Variant report

Variant	nsv604096
Chromosome Location	chr6:86576854-86649705
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	chr6:86632675-86632979	HepG2	liver:	n/a	n/a
2	BACH1	chr6:86578018-86578101	K562	blood:	n/a	n/a
3	CEBPB	chr6:86646649-86646989	K562	blood:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
4	CEBPB	chr6:86646714-86646969	Hela-S3	cervix:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
5	CEBPB	chr6:86632747-86633096	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr6:86646640-86647004	IMR90	lung:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
7	CEBPB	chr6:86646644-86647001	HepG2	liver:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
8	CEBPB	chr6:86597178-86597556	MCF-7	breast:	n/a	n/a
9	CEBPB	chr6:86646644-86647001	H1-hESC	embryonic stem cell:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
10	CEBPB	chr6:86646705-86647085	MCF-7	breast:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
11	CEBPB	chr6:86646680-86646987	A549	lung:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
12	CHD1	chr6:86602177-86602393	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr6:86632740-86632890	GM12801	blood:	n/a	n/a
14	CTCF	chr6:86632760-86632910	GM12867	blood:	n/a	n/a
15	CTCF	chr6:86632796-86632939	MCF-7	breast:	n/a	n/a
16	CTCF	chr6:86632720-86632870	HAc	cerebellar:	n/a	n/a
17	CTCF	chr6:86632567-86633111	HCT-116	colon:	n/a	n/a
18	CTCF	chr6:86632760-86632910	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr6:86632780-86632930	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr6:86632756-86632989	GM19239	blood:	n/a	n/a
21	CTCF	chr6:86632760-86632910	K562	blood:	n/a	n/a
22	CTCF	chr6:86632790-86632919	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:86632720-86632870	GM12871	blood:	n/a	n/a
24	CTCF	chr6:86632740-86632890	HCFaa	heart:	n/a	n/a
25	CTCF	chr6:86632760-86632910	HEK293	kidney:	n/a	n/a
26	CTCF	chr6:86632760-86632910	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr6:86632780-86632930	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr6:86632760-86632910	HVMF	connective:	n/a	n/a
29	CTCF	chr6:86632740-86632890	NB4	blood:	n/a	n/a
30	CTCF	chr6:86632860-86633010	HCM	heart:	n/a	n/a
31	CTCF	chr6:86632687-86632988	HepG2	liver:	n/a	n/a
32	CTCF	chr6:86632780-86632930	AG09309	skin:	n/a	n/a
33	CTCF	chr6:86632702-86632963	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chr6:86632760-86632910	AG09319	gingival:	n/a	n/a
35	CTCF	chr6:86632780-86632930	GM12867	blood:	n/a	n/a
36	CTCF	chr6:86598901-86598957	GM20000	blood:	n/a	n/a
37	CTCF	chr6:86632700-86632850	WI-38	lung:	n/a	n/a
38	CTCF	chr6:86632740-86632890	NHLF	lung:	n/a	n/a
39	CTCF	chr6:86632820-86632970	NHEK	skin:	n/a	n/a
40	CTCF	chr6:86632800-86632950	HEK293	kidney:	n/a	n/a
41	CTCF	chr6:86632513-86633024	K562	blood:	n/a	n/a
42	CTCF	chr6:86632732-86632967	ProgFib	skin:	n/a	n/a
43	CTCF	chr6:86632659-86633021	IMR90	lung:	n/a	n/a
44	CTCF	chr6:86632800-86632950	K562	blood:	n/a	n/a
45	CTCF	chr6:86632616-86633036	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr6:86632480-86632630	GM06990	blood:	n/a	n/a
47	CTCF	chr6:86632740-86632890	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr6:86633060-86633210	GM12865	blood:	n/a	n/a
49	CTCF	chr6:86632760-86632910	AG04449	skin:	n/a	n/a
50	CTCF	chr6:86632716-86632970	LNCaP	prostate:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:86632071..86633265-chr6:86884594..86886454,5	MCF-7	breast:
2	chr6:86597171..86598674-chr6:86601290..86603346,2	K562	blood:
3	chr6:86632367..86633291-chr6:86884579..86885474,2	MCF-7	breast:
4	chr6:86597171..86598674-chr6:86601290..86603346,2	K562	blood:
5	chr6:86632253..86632927-chr6:87646756..87647373,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NT5E-8	chr6:86578671-86579182	NONHSAT113874

Variant related genes	Relation type
ENSG00000218766	TF binding region
ENSG00000168830	chromatin interactions

Extended variants
information (count: 1822 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1822 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2121594	chr6:86576854-86576855	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560624363	chr6:86576875-86576876	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371060967	chr6:86576877-86576878	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs566214194	chr6:86576888-86576889	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs143296790	chr6:86576893-86576894	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs151283010	chr6:86576895-86576896	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs543628759	chr6:86576907-86576908	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs565577784	chr6:86576914-86576915	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs532656992	chr6:86576915-86576916	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs548101337	chr6:86576924-86576925	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs141625288	chr6:86576943-86576944	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs559019608	chr6:86576963-86576964	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs548735123	chr6:86576972-86576973	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs570130754	chr6:86576993-86576994	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs73491259	chr6:86576996-86576997	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549661899	chr6:86576997-86576998	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571525594	chr6:86577006-86577007	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558331646	chr6:86577046-86577047	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs62445024	chr6:86577052-86577053	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184607940	chr6:86577064-86577065	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs147048391	chr6:86577066-86577067	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs189280790	chr6:86577098-86577099	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs138285850	chr6:86577129-86577130	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs114171299	chr6:86577130-86577131	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs544007235	chr6:86577135-86577136	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs558927412	chr6:86577150-86577151	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs201122508	chr6:86577151-86577152	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs577366713	chr6:86577164-86577165	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs181948667	chr6:86577182-86577183	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs10944157	chr6:86577199-86577200	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs142902947	chr6:86577228-86577229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542215941	chr6:86577238-86577239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563806577	chr6:86577239-86577240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530868104	chr6:86577275-86577276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552629927	chr6:86577276-86577277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571397520	chr6:86577289-86577290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532150424	chr6:86577324-86577325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547319800	chr6:86577392-86577393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557008438	chr6:86577393-86577394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138047116	chr6:86577411-86577412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573360221	chr6:86577416-86577417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535851340	chr6:86577424-86577425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9450347	chr6:86577453-86577454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569626787	chr6:86577459-86577460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115754866	chr6:86577460-86577461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184430271	chr6:86577463-86577464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577398491	chr6:86577465-86577466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541604345	chr6:86577471-86577472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553723739	chr6:86577480-86577481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368646386	chr6:86577506-86577507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86563200-86577800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:86575000-86577000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr6:86575200-86577200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
4	chr6:86575200-86583400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:86575800-86577200	Active TSS	Fetal Brain Male	brain
6	chr6:86576000-86577000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:86576000-86577200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:86576000-86577200	Flanking Active TSS	Fetal Lung	lung
9	chr6:86576000-86577200	Flanking Active TSS	HepG2	liver
10	chr6:86576000-86577600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:86576200-86577000	Enhancers	Esophagus	oesophagus
12	chr6:86576200-86577000	Enhancers	Left Ventricle	heart
13	chr6:86576200-86577000	Enhancers	Right Atrium	heart
14	chr6:86576200-86577000	Enhancers	Spleen	Spleen
15	chr6:86576200-86577200	Enhancers	Pancreas	Pancrea
16	chr6:86576200-86578000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:86576200-86578200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr6:86576400-86577000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:86576400-86577000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:86576400-86577000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:86576400-86577000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr6:86576400-86577000	Enhancers	Brain Hippocampus Middle	brain
23	chr6:86576400-86577200	Enhancers	Fetal Kidney	kidney
24	chr6:86576400-86578000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:86576400-86579400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr6:86576600-86577000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:86576600-86577200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr6:86576600-86577800	Enhancers	Colon Smooth Muscle	Colon
29	chr6:86576800-86577000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr6:86576800-86577000	Enhancers	Rectal Smooth Muscle	rectum
31	chr6:86576800-86577200	Enhancers	Ovary	ovary
32	chr6:86576800-86577200	Enhancers	Stomach Smooth Muscle	stomach
33	chr6:86576800-86577400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:86576800-86580000	Weak transcription	Psoas Muscle	Psoas
35	chr6:86577000-86578600	Weak transcription	Spleen	Spleen
36	chr6:86577000-86579000	Weak transcription	Esophagus	oesophagus
37	chr6:86577200-86577400	Enhancers	HepG2	liver
38	chr6:86577200-86578000	Enhancers	Fetal Lung	lung
39	chr6:86577200-86578400	Weak transcription	Ovary	ovary
40	chr6:86577200-86578400	Weak transcription	Pancreas	Pancrea
41	chr6:86577200-86578800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr6:86578400-86578800	Enhancers	Pancreas	Pancrea
43	chr6:86578400-86579200	Enhancers	Ovary	ovary
44	chr6:86578600-86578800	Enhancers	Left Ventricle	heart
45	chr6:86578600-86579000	Active TSS	Spleen	Spleen
46	chr6:86579000-86579200	Enhancers	Esophagus	oesophagus
47	chr6:86579200-86584000	Weak transcription	Ovary	ovary
48	chr6:86589600-86590200	Enhancers	Fetal Lung	lung
49	chr6:86601400-86602200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:86601800-86602200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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