Variant report

Variant	nsv886228
Chromosome Location	chr6:78568478-78749386
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	ARID3A	chr6:78635944-78636263	HepG2	liver:	n/a	n/a
2	CEBPB	chr6:78643089-78643174	A549	lung:	n/a	n/a
3	CEBPB	chr6:78678750-78678987	A549	lung:	n/a	chr6:78678828-78678837 chr6:78678828-78678837 chr6:78678827-78678838 chr6:78678826-78678839 chr6:78678828-78678837 chr6:78678826-78678839 chr6:78678826-78678837 chr6:78678828-78678837
4	CEBPB	chr6:78636105-78636242	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr6:78685530-78685797	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr6:78590222-78590599	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr6:78678742-78679066	HepG2	liver:	n/a	chr6:78678828-78678837 chr6:78678828-78678837 chr6:78678827-78678838 chr6:78678826-78678839 chr6:78678828-78678837 chr6:78678826-78678839 chr6:78678826-78678837 chr6:78678828-78678837
8	CEBPB	chr6:78646654-78646963	HepG2	liver:	n/a	n/a
9	CTCF	chr6:78635886-78636250	HCT-116	colon:	n/a	n/a
10	CTCF	chr6:78706734-78706841	MCF-7	breast:	n/a	n/a
11	CTCF	chr6:78589340-78589490	HepG2	liver:	n/a	n/a
12	CTCF	chr6:78689868-78689876	Lung_OC	lung:	n/a	n/a
13	CTCF	chr6:78635997-78636249	LNCaP	prostate:	n/a	n/a
14	CTCF	chr6:78636060-78636210	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr6:78636040-78636190	GM12865	blood:	n/a	n/a
16	CTCF	chr6:78636040-78636190	Caco-2	colon:	n/a	n/a
17	CTCF	chr6:78636000-78636150	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr6:78663391-78663432	GM13977	blood:	n/a	n/a
19	CTCF	chr6:78636060-78636210	HAc	cerebellar:	n/a	n/a
20	CTCF	chr6:78636140-78636290	NB4	blood:	n/a	n/a
21	CTCF	chr6:78636020-78636170	GM12874	blood:	n/a	n/a
22	CTCF	chr6:78689832-78689867	Lung_OC	lung:	n/a	n/a
23	CTCF	chr6:78636040-78636190	HCT-116	colon:	n/a	n/a
24	CTCF	chr6:78636033-78636207	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:78636020-78636170	NHEK	skin:	n/a	n/a
26	CTCF	chr6:78635931-78636307	GM12878	blood:	n/a	n/a
27	CTCF	chr6:78578818-78578876	LNCaP	prostate:	n/a	n/a
28	CTCF	chr6:78635908-78636271	MCF-7	breast:	n/a	n/a
29	CTCF	chr6:78636011-78636235	LNCaP	prostate:	n/a	n/a
30	CTCF	chr6:78661177-78661290	GM13976	blood:	n/a	n/a
31	CTCF	chr6:78706750-78706799	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr6:78635863-78636325	MCF-7	breast:	n/a	n/a
33	CTCF	chr6:78635960-78636110	GM06990	blood:	n/a	n/a
34	CTCF	chr6:78706749-78706783	MCF-7	breast:	n/a	n/a
35	CTCF	chr6:78636000-78636150	GM12878	blood:	n/a	n/a
36	CTCF	chr6:78636060-78636210	HEEpiC	esophagus:	n/a	n/a
37	CTCF	chr6:78635940-78636090	RPTEC	kidney:	n/a	n/a
38	CTCF	chr6:78636100-78636250	K562	blood:	n/a	n/a
39	CTCF	chr6:78636060-78636210	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr6:78635963-78636325	HepG2	liver:	n/a	n/a
41	CTCF	chr6:78595300-78595450	HepG2	liver:	n/a	n/a
42	CTCF	chr6:78636102-78636160	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr6:78635724-78636379	SK-N-SH	brain:	n/a	n/a
44	CTCF	chr6:78636060-78636210	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr6:78636060-78636210	HCT-116	colon:	n/a	n/a
46	CTCF	chr6:78641187-78641219	Lung_OC	lung:	n/a	n/a
47	CTCF	chr6:78636060-78636210	GM12865	blood:	n/a	n/a
48	CTCF	chr6:78635796-78636355	HCT-116	colon:	n/a	n/a
49	CTCF	chr6:78636020-78636170	SAEC	small airway:	n/a	n/a
50	CTCF	chr6:78635992-78636320	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:78588151..78590093-chr6:78592344..78594893,2	K562	blood:
2	chr3:63179133..63179654-chr6:78736848..78737349,2	MCF-7	breast:
3	chr6:78588151..78590093-chr6:78592344..78594893,2	K562	blood:
4	chr6:78449862..78450824-chr6:78635645..78636377,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IRAK1BP1-5	chr6:78595367-78595498	l_3208_chr6:78417002-78689824_testes
2	lnc-IRAK1BP1-5	chr6:78689525-78690012	l_3208_chr6:78417002-78689824_testes

Variant related genes	Relation type
ENSG00000252932	TF binding region

Extended variants
information (count: 977 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200461522	chr6:78572005-78572006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs201405827	chr6:78572007-78572008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs567139337	chr6:78572017-78572018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs141083119	chr6:78572112-78572113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs372942450	chr6:78572113-78572114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs375716536	chr6:78572126-78572127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs187349305	chr6:78572150-78572151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs571012709	chr6:78572153-78572154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs2200170	chr6:78572177-78572178	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs138505720	chr6:78572193-78572194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs12664824	chr6:78572232-78572233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536423147	chr6:78572240-78572241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193116864	chr6:78572264-78572265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2220062	chr6:78572265-78572266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115744216	chr6:78572283-78572284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558954096	chr6:78572357-78572358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183952132	chr6:78572358-78572359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143468507	chr6:78572378-78572379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565442163	chr6:78581023-78581024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138937123	chr6:78581043-78581044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549534872	chr6:78581113-78581114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562974077	chr6:78581178-78581179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13204625	chr6:78581220-78581221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs9448239	chr6:78581264-78581265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs565436443	chr6:78581267-78581268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75184137	chr6:78581278-78581279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558992167	chr6:78581355-78581356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551515515	chr6:78581370-78581371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35307994	chr6:78581387-78581388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375813007	chr6:78581394-78581395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201829812	chr6:78581428-78581429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571468645	chr6:78581431-78581432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12189645	chr6:78581432-78581433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537769188	chr6:78581437-78581438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112269899	chr6:78581440-78581441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557269393	chr6:78581450-78581451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544557577	chr6:78581502-78581503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370135005	chr6:78581524-78581525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6919826	chr6:78581592-78581593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs149439194	chr6:78581602-78581603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563797270	chr6:78581651-78581652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553550874	chr6:78581686-78581687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187034042	chr6:78581720-78581721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545280384	chr6:78581728-78581729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188832954	chr6:78581732-78581733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117465459	chr6:78581737-78581738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181460121	chr6:78581746-78581747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561237769	chr6:78581768-78581769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377088271	chr6:78581815-78581816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529421985	chr6:78581836-78581837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19036926	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78572000-78572200	ZNF genes & repeats	Pancreas	Pancrea
2	chr6:78572200-78572400	Enhancers	Pancreas	Pancrea
3	chr6:78581000-78582000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:78582000-78582200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:78582000-78582200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:78589200-78592000	Enhancers	HepG2	liver
7	chr6:78590400-78590800	Enhancers	HUVEC	blood vessel
8	chr6:78590600-78591000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:78590800-78593200	Weak transcription	HUVEC	blood vessel
10	chr6:78592200-78592400	Enhancers	Fetal Heart	heart
11	chr6:78592400-78593400	Weak transcription	Fetal Heart	heart
12	chr6:78593200-78594400	Enhancers	HUVEC	blood vessel
13	chr6:78593400-78593800	Enhancers	Fetal Heart	heart
14	chr6:78593600-78594400	Enhancers	Hela-S3	cervix
15	chr6:78599400-78599600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:78599600-78601800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:78601800-78602400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:78601800-78602400	ZNF genes & repeats	Pancreas	Pancrea
19	chr6:78601800-78602800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:78602400-78609800	Weak transcription	Pancreas	Pancrea
21	chr6:78603000-78603400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr6:78603000-78603600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:78603200-78603600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:78604400-78604800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr6:78604800-78608600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr6:78608600-78609400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr6:78634400-78634600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:78634400-78634600	ZNF genes & repeats	Pancreas	Pancrea
29	chr6:78635800-78637000	Enhancers	Liver	Liver
30	chr6:78639200-78640200	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr6:78639200-78641000	Enhancers	Fetal Heart	heart
32	chr6:78639800-78640400	Active TSS	Right Atrium	heart
33	chr6:78640800-78641000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr6:78648200-78649200	Enhancers	HUVEC	blood vessel
35	chr6:78649400-78649600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:78693000-78694200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:78694200-78694600	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr6:78713000-78713800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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