
15	chr6:140506139..140508848-chr6:140538738..140540926,2	K562	blood:
16	chr6:140520638..140522194-chr6:140526984..140528486,2	K562	blood:
17	chr6:140533963..140536569-chr6:140568826..140570409,2	K562	blood:
18	chr6:140538760..140541434-chr6:140543079..140545018,2	K562	blood:
19	chr6:140511544..140514524-chr6:140522660..140525197,2	K562	blood:
20	chr6:140532063..140533672-chr6:140539512..140541736,2	K562	blood:
21	chr6:140511544..140514524-chr6:140522660..140525197,2	K562	blood:
22	chr6:140524041..140529376-chr6:140531337..140535137,6	K562	blood:
23	chr6:140538760..140541434-chr6:140543079..140545018,2	K562	blood:
24	chr6:140521774..140524611-chr6:140525360..140528267,2	MCF-7	breast:
25	chr6:140534052..140535840-chr6:140537958..140540728,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HECA-9	chr6:140515859-140520210	NONHSAT115283

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3668	chr6:140526397-140526417	MIMAT0018091

Variant related genes	Relation type
MIR3668	TF binding region
ENSG00000164442	chromatin interactions
ENSG00000263514	chromatin interactions

Extended variants
information (count: 1255 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1255 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565918780	chr6:140511399-140511400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536432755	chr6:140511470-140511471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555148929	chr6:140511510-140511511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117325033	chr6:140511519-140511520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151152138	chr6:140511529-140511530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566274951	chr6:140511615-140511616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577485910	chr6:140511642-140511643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75772568	chr6:140511643-140511644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372148203	chr6:140511654-140511655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530264463	chr6:140511666-140511667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140173343	chr6:140511697-140511698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574719542	chr6:140511708-140511709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542014553	chr6:140511709-140511710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189910518	chr6:140511726-140511727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150329434	chr6:140511732-140511733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549533127	chr6:140511749-140511750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182418516	chr6:140511764-140511765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569948182	chr6:140511773-140511774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78500492	chr6:140511785-140511786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547744150	chr6:140511796-140511797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538807033	chr6:140511810-140511811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565979751	chr6:140511825-140511826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138932584	chr6:140511847-140511848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116460884	chr6:140511885-140511886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570052822	chr6:140511932-140511933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187772123	chr6:140511958-140511959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546640932	chr6:140511966-140511967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558785745	chr6:140511992-140511993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12174980	chr6:140512020-140512021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535110367	chr6:140512057-140512058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140670110	chr6:140512116-140512117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1587171	chr6:140512167-140512168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs201293139	chr6:140512170-140512171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs137892605	chr6:140512208-140512209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542022949	chr6:140512230-140512231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557503466	chr6:140512232-140512233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576073534	chr6:140512244-140512245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543538857	chr6:140512260-140512261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377014062	chr6:140512298-140512299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564809332	chr6:140512340-140512341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192792280	chr6:140512349-140512350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541020682	chr6:140512351-140512352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559692815	chr6:140512367-140512368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201178198	chr6:140512412-140512413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145852827	chr6:140512413-140512414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375033203	chr6:140512506-140512507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530603195	chr6:140512525-140512526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528638083	chr6:140512535-140512536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570607244	chr6:140512543-140512544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184844194	chr6:140512566-140512567	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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	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
Colorectal cancer	16272173	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140497000-140516400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:140505800-140513000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:140510000-140514200	Weak transcription	K562	blood
4	chr6:140510000-140514800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:140511000-140517800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:140513000-140513800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr6:140514200-140514600	ZNF genes & repeats	K562	blood
8	chr6:140514800-140515000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:140514800-140515000	ZNF genes & repeats	Aorta	Aorta
10	chr6:140514800-140515400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:140516800-140524000	Weak transcription	Fetal Heart	heart
12	chr6:140517800-140518000	ZNF genes & repeats	Left Ventricle	heart
13	chr6:140523200-140524800	Enhancers	NHDF-Ad	bronchial
14	chr6:140523200-140525600	Enhancers	NHLF	lung
15	chr6:140523400-140525000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:140523400-140525600	Enhancers	Fetal Lung	lung
17	chr6:140523800-140524000	Enhancers	Stomach Smooth Muscle	stomach
18	chr6:140523800-140524400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:140523800-140525000	Enhancers	Adipose Nuclei	Adipose
20	chr6:140523800-140525600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:140523800-140525600	Enhancers	HUVEC	blood vessel
22	chr6:140524000-140524600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr6:140524000-140525200	Enhancers	Fetal Heart	heart
24	chr6:140524000-140525600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:140524200-140525000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:140524200-140525600	Enhancers	Fetal Stomach	stomach
27	chr6:140524200-140525600	Enhancers	Osteobl	bone
28	chr6:140524200-140525800	Enhancers	Colon Smooth Muscle	Colon
29	chr6:140524400-140525400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:140524400-140525400	Enhancers	Rectal Smooth Muscle	rectum
31	chr6:140524400-140525800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:140524400-140526000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:140524600-140525200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr6:140524600-140525600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:140524600-140525600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr6:140524600-140525800	Enhancers	Stomach Smooth Muscle	stomach
37	chr6:140524800-140525000	Enhancers	Psoas Muscle	Psoas
38	chr6:140524800-140525000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr6:140524800-140525200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:140524800-140525600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:140524800-140525600	Enhancers	Right Ventricle	heart
42	chr6:140524800-140525600	Enhancers	NH-A	brain
43	chr6:140524800-140525600	Flanking Active TSS	NHDF-Ad	bronchial
44	chr6:140525000-140525200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr6:140525000-140525600	Enhancers	HSMMtube	muscle
46	chr6:140525000-140526400	Enhancers	HSMM	muscle
47	chr6:140525000-140529200	Weak transcription	Adipose Nuclei	Adipose
48	chr6:140525200-140525400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr6:140525200-140529000	Weak transcription	Fetal Heart	heart
50	chr6:140525400-140525600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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