Variant report

Variant	nsv885995
Chromosome Location	chr6:64914258-65050050
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:64931220..64933787-chr6:64937129..64939754,2	K562	blood:
2	chr6:64931220..64933787-chr6:64937129..64939754,2	K562	blood:
3	chr6:65006449..65008476-chr6:65012080..65014134,2	K562	blood:
4	chr6:64990450..64991143-chr6:65442394..65443437,5	MCF-7	breast:
5	chr6:64968428..64970654-chr6:64971597..64973561,2	MCF-7	breast:
6	chr6:64722104..64722842-chr6:65040545..65041404,3	MCF-7	breast:
7	chr6:64968428..64970654-chr6:64971597..64973561,2	MCF-7	breast:
8	chr6:65006449..65008476-chr6:65012080..65014134,2	K562	blood:

No data

Extended variants
information (count: 2303 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2303 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529212364	chr6:64920611-64920612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550747865	chr6:64920639-64920640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569052336	chr6:64920669-64920670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188437604	chr6:64920708-64920709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557866152	chr6:64920753-64920754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535456442	chr6:64920756-64920757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566320625	chr6:64920773-64920774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533592248	chr6:64920776-64920777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553245645	chr6:64920848-64920849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74350213	chr6:64920861-64920862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141934941	chr6:64920906-64920907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557247276	chr6:64920943-64920944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575810698	chr6:64920972-64920973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76841079	chr6:64920985-64920986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192610680	chr6:64927415-64927416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548891254	chr6:64927417-64927418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372587915	chr6:64927429-64927430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144286319	chr6:64927610-64927611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564476561	chr6:64927641-64927642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528368371	chr6:64927655-64927656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542139146	chr6:64927708-64927709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546948469	chr6:64927718-64927719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561843243	chr6:64927766-64927767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11753432	chr6:64927816-64927817	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550394070	chr6:64927817-64927818	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs568891568	chr6:64927835-64927836	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs115255328	chr6:64927841-64927842	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs373196102	chr6:64927852-64927853	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs566145055	chr6:64927866-64927867	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs534972027	chr6:64927893-64927894	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs148707182	chr6:64927956-64927957	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs114236167	chr6:64927973-64927974	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs536089235	chr6:64927995-64927996	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs142282408	chr6:64928045-64928046	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs575648401	chr6:64928058-64928059	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs546341923	chr6:64928069-64928070	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs150791100	chr6:64928106-64928107	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs116570621	chr6:64928117-64928118	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs540529680	chr6:64928143-64928144	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs199571262	chr6:64928195-64928196	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs529180832	chr6:64928203-64928204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528285708	chr6:64928238-64928239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527705013	chr6:64928257-64928258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146971198	chr6:64928259-64928260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141410233	chr6:64928261-64928262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35578860	chr6:64928262-64928263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199834102	chr6:64928263-64928264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs66833116	chr6:64928265-64928266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571716091	chr6:64928290-64928291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550700782	chr6:64928336-64928337	Enhancers	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
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Bipolar disorder	19114987	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64920600-64921000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:64927400-64927800	Enhancers	GM12878-XiMat	blood
3	chr6:64927600-64928600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:64927600-64928800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:64927600-64928800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:64927600-64929000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:64927600-64929000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr6:64927800-64928200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:64927800-64928200	Enhancers	A549	lung
10	chr6:64927800-64928200	Flanking Active TSS	GM12878-XiMat	blood
11	chr6:64927800-64929000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:64928000-64928400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:64928000-64928600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:64928000-64928800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:64928200-64929200	Enhancers	GM12878-XiMat	blood
16	chr6:64929000-64930800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:64929000-64943800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:64930800-64931400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:64931400-64931800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:64931800-64932000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:64932000-64934000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:64934000-64935400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:64934200-64935800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:64934800-64935000	Enhancers	Fetal Brain Female	brain
25	chr6:64934800-64935200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:64934800-64935200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:64934800-64935400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:64935000-64940400	Weak transcription	Fetal Brain Female	brain
29	chr6:64935800-64939600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:64939400-64939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:64939400-64939800	Enhancers	Fetal Lung	lung
32	chr6:64939400-64940000	Enhancers	Fetal Heart	heart
33	chr6:64939600-64941000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr6:64939800-64940000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:64940000-64940600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:64940400-64940600	Enhancers	Fetal Brain Female	brain
37	chr6:64940600-64940800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:64940600-64943200	Weak transcription	Fetal Brain Female	brain
39	chr6:64943800-64944000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:64943800-64944000	Enhancers	Fetal Brain Female	brain
41	chr6:64944000-64944400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:64953200-64954400	Enhancers	Hela-S3	cervix
43	chr6:64954400-64956200	Weak transcription	Hela-S3	cervix
44	chr6:64956200-64956600	Enhancers	Hela-S3	cervix
45	chr6:64956600-64957800	Weak transcription	Hela-S3	cervix
46	chr6:64957800-64960000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:64957800-64962600	Enhancers	Hela-S3	cervix
48	chr6:64958800-64959600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:64960000-64972400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:64962600-64963800	Weak transcription	Hela-S3	cervix

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