Variant report

Variant	nsv526130
Chromosome Location	chr6:69851816-69922327
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:69859676..69862637-chr6:69865151..69866904,3	K562	blood:
2	chr6:69549740..69550662-chr6:69865141..69865963,2	MCF-7	breast:
3	chr6:69887408..69889888-chr6:69893862..69895368,2	K562	blood:
4	chr6:69861062..69862637-chr6:69865151..69866778,2	K562	blood:
5	chr6:69910768..69912301-chr6:69927077..69929055,2	K562	blood:
6	chr6:69861062..69862637-chr6:69865151..69866778,2	K562	blood:
7	chr6:69859676..69862637-chr6:69865151..69866904,3	K562	blood:
8	chr6:69587193..69588031-chr6:69865072..69865822,2	MCF-7	breast:
9	chr6:69887408..69889888-chr6:69893862..69895368,2	K562	blood:

No data

Extended variants
information (count: 2401 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2401 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1912988	chr6:69851816-69851817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182283153	chr6:69851831-69851832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1912987	chr6:69851870-69851871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs550445194	chr6:69851924-69851925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186605046	chr6:69852026-69852027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141094545	chr6:69852117-69852118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553015751	chr6:69852223-69852224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs552092951	chr6:69852264-69852265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs572842323	chr6:69852275-69852276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs572403481	chr6:69852289-69852290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs535771562	chr6:69852341-69852342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs191845196	chr6:69852349-69852350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs183261854	chr6:69852423-69852424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs544390264	chr6:69852429-69852430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs564078968	chr6:69852482-69852483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs187794567	chr6:69852564-69852565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs146925900	chr6:69852570-69852571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs375237140	chr6:69852589-69852590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs144584153	chr6:69853413-69853414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371061215	chr6:69853490-69853491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533545123	chr6:69853548-69853549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546758079	chr6:69853564-69853565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9446099	chr6:69853618-69853619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561276698	chr6:69853627-69853628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528933611	chr6:69853656-69853657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192477876	chr6:69853664-69853665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183948033	chr6:69853681-69853682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538161167	chr6:69853693-69853694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111409914	chr6:69853707-69853708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529705212	chr6:69853724-69853725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9363987	chr6:69853730-69853731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569743658	chr6:69853735-69853736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs314219	chr6:69853741-69853742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs368091159	chr6:69853765-69853766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533731862	chr6:69853771-69853772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113466285	chr6:69853839-69853840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573007023	chr6:69853840-69853841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541918252	chr6:69853870-69853871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188286643	chr6:69853913-69853914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575523459	chr6:69853917-69853918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180695632	chr6:69853930-69853931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186583088	chr6:69853954-69853955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56199922	chr6:69853964-69853965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs577638717	chr6:69854037-69854038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146057527	chr6:69854092-69854093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528997405	chr6:69854155-69854156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533899870	chr6:69854159-69854160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34238483	chr6:69854167-69854168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548773414	chr6:69854226-69854227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113766001	chr6:69854234-69854235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Acute lymphoblastic leukemia	21098271	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69850000-69852200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:69852200-69852600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr6:69853400-69855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:69853800-69855000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:69854800-69856200	ZNF genes & repeats	Fetal Lung	lung
6	chr6:69854800-69856600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr6:69855000-69855200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:69855000-69855200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:69855000-69856400	ZNF genes & repeats	Brain Angular Gyrus	brain
10	chr6:69855000-69856600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:69855000-69856600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:69855000-69856600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:69855200-69857400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:69855400-69856400	ZNF genes & repeats	Fetal Brain Female	brain
15	chr6:69856200-69859600	Weak transcription	Fetal Lung	lung
16	chr6:69856400-69861600	Weak transcription	Fetal Brain Female	brain
17	chr6:69856400-69874000	Weak transcription	Brain Angular Gyrus	brain
18	chr6:69858200-69860400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:69859600-69860400	Strong transcription	Fetal Lung	lung
20	chr6:69860400-69860800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr6:69860400-69862000	Weak transcription	Fetal Lung	lung
22	chr6:69860800-69876200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:69864400-69864600	Enhancers	K562	blood
24	chr6:69865000-69866000	Weak transcription	K562	blood
25	chr6:69866000-69866600	Enhancers	K562	blood
26	chr6:69869600-69872400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:69872400-69873200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:69872600-69875200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:69872800-69873000	Enhancers	Brain Anterior Caudate	brain
30	chr6:69872800-69873600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:69872800-69875400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr6:69873000-69874000	Weak transcription	Brain Anterior Caudate	brain
33	chr6:69873400-69875200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr6:69873600-69873800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr6:69873600-69874600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:69873600-69874800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr6:69873600-69874800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:69873600-69875200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:69873800-69874000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:69873800-69875400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr6:69874000-69874200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr6:69874000-69874200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr6:69874000-69874600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:69874000-69874600	Enhancers	Brain Angular Gyrus	brain
45	chr6:69874000-69874600	Enhancers	Brain Anterior Caudate	brain
46	chr6:69874000-69874800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr6:69874000-69874800	Enhancers	Right Ventricle	heart
48	chr6:69874200-69874800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr6:69874200-69877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:69874400-69875000	Enhancers	Brain Substantia Nigra	brain

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