Variant report

Variant	nsv981373
Chromosome Location	chr6:68759708-68782390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:109)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:68774950-68775153	K562	blood:	n/a	n/a
2	ARID3A	chr6:68763477-68764388	K562	blood:	n/a	n/a
3	ATF2	chr6:68769692-68770130	GM12878	blood:	n/a	n/a
4	BACH1	chr6:68781707-68781914	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL11A	chr6:68769785-68770081	GM12878	blood:	n/a	n/a
6	BHLHE40	chr6:68769623-68770180	GM12878	blood:	n/a	n/a
7	CCNT2	chr6:68763915-68764017	K562	blood:	n/a	n/a
8	CCNT2	chr6:68769999-68770199	K562	blood:	n/a	n/a
9	CCNT2	chr6:68776452-68776614	K562	blood:	n/a	n/a
10	CEBPB	chr6:68774819-68774870	K562	blood:	n/a	n/a
11	CHD2	chr6:68770019-68770027	GM12878	blood:	n/a	n/a
12	CTCF	chr6:68774969-68775193	K562	blood:	n/a	n/a
13	CTCF	chr6:68775020-68775170	K562	blood:	n/a	n/a
14	CTCF	chr6:68775080-68775149	K562	blood:	n/a	n/a
15	CUX1	chr6:68769846-68770161	GM12878	blood:	n/a	n/a
16	CUX1	chr6:68780970-68781333	K562	blood:	n/a	n/a
17	CUX1	chr6:68774861-68774876	K562	blood:	n/a	n/a
18	E2F4	chr6:68776492-68776806	MCF10A-Er-Src	breast:	n/a	n/a
19	EBF1	chr6:68769865-68770053	GM12878	blood:	n/a	n/a
20	EBF1	chr6:68781599-68781623	GM12878	blood:	n/a	n/a
21	EGR1	chr6:68774812-68775110	K562	blood:	n/a	n/a
22	EGR1	chr6:68774786-68775115	K562	blood:	n/a	n/a
23	EP300	chr6:68782213-68782217	K562	blood:	n/a	n/a
24	EP300	chr6:68779760-68780756	SK-N-SH	brain:	n/a	n/a
25	EP300	chr6:68769759-68770139	GM12878	blood:	n/a	chr6:68769872-68769886 chr6:68769894-68769908
26	EP300	chr6:68774895-68775184	K562	blood:	n/a	n/a
27	EP300	chr6:68763699-68764337	K562	blood:	n/a	chr6:68763702-68763716 chr6:68763721-68763729
28	EP300	chr6:68769855-68770131	GM12878	blood:	n/a	chr6:68769872-68769886 chr6:68769894-68769908
29	EP300	chr6:68769828-68770102	GM12878	blood:	n/a	chr6:68769872-68769886 chr6:68769894-68769908
30	EP300	chr6:68780282-68780544	SK-N-SH_RA	brain:	n/a	n/a
31	FOXM1	chr6:68769741-68770188	GM12878	blood:	n/a	n/a
32	FOXP2	chr6:68769844-68770194	SK-N-MC	brain:	n/a	n/a
33	GATA2	chr6:68761306-68761659	K562	blood:	n/a	n/a
34	GATA2	chr6:68779856-68780613	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr6:68763823-68764016	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr6:68780470-68780492	SH-SY5Y	brain:	n/a	n/a
37	HMGN3	chr6:68764936-68765051	K562	blood:	n/a	n/a
38	IKZF1	chr6:68769859-68770157	GM12878	blood:	n/a	n/a
39	IRF1	chr6:68764032-68764361	K562	blood:	n/a	n/a
40	IRF1	chr6:68762888-68762920	K562	blood:	n/a	n/a
41	IRF1	chr6:68763191-68763232	K562	blood:	n/a	n/a
42	IRF3	chr6:68764949-68765020	GM12878	blood:	n/a	n/a
43	JUND	chr6:68774805-68774968	K562	blood:	n/a	chr6:68774912-68774924 chr6:68774914-68774922 chr6:68774910-68774921
44	JUND	chr6:68763687-68763892	HepG2	liver:	n/a	n/a
45	KAP1	chr6:68771529-68771802	K562	blood:	n/a	n/a
46	KAP1	chr6:68772695-68772857	K562	blood:	n/a	n/a
47	MAFF	chr6:68780336-68780600	K562	blood:	n/a	n/a
48	MAFF	chr6:68763728-68764233	K562	blood:	n/a	n/a
49	MAFF	chr6:68762138-68762478	K562	blood:	n/a	chr6:68762316-68762334
50	MAFF	chr6:68762158-68762475	HepG2	liver:	n/a	chr6:68762316-68762334

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:68766937..68769442-chr6:68776616..68778718,2	K562	blood:
2	chr6:68590010..68592116-chr6:68758239..68761217,2	K562	blood:
3	chr6:68764935..68767430-chr6:68772727..68775053,2	K562	blood:
4	chr6:68768512..68771211-chr6:68773530..68775129,2	K562	blood:
5	chr6:68768797..68772245-chr6:68782443..68786519,4	K562	blood:
6	chr6:68769711..68772207-chr6:68773530..68776515,3	K562	blood:
7	chr6:68596610..68598765-chr6:68770657..68773135,2	K562	blood:
8	chr6:68781252..68783436-chr6:68786575..68788229,2	K562	blood:
9	chr6:68780423..68782404-chr6:68784751..68786623,2	MCF-7	breast:
10	chr6:68598667..68600473-chr6:68782150..68783722,2	K562	blood:
11	chr6:68779249..68781079-chr6:68782301..68784579,2	K562	blood:
12	chr6:68780591..68783458-chr6:68786266..68788567,2	K562	blood:
13	chr6:68779249..68781079-chr6:68782301..68784579,2	K562	blood:
14	chr6:68775688..68778235-chr6:68827459..68829005,2	K562	blood:
15	chr6:68766937..68769442-chr6:68776616..68778718,2	K562	blood:
16	chr6:68769711..68772207-chr6:68773530..68776515,3	K562	blood:
17	chr6:68593412..68595516-chr6:68761853..68764592,2	K562	blood:
18	chr6:68739881..68741764-chr6:68782103..68784299,2	K562	blood:
19	chr6:68768512..68771211-chr6:68773530..68775129,2	K562	blood:
20	chr6:68751722..68754945-chr6:68760904..68763806,4	K562	blood:
21	chr6:68771352..68773170-chr6:68818495..68820694,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAI3-1	chr6:68769026-68770430	NONHSAT113399
2	lnc-BAI3-1	chr6:68765242-68765327	NONHSAT113399
3	lnc-BAI3-1	chr6:68765243-68765327	XLOC_005340
4	lnc-BAI3-1	chr6:68769988-68770394	XLOC_005340

No data

Variant related genes	Relation type
ENSG00000223504	TF binding region
ENSG00000223504	chromatin interactions
ENSG00000227706	chromatin interactions

Extended variants
information (count: 841 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:841 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551425909	chr6:68759715-68759716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142093563	chr6:68759723-68759724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187532213	chr6:68759724-68759725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2219188	chr6:68759737-68759738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs570441244	chr6:68759816-68759817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537608359	chr6:68759841-68759842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111509335	chr6:68759891-68759892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191895596	chr6:68759894-68759895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566794081	chr6:68759910-68759911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35358689	chr6:68759915-68759916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535716060	chr6:68759928-68759929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555028147	chr6:68759943-68759944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184741268	chr6:68759950-68759951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543944499	chr6:68760005-68760006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557470820	chr6:68760058-68760059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577265734	chr6:68760094-68760095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200760300	chr6:68760103-68760104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546410319	chr6:68760111-68760112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190273550	chr6:68760127-68760128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528780896	chr6:68760191-68760192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9360314	chr6:68760219-68760220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535325459	chr6:68760239-68760240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561353405	chr6:68760264-68760265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193231346	chr6:68760324-68760325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs66505265	chr6:68760362-68760363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55693229	chr6:68760363-68760364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200310038	chr6:68760364-68760365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397706312	chr6:68760367-68760368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371520099	chr6:68760370-68760371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571647539	chr6:68760384-68760385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570553882	chr6:68760413-68760414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72896334	chr6:68760422-68760423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546791391	chr6:68760451-68760452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566646659	chr6:68760471-68760472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184482958	chr6:68760476-68760477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375399214	chr6:68760477-68760478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372252582	chr6:68760504-68760505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112748624	chr6:68760510-68760511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113357716	chr6:68760518-68760519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543773462	chr6:68760525-68760526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564132189	chr6:68760527-68760528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533182333	chr6:68760536-68760537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557392993	chr6:68760557-68760558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557057540	chr6:68760558-68760559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577282564	chr6:68760572-68760573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545952469	chr6:68760596-68760597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75337163	chr6:68760649-68760650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573060366	chr6:68760665-68760666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542006483	chr6:68760682-68760683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562088255	chr6:68760732-68760733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Breast cancer	21364760	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68751000-68770000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:68759200-68763600	Weak transcription	K562	blood
3	chr6:68759200-68769200	Weak transcription	Fetal Brain Male	brain
4	chr6:68763600-68763800	Active TSS	K562	blood
5	chr6:68763800-68764200	Flanking Active TSS	K562	blood
6	chr6:68764200-68764400	Enhancers	K562	blood
7	chr6:68765800-68766200	ZNF genes & repeats	K562	blood
8	chr6:68766200-68769200	Weak transcription	K562	blood
9	chr6:68769200-68769600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:68769200-68769600	ZNF genes & repeats	K562	blood
11	chr6:68769200-68769800	ZNF genes & repeats	GM12878-XiMat	blood
12	chr6:68769200-68770200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:68769200-68770200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:68769200-68770200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:68769200-68770200	Enhancers	Fetal Brain Male	brain
16	chr6:68769400-68769800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:68769400-68769800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:68769400-68769800	Enhancers	Adipose Nuclei	Adipose
19	chr6:68769400-68769800	Enhancers	Fetal Brain Female	brain
20	chr6:68769400-68770200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:68769400-68770200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:68769400-68770200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr6:68769400-68770200	Active TSS	Brain Anterior Caudate	brain
24	chr6:68769600-68769800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:68769600-68770000	Enhancers	Brain Germinal Matrix	brain
26	chr6:68769600-68775000	Weak transcription	K562	blood
27	chr6:68769800-68770200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:68769800-68770200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:68769800-68770200	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr6:68769800-68770200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:68769800-68770200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:68769800-68770200	Active TSS	Adipose Nuclei	Adipose
33	chr6:68769800-68770200	Active TSS	Brain Hippocampus Middle	brain
34	chr6:68769800-68770200	Active TSS	Fetal Brain Female	brain
35	chr6:68770000-68770200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:68770000-68770600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:68770200-68771000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:68770200-68771200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr6:68770200-68773800	Weak transcription	Fetal Brain Male	brain
40	chr6:68770200-68777800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:68770200-68778200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr6:68771000-68771200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:68771200-68771400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr6:68771800-68772000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:68772000-68778000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:68773800-68774000	Enhancers	Fetal Brain Male	brain
47	chr6:68775000-68775200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr6:68775000-68775200	Enhancers	K562	blood
49	chr6:68775200-68779000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:68775200-68785000	Weak transcription	K562	blood

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