Variant report

Variant	nsv819036
Chromosome Location	chr6:143250094-143257343
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:143249811..143252673-chr6:143253263..143254814,2	MCF-7	breast:
2	chr6:143254535..143256627-chr6:143292877..143294964,2	K562	blood:
3	chr6:143240260..143242396-chr6:143249717..143252299,2	K562	blood:
4	chr6:143253291..143259371-chr6:143264304..143268146,10	MCF-7	breast:
5	chr6:143248251..143249895-chr6:143251164..143254030,2	MCF-7	breast:
6	chr6:143247603..143250539-chr6:143261242..143263408,2	K562	blood:
7	chr6:143255723..143258241-chr6:143260281..143262447,2	MCF-7	breast:
8	chr6:143249811..143252673-chr6:143253263..143254814,2	MCF-7	breast:
9	chr6:143253110..143256505-chr6:143258284..143262684,4	K562	blood:
10	chr6:143251157..143252727-chr6:143264328..143265845,2	MCF-7	breast:
11	chr6:143233908..143236486-chr6:143252754..143255346,2	MCF-7	breast:
12	chr6:143246172..143247907-chr6:143249446..143252220,3	K562	blood:
13	chr6:143246172..143248128-chr6:143249871..143252220,3	K562	blood:
14	chr6:143243073..143245473-chr6:143249094..143252352,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000010818	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553083052	chr6:143250106-143250107	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs184783777	chr6:143250127-143250128	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs113256041	chr6:143250129-143250130	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs372301576	chr6:143250152-143250153	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs576678428	chr6:143250163-143250164	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs189355031	chr6:143250169-143250170	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs569573164	chr6:143250189-143250190	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs541979556	chr6:143250195-143250196	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563767432	chr6:143250286-143250287	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs575917868	chr6:143250344-143250345	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs9376717	chr6:143250403-143250404	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs555214286	chr6:143250412-143250413	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs180938203	chr6:143250478-143250479	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs528783700	chr6:143250480-143250481	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs542898630	chr6:143250547-143250548	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs147682010	chr6:143250605-143250606	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs79984099	chr6:143250610-143250611	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs550422411	chr6:143250613-143250614	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs115581356	chr6:143250658-143250659	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs539253380	chr6:143250720-143250721	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs551159852	chr6:143250756-143250757	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs79493838	chr6:143250828-143250829	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs374142099	chr6:143251005-143251006	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs186230115	chr6:143251015-143251016	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs553359959	chr6:143251018-143251019	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574755063	chr6:143251092-143251093	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs535800327	chr6:143251114-143251115	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs6570535	chr6:143251169-143251170	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190952612	chr6:143251171-143251172	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs143154012	chr6:143251187-143251188	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs560426354	chr6:143251226-143251227	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564652723	chr6:143251259-143251260	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs151191700	chr6:143251273-143251274	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369057698	chr6:143251274-143251275	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540594251	chr6:143251287-143251288	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377196460	chr6:143251291-143251292	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369834892	chr6:143251322-143251323	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562374837	chr6:143251333-143251334	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529136098	chr6:143251386-143251387	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140408633	chr6:143251439-143251440	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550505298	chr6:143251517-143251518	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150369235	chr6:143251612-143251613	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs137887540	chr6:143251616-143251617	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551197120	chr6:143251632-143251633	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182045067	chr6:143251641-143251642	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57285276	chr6:143251650-143251651	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397961751	chr6:143251654-143251655	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533954337	chr6:143251659-143251660	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548831331	chr6:143251688-143251689	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377463689	chr6:143251742-143251743	Weak transcription Flanking Active TSS Enhancers Genic 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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143248000-143250800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:143248600-143250400	Enhancers	Fetal Heart	heart
3	chr6:143248600-143253800	Weak transcription	Small Intestine	intestine
4	chr6:143248600-143255800	Weak transcription	Aorta	Aorta
5	chr6:143248600-143255800	Weak transcription	Left Ventricle	heart
6	chr6:143248600-143255800	Weak transcription	Spleen	Spleen
7	chr6:143248600-143260600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:143248600-143265000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:143248800-143255400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:143248800-143260600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:143249000-143250200	Enhancers	Brain Cingulate Gyrus	brain
12	chr6:143249000-143251000	Flanking Active TSS	Dnd41	blood
13	chr6:143249000-143255200	Weak transcription	Stomach Mucosa	stomach
14	chr6:143249000-143263800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:143249200-143250200	Enhancers	Primary B cells from peripheral blood	blood
16	chr6:143249200-143250200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:143249200-143251200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:143249200-143251200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:143249200-143251800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:143249200-143252000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr6:143249200-143261400	Weak transcription	NH-A	brain
22	chr6:143249400-143250200	Enhancers	Primary hematopoietic stem cells	blood
23	chr6:143249400-143250200	Enhancers	Adipose Nuclei	Adipose
24	chr6:143249400-143250200	Enhancers	Liver	Liver
25	chr6:143249400-143250200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr6:143249400-143250200	Enhancers	Brain Substantia Nigra	brain
27	chr6:143249400-143250200	Enhancers	Colon Smooth Muscle	Colon
28	chr6:143249400-143250200	Enhancers	Psoas Muscle	Psoas
29	chr6:143249400-143250200	Enhancers	NHEK	skin
30	chr6:143249400-143250400	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr6:143249400-143250400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr6:143249400-143250800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:143249400-143251000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:143249400-143251000	Weak transcription	Fetal Lung	lung
35	chr6:143249400-143251200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:143249400-143251200	Weak transcription	Brain Angular Gyrus	brain
37	chr6:143249400-143251400	Enhancers	NHLF	lung
38	chr6:143249400-143251800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:143249400-143252000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:143249400-143252000	Enhancers	NHDF-Ad	bronchial
41	chr6:143249400-143253200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:143249400-143255200	Weak transcription	Brain Hippocampus Middle	brain
43	chr6:143249400-143255800	Weak transcription	Right Atrium	heart
44	chr6:143249400-143261600	Weak transcription	HSMMtube	muscle
45	chr6:143249400-143264600	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:143249600-143250200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:143249600-143250200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:143249600-143250200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:143249600-143250600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr6:143249600-143250600	Weak transcription	Osteobl	bone

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