Variant report

Variant	nsv1015906
Chromosome Location	chr6:69376236-69416331
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:34)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:69382904..69384801-chr6:69388403..69390209,2	K562	blood:
2	chr6:69411088..69412917-chr6:69473045..69475700,2	K562	blood:
3	chr6:69398238..69400997-chr6:69423873..69426595,2	K562	blood:
4	chr6:69411544..69413499-chr6:69432227..69434034,2	K562	blood:
5	chr6:69361193..69363364-chr6:69405270..69407471,2	K562	blood:
6	chr6:69397594..69401591-chr6:69402170..69406294,3	K562	blood:
7	chr6:69364943..69367696-chr6:69378038..69379934,2	K562	blood:
8	chr6:69373114..69378102-chr6:69378626..69382768,5	K562	blood:
9	chr6:69397594..69401591-chr6:69402170..69406294,3	K562	blood:
10	chr6:69407636..69409425-chr6:69411698..69413207,2	K562	blood:
11	chr6:69399688..69402508-chr6:69408019..69410089,2	K562	blood:
12	chr6:69377188..69378923-chr6:69381565..69383962,2	K562	blood:
13	chr6:69361193..69364307-chr6:69405003..69407471,3	K562	blood:
14	chr6:69393990..69395609-chr6:69405771..69407336,2	K562	blood:
15	chr6:69374562..69377202-chr6:69385965..69388256,2	K562	blood:
16	chr6:69403489..69405402-chr6:69413851..69416592,2	K562	blood:
17	chr6:69396018..69398717-chr6:69401123..69403909,3	K562	blood:
18	chr6:69403827..69406066-chr6:69418445..69421637,3	K562	blood:
19	chr6:69384897..69387338-chr6:69398147..69399804,2	K562	blood:
20	chr6:69399809..69401625-chr6:69437402..69440315,2	K562	blood:
21	chr6:69382904..69384801-chr6:69388403..69390209,2	K562	blood:
22	chr6:69373114..69378102-chr6:69378626..69382768,5	K562	blood:
23	chr6:69358126..69360054-chr6:69377146..69378782,2	K562	blood:
24	chr6:69343216..69345870-chr6:69407346..69409250,2	K562	blood:
25	chr6:69362720..69364963-chr6:69399822..69401400,2	K562	blood:
26	chr6:69415960..69417557-chr6:69419108..69420686,2	K562	blood:
27	chr6:69396018..69398717-chr6:69401123..69403909,3	K562	blood:
28	chr6:69399688..69402508-chr6:69408019..69410089,2	K562	blood:
29	chr6:69377188..69378923-chr6:69381565..69383962,2	K562	blood:
30	chr6:69407636..69409425-chr6:69411698..69413207,2	K562	blood:
31	chr6:69384897..69387338-chr6:69398147..69399804,2	K562	blood:
32	chr6:69403489..69405402-chr6:69413851..69416592,2	K562	blood:
33	chr6:69374562..69377202-chr6:69385965..69388256,2	K562	blood:
34	chr6:69393990..69395609-chr6:69405771..69407336,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL713998.1-7	chr6:69397184-69399669	l_3201_chr6:69396542-69401446_brain
2	lnc-AL713998.1-7	chr6:69400798-69401622	l_3201_chr6:69396542-69401446_brain
3	lnc-AL713998.1-7	chr6:69396543-69397078	l_3201_chr6:69396542-69401446_brain
4	lnc-AL713998.1-7	chr6:69399276-69399669	NONHSAT113417
5	lnc-AL713998.1-7	chr6:69400798-69400937	NONHSAT113417
6	lnc-COL19A1-3	chr6:69401884-69402149	expReg_chr6_6747_+

No data

Variant related genes	Relation type
ENSG00000230910	chromatin interactions
ENSG00000135298	chromatin interactions

Extended variants
information (count: 1369 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1369 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9454607	chr6:69376236-69376237	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564800657	chr6:69376273-69376274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572529561	chr6:69376276-69376277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140472133	chr6:69376289-69376290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200599399	chr6:69376336-69376337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562050529	chr6:69376379-69376380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530597724	chr6:69376415-69376416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544442007	chr6:69376435-69376436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77794533	chr6:69376486-69376487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564242218	chr6:69376487-69376488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532610342	chr6:69376504-69376505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138198956	chr6:69376540-69376541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371614868	chr6:69376552-69376553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566050461	chr6:69376592-69376593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34529762	chr6:69376607-69376608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528508490	chr6:69376635-69376636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369599370	chr6:69376662-69376663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182546069	chr6:69376666-69376667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144423780	chr6:69376670-69376671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187277332	chr6:69376739-69376740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190935984	chr6:69376746-69376747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112128552	chr6:69376791-69376792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180895034	chr6:69376836-69376837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533296719	chr6:69376848-69376849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546763544	chr6:69376895-69376896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552667222	chr6:69376920-69376921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147832961	chr6:69376928-69376929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572490698	chr6:69376952-69376953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185153799	chr6:69377002-69377003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555372088	chr6:69377005-69377006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75310863	chr6:69377057-69377058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544187696	chr6:69377066-69377067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139744136	chr6:69377089-69377090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117890883	chr6:69377098-69377099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568908529	chr6:69377139-69377140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372668852	chr6:69377141-69377142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559918005	chr6:69377190-69377191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528471092	chr6:69377218-69377219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548608958	chr6:69377227-69377228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115979853	chr6:69377234-69377235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397887299	chr6:69377246-69377247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116381437	chr6:69377256-69377257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551016227	chr6:69377283-69377284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570993297	chr6:69377340-69377341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539679437	chr6:69377451-69377452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142739822	chr6:69377488-69377489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546267634	chr6:69377545-69377546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566278490	chr6:69377577-69377578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190410483	chr6:69377591-69377592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148816910	chr6:69377594-69377595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69352200-69399000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:69364200-69399800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:69365800-69377400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:69367600-69377600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:69368400-69377800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:69374800-69382800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:69375000-69382800	Weak transcription	Fetal Lung	lung
8	chr6:69376000-69376400	Enhancers	K562	blood
9	chr6:69376200-69376400	Enhancers	Brain Angular Gyrus	brain
10	chr6:69376200-69376400	Enhancers	Brain Hippocampus Middle	brain
11	chr6:69376400-69377800	Weak transcription	Brain Angular Gyrus	brain
12	chr6:69376400-69380200	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:69377400-69379200	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:69377600-69378000	Enhancers	Brain Substantia Nigra	brain
15	chr6:69377600-69378200	Enhancers	Fetal Stomach	stomach
16	chr6:69377600-69379400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr6:69377800-69378200	Enhancers	Brain Angular Gyrus	brain
18	chr6:69377800-69378400	Enhancers	Brain Cingulate Gyrus	brain
19	chr6:69377800-69379400	Enhancers	Brain Anterior Caudate	brain
20	chr6:69378000-69379000	Weak transcription	Brain Substantia Nigra	brain
21	chr6:69378400-69379000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:69378800-69379400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:69379000-69379200	Enhancers	Brain Cingulate Gyrus	brain
24	chr6:69379000-69379400	Enhancers	Brain Substantia Nigra	brain
25	chr6:69379200-69396200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr6:69379200-69398800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:69379400-69382800	Weak transcription	Brain Anterior Caudate	brain
28	chr6:69379400-69382800	Weak transcription	Brain Substantia Nigra	brain
29	chr6:69380200-69380600	ZNF genes & repeats	Brain Hippocampus Middle	brain
30	chr6:69380600-69383200	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:69382400-69383200	Enhancers	K562	blood
32	chr6:69382800-69383200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:69382800-69383600	Enhancers	Brain Substantia Nigra	brain
34	chr6:69382800-69383800	Enhancers	Brain Anterior Caudate	brain
35	chr6:69382800-69384400	Enhancers	Fetal Lung	lung
36	chr6:69383000-69384800	Enhancers	Fetal Heart	heart
37	chr6:69383200-69383400	Enhancers	Brain Hippocampus Middle	brain
38	chr6:69383200-69383600	Enhancers	Brain Germinal Matrix	brain
39	chr6:69383200-69383600	Flanking Active TSS	K562	blood
40	chr6:69383200-69400000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:69383400-69388200	Weak transcription	Brain Hippocampus Middle	brain
42	chr6:69383600-69384200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:69383600-69386400	Weak transcription	Brain Germinal Matrix	brain
44	chr6:69383600-69386400	Weak transcription	K562	blood
45	chr6:69383600-69396000	Weak transcription	Brain Substantia Nigra	brain
46	chr6:69383800-69388400	Weak transcription	Brain Anterior Caudate	brain
47	chr6:69384400-69386000	Weak transcription	Fetal Lung	lung
48	chr6:69384800-69389800	Weak transcription	Fetal Heart	heart
49	chr6:69385200-69385800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:69385400-69385800	Enhancers	Primary hematopoietic stem cells	blood

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