Variant report

Variant	nsv1033519
Chromosome Location	chr6:64843989-65017528
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:65006449..65008476-chr6:65012080..65014134,2	K562	blood:
2	chr12:81340169..81340734-chr6:64895212..64895734,2	MCF-7	breast:
3	chr6:64968428..64970654-chr6:64971597..64973561,2	MCF-7	breast:
4	chr20:46132660..46133356-chr6:64886601..64887388,2	MCF-7	breast:
5	chr6:64825086..64826621-chr6:64878332..64879949,2	K562	blood:
6	chr6:64990450..64991143-chr6:65442394..65443437,5	MCF-7	breast:
7	chr6:65006449..65008476-chr6:65012080..65014134,2	K562	blood:
8	chr6:64898967..64901155-chr6:64903465..64905780,2	K562	blood:
9	chr6:64898967..64901155-chr6:64903465..64905780,2	K562	blood:
10	chr6:64931220..64933787-chr6:64937129..64939754,2	K562	blood:
11	chr6:64968428..64970654-chr6:64971597..64973561,2	MCF-7	breast:
12	chr6:64931220..64933787-chr6:64937129..64939754,2	K562	blood:

No data

Extended variants
information (count: 3313 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:3313 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7748356	chr6:64848002-64848003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375478007	chr6:64848092-64848093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540012930	chr6:64848102-64848103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183627911	chr6:64848107-64848108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528917734	chr6:64848173-64848174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143199683	chr6:64848205-64848206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112232582	chr6:64848298-64848299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532971871	chr6:64848379-64848380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565466830	chr6:64848380-64848381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147821961	chr6:64848385-64848386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141385005	chr6:64848410-64848411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542252227	chr6:64848423-64848424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146944999	chr6:64848428-64848429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553555247	chr6:64848440-64848441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568679253	chr6:64848469-64848470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138023244	chr6:64848513-64848514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs61693709	chr6:64848556-64848557	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs558163477	chr6:64848560-64848561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575525463	chr6:64848561-64848562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs60468823	chr6:64848606-64848607	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs79533241	chr6:64848636-64848637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572756879	chr6:64848680-64848681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374494245	chr6:64848692-64848693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540147892	chr6:64848704-64848705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561538556	chr6:64848812-64848813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186881829	chr6:64848830-64848831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543882407	chr6:64848840-64848841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9294396	chr6:64848881-64848882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs3003676	chr6:64848892-64848893	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs11969035	chr6:64848895-64848896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565448962	chr6:64848948-64848949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77340639	chr6:64853039-64853040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543531293	chr6:64853040-64853041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs3013167	chr6:64853069-64853070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187795564	chr6:64853144-64853145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541409845	chr6:64853160-64853161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559790303	chr6:64853173-64853174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192191237	chr6:64853210-64853211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76146471	chr6:64853225-64853226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374356361	chr6:64853235-64853236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397887584	chr6:64853250-64853251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75872736	chr6:64853273-64853274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs398001814	chr6:64853274-64853275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs71570665	chr6:64853278-64853279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71551563	chr6:64853283-64853284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542149953	chr6:64853284-64853285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71551564	chr6:64853290-64853291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561000290	chr6:64853303-64853304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528174167	chr6:64853318-64853319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563336628	chr6:64853330-64853331	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64848000-64849000	Enhancers	Fetal Heart	heart
2	chr6:64853000-64854600	Enhancers	Fetal Intestine Small	intestine
3	chr6:64853400-64854800	Enhancers	Fetal Intestine Large	intestine
4	chr6:64853800-64854200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:64854200-64859000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:64854800-64856400	Weak transcription	Fetal Intestine Large	intestine
7	chr6:64855600-64856600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:64855800-64857000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:64855800-64857000	Enhancers	HMEC	breast
10	chr6:64856000-64856600	Enhancers	NHEK	skin
11	chr6:64856400-64857600	Enhancers	Fetal Intestine Large	intestine
12	chr6:64859000-64860000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:64859000-64860200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:64862400-64863400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:64862600-64863200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:64863200-64869600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:64863400-64865000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:64864800-64865400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:64865000-64865600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:64865600-64869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:64867400-64867600	Enhancers	Gastric	stomach
22	chr6:64867400-64868000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:64869600-64871400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:64869800-64871600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:64879600-64880600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:64879800-64880600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:64880200-64881000	Enhancers	Fetal Lung	lung
28	chr6:64880600-64885200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:64880600-64885200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:64885200-64885800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:64885200-64886000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:64895800-64896400	Enhancers	Fetal Lung	lung
33	chr6:64896400-64897000	Flanking Active TSS	Fetal Lung	lung
34	chr6:64897000-64897800	Enhancers	Fetal Lung	lung
35	chr6:64920600-64921000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:64927400-64927800	Enhancers	GM12878-XiMat	blood
37	chr6:64927600-64928600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:64927600-64928800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:64927600-64928800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:64927600-64929000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:64927600-64929000	Enhancers	Placenta Amnion	Placenta Amnion
42	chr6:64927800-64928200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:64927800-64928200	Enhancers	A549	lung
44	chr6:64927800-64928200	Flanking Active TSS	GM12878-XiMat	blood
45	chr6:64927800-64929000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:64928000-64928400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr6:64928000-64928600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:64928000-64928800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:64928200-64929200	Enhancers	GM12878-XiMat	blood
50	chr6:64929000-64930800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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