Variant report

Variant	nsv886227
Chromosome Location	chr6:78554711-78718367
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	CCNT2	chr6:78564324-78564562	K562	blood:	n/a	n/a
3	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
4	CEBPB	chr6:78646654-78646963	HepG2	liver:	n/a	n/a
5	CEBPB	chr6:78567713-78567950	HepG2	liver:	n/a	chr6:78567824-78567833
6	CEBPB	chr6:78590222-78590599	Hela-S3	cervix:	n/a	n/a
7	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
8	CEBPB	chr6:78643089-78643174	A549	lung:	n/a	n/a
9	CEBPB	chr6:78636105-78636242	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr6:78685530-78685797	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr6:78636080-78636230	HMEC	breast:	n/a	n/a
12	CTCF	chr6:78715777-78715875	Lung_OC	lung:	n/a	n/a
13	CTCF	chr6:78711046-78711182	GM12878	blood:	n/a	n/a
14	CTCF	chr6:78636140-78636290	NB4	blood:	n/a	n/a
15	CTCF	chr6:78636040-78636190	WI-38	lung:	n/a	n/a
16	CTCF	chr6:78636011-78636235	LNCaP	prostate:	n/a	n/a
17	CTCF	chr6:78636040-78636190	Caco-2	colon:	n/a	n/a
18	CTCF	chr6:78636000-78636150	GM12878	blood:	n/a	n/a
19	CTCF	chr6:78636020-78636170	GM12874	blood:	n/a	n/a
20	CTCF	chr6:78636060-78636210	HepG2	liver:	n/a	n/a
21	CTCF	chr6:78636060-78636210	HCT-116	colon:	n/a	n/a
22	CTCF	chr6:78636020-78636170	GM12867	blood:	n/a	n/a
23	CTCF	chr6:78636013-78636232	HepG2	liver:	n/a	n/a
24	CTCF	chr6:78578818-78578876	LNCaP	prostate:	n/a	n/a
25	CTCF	chr6:78636060-78636210	RPTEC	kidney:	n/a	n/a
26	CTCF	chr6:78636060-78636210	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr6:78595300-78595450	HepG2	liver:	n/a	n/a
28	CTCF	chr6:78636102-78636160	Spleen_OC	spleen:	n/a	n/a
29	CTCF	chr6:78636060-78636210	GM12878	blood:	n/a	n/a
30	CTCF	chr6:78635908-78636271	MCF-7	breast:	n/a	n/a
31	CTCF	chr6:78636066-78636165	GM10248	blood:	n/a	n/a
32	CTCF	chr6:78635886-78636250	HCT-116	colon:	n/a	n/a
33	CTCF	chr6:78636020-78636170	NHEK	skin:	n/a	n/a
34	CTCF	chr6:78635940-78636090	RPTEC	kidney:	n/a	n/a
35	CTCF	chr6:78636060-78636210	HMEC	breast:	n/a	n/a
36	CTCF	chr6:78636060-78636210	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr6:78636060-78636210	HAc	cerebellar:	n/a	n/a
38	CTCF	chr6:78636100-78636250	K562	blood:	n/a	n/a
39	CTCF	chr6:78636048-78636172	GM13977	blood:	n/a	n/a
40	CTCF	chr6:78572188-78572221	Fibrobl	skin:	n/a	n/a
41	CTCF	chr6:78562500-78562650	HFF-Myc	foreskin:	n/a	n/a
42	CTCF	chr6:78663391-78663432	GM13977	blood:	n/a	n/a
43	CTCF	chr6:78635997-78636249	LNCaP	prostate:	n/a	n/a
44	CTCF	chr6:78636060-78636210	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr6:78636020-78636170	HEK293	kidney:	n/a	n/a
46	CTCF	chr6:78636000-78636150	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr6:78706715-78706841	MCF-7	breast:	n/a	n/a
48	CTCF	chr6:78636060-78636210	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr6:78706749-78706783	MCF-7	breast:	n/a	n/a
50	CTCF	chr6:78635955-78636208	HepG2	liver:	n/a	n/a

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

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: 1211 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1211 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370753428	chr6:78560419-78560420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552779937	chr6:78560437-78560438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546811861	chr6:78560550-78560551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562903024	chr6:78560567-78560568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374693528	chr6:78560605-78560606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145999571	chr6:78560606-78560607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568397455	chr6:78560621-78560622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535870624	chr6:78560631-78560632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182482781	chr6:78560636-78560637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571348756	chr6:78560646-78560647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566598890	chr6:78560647-78560648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371827825	chr6:78560665-78560666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4267916	chr6:78560666-78560667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185671848	chr6:78560678-78560679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538153252	chr6:78560690-78560691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368939826	chr6:78560780-78560781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566983662	chr6:78560805-78560806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371901556	chr6:78560807-78560808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554938694	chr6:78560834-78560835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574764060	chr6:78560859-78560860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376554894	chr6:78560909-78560910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369152218	chr6:78560916-78560917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540677859	chr6:78560932-78560933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560277406	chr6:78560941-78560942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201373455	chr6:78560955-78560956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190575896	chr6:78560965-78560966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372605105	chr6:78560982-78560983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545933430	chr6:78560986-78560987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376365342	chr6:78561024-78561025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143708438	chr6:78561046-78561047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531779381	chr6:78561048-78561049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181030615	chr6:78561065-78561066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9341699	chr6:78561066-78561067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80035963	chr6:78561086-78561087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185298954	chr6:78561144-78561145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377349915	chr6:78561234-78561235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566296452	chr6:78561244-78561245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532255833	chr6:78561267-78561268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190253787	chr6:78561276-78561277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568919303	chr6:78561283-78561284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181113176	chr6:78561293-78561294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12526572	chr6:78561339-78561340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs568405282	chr6:78561346-78561347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534041909	chr6:78561358-78561359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577801323	chr6:78561361-78561362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187026364	chr6:78561403-78561404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545163075	chr6:78561406-78561407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62425067	chr6:78561462-78561463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62425068	chr6:78561465-78561466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546295967	chr6:78561477-78561478	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78560400-78566000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:78572000-78572200	ZNF genes & repeats	Pancreas	Pancrea
3	chr6:78572200-78572400	Enhancers	Pancreas	Pancrea
4	chr6:78581000-78582000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:78582000-78582200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:78582000-78582200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:78589200-78592000	Enhancers	HepG2	liver
8	chr6:78590400-78590800	Enhancers	HUVEC	blood vessel
9	chr6:78590600-78591000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:78590800-78593200	Weak transcription	HUVEC	blood vessel
11	chr6:78592200-78592400	Enhancers	Fetal Heart	heart
12	chr6:78592400-78593400	Weak transcription	Fetal Heart	heart
13	chr6:78593200-78594400	Enhancers	HUVEC	blood vessel
14	chr6:78593400-78593800	Enhancers	Fetal Heart	heart
15	chr6:78593600-78594400	Enhancers	Hela-S3	cervix
16	chr6:78599400-78599600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:78599600-78601800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:78601800-78602400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:78601800-78602400	ZNF genes & repeats	Pancreas	Pancrea
20	chr6:78601800-78602800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:78602400-78609800	Weak transcription	Pancreas	Pancrea
22	chr6:78603000-78603400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr6:78603000-78603600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:78603200-78603600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:78604400-78604800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr6:78604800-78608600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr6:78608600-78609400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr6:78634400-78634600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:78634400-78634600	ZNF genes & repeats	Pancreas	Pancrea
30	chr6:78635800-78637000	Enhancers	Liver	Liver
31	chr6:78639200-78640200	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr6:78639200-78641000	Enhancers	Fetal Heart	heart
33	chr6:78639800-78640400	Active TSS	Right Atrium	heart
34	chr6:78640800-78641000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr6:78648200-78649200	Enhancers	HUVEC	blood vessel
36	chr6:78649400-78649600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:78693000-78694200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:78694200-78694600	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr6:78713000-78713800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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