Variant report

Variant	nsv1026831
Chromosome Location	chr6:68486914-68509030
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:68487636..68489959-chr6:68585344..68587572,2	K562	blood:
2	chr6:68506908..68510214-chr6:68588930..68590665,3	K562	blood:
3	chr6:68492831..68494635-chr6:68590295..68593150,2	K562	blood:
4	chr6:68500812..68503276-chr6:68505426..68509268,3	K562	blood:
5	chr6:68500812..68503514-chr6:68505426..68509054,4	K562	blood:
6	chr6:68496731..68499262-chr6:68502770..68504642,2	K562	blood:
7	chr6:68502919..68505150-chr6:68587246..68590550,4	K562	blood:
8	chr6:68500812..68503514-chr6:68505426..68509054,4	K562	blood:
9	chr6:68501174..68502825-chr6:68530814..68533551,2	K562	blood:
10	chr6:68498733..68500691-chr6:68575961..68578214,2	K562	blood:
11	chr6:68487893..68492102-chr6:68589175..68592601,3	K562	blood:
12	chr6:68500812..68503276-chr6:68505426..68509268,3	K562	blood:
13	chr6:68496731..68499262-chr6:68502770..68504642,2	K562	blood:

No data

Extended variants
information (count: 503 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548386292	chr6:68492223-68492224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187338246	chr6:68492235-68492236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146281353	chr6:68492241-68492242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567004934	chr6:68492315-68492316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556938089	chr6:68492382-68492383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369498791	chr6:68492397-68492398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570572389	chr6:68492402-68492403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539562019	chr6:68492422-68492423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553504732	chr6:68492426-68492427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139396240	chr6:68492439-68492440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149521186	chr6:68492445-68492446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4131870	chr6:68492448-68492449	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs376932975	chr6:68492520-68492521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555778398	chr6:68492589-68492590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117282109	chr6:68492594-68492595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192673282	chr6:68492602-68492603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4131872	chr6:68492620-68492621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs4131871	chr6:68492631-68492632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9294775	chr6:68492677-68492678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs62412319	chr6:68492685-68492686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73462660	chr6:68492700-68492701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs144040466	chr6:68492715-68492716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183708834	chr6:68492735-68492736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374967828	chr6:68492736-68492737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531510205	chr6:68492778-68492779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369664277	chr6:68492799-68492800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550528253	chr6:68492816-68492817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7749517	chr6:68492830-68492831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs148653343	chr6:68492844-68492845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538189931	chr6:68492865-68492866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113887662	chr6:68492868-68492869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112134492	chr6:68492871-68492872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566997110	chr6:68492899-68492900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535669228	chr6:68492908-68492909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555933529	chr6:68492937-68492938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376790787	chr6:68492938-68492939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575973881	chr6:68492949-68492950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572845442	chr6:68492989-68492990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201971327	chr6:68492994-68492995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201148254	chr6:68492996-68492997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146094365	chr6:68492999-68493000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112684307	chr6:68493056-68493057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78617157	chr6:68493058-68493059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539959646	chr6:68493059-68493060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193273343	chr6:68493060-68493061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558690881	chr6:68493109-68493110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7748867	chr6:68493133-68493134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs573682208	chr6:68493139-68493140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368467388	chr6:68493206-68493207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542417010	chr6:68493207-68493208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68492200-68492600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr6:68492400-68492600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr6:68492600-68494000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:68494000-68494200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:68500000-68500800	Enhancers	Fetal Brain Male	brain
6	chr6:68500600-68500800	ZNF genes & repeats	K562	blood
7	chr6:68500800-68502400	Weak transcription	K562	blood
8	chr6:68502400-68503200	Enhancers	K562	blood
9	chr6:68503200-68505400	Weak transcription	K562	blood
10	chr6:68505000-68506200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:68505200-68506000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr6:68505200-68506000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:68505200-68506000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:68505200-68506000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:68505400-68506400	Enhancers	K562	blood
16	chr6:68505600-68506000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:68506400-68508800	Weak transcription	K562	blood
18	chr6:68508800-68509600	Enhancers	K562	blood

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