Variant report

Variant	nsv521710
Chromosome Location	chr6:140876027-140968292
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:1)
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	chr6:140905427..140908857-chr6:140910975..140913769,3	K562	blood:
2	chr6:140912649..140915188-chr6:140915453..140918177,2	K562	blood:
3	chr6:140919683..140922477-chr6:140922951..140925065,2	K562	blood:
4	chr6:140905860..140907615-chr6:140923172..140925767,2	K562	blood:
5	chr6:140905860..140907615-chr6:140923172..140925767,2	K562	blood:
6	chr6:140874402..140877217-chr6:140878375..140880350,3	K562	blood:
7	chr6:140874402..140877217-chr6:140878375..140880350,3	K562	blood:
8	chr6:140905427..140908857-chr6:140910975..140913769,3	K562	blood:
9	chr6:140919683..140922477-chr6:140922951..140925065,2	K562	blood:
10	chr6:140919169..140921783-chr6:140922844..140925130,2	MCF-7	breast:
11	chr6:140919169..140921783-chr6:140922844..140925130,2	MCF-7	breast:
12	chr6:140781738..140784199-chr6:140901701..140903255,2	MCF-7	breast:
13	chr6:140912649..140915188-chr6:140915453..140918177,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HECA-10	chr6:140928455-140928491	l_3279_chr6:140928454-140973185_placenta

No data

Extended variants
information (count: 2721 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2721 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13196829	chr6:140876027-140876028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141244608	chr6:140876051-140876052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189896336	chr6:140876095-140876096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182612024	chr6:140876105-140876106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537369789	chr6:140876157-140876158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527404043	chr6:140876158-140876159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145044638	chr6:140876170-140876171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570635771	chr6:140876186-140876187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533287035	chr6:140881242-140881243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544798565	chr6:140881243-140881244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185070066	chr6:140881248-140881249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572285882	chr6:140881281-140881282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542581612	chr6:140881301-140881302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112540624	chr6:140881330-140881331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531226254	chr6:140881334-140881335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138945697	chr6:140881346-140881347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142682595	chr6:140881378-140881379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186835625	chr6:140881379-140881380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372362520	chr6:140881433-140881434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs80327293	chr6:140881464-140881465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533006079	chr6:140881480-140881481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11961093	chr6:140881575-140881576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530725539	chr6:140881596-140881597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548002117	chr6:140881624-140881625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566311598	chr6:140881643-140881644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192128340	chr6:140881666-140881667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530398596	chr6:140881669-140881670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548616654	chr6:140881736-140881737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569993657	chr6:140881749-140881750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184244070	chr6:140881773-140881774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188856747	chr6:140881777-140881778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535337660	chr6:140881803-140881804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182531693	chr6:140881818-140881819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200999156	chr6:140881826-140881827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35653405	chr6:140881835-140881836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534823941	chr6:140881841-140881842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185520186	chr6:140881849-140881850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569263092	chr6:140881850-140881851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs36050152	chr6:140881859-140881860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572166628	chr6:140881907-140881908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs137962585	chr6:140881967-140881968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189656024	chr6:140881974-140881975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149482243	chr6:140881986-140881987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143984183	chr6:140881999-140882000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368377621	chr6:140882056-140882057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9495764	chr6:140882108-140882109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs564915460	chr6:140882116-140882117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375679621	chr6:140882128-140882129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557753542	chr6:140882137-140882138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532230189	chr6:140882174-140882175	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Gastric cancer	17908304	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
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
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140875400-140876200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr6:140875400-140876200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:140875400-140876200	Enhancers	HMEC	breast
4	chr6:140875400-140876200	Enhancers	NHEK	skin
5	chr6:140875600-140876200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:140881200-140881800	Enhancers	HSMM	muscle
7	chr6:140881800-140883800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:140883200-140883400	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr6:140883800-140887600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:140885400-140887000	Weak transcription	NHDF-Ad	bronchial
11	chr6:140886400-140886800	Enhancers	HSMMtube	muscle
12	chr6:140886600-140886800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:140886600-140887600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:140886800-140887000	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr6:140886800-140887200	Weak transcription	HSMMtube	muscle
16	chr6:140887000-140887400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:140887000-140888200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:140887000-140888800	Enhancers	Adipose Nuclei	Adipose
19	chr6:140887000-140888800	Enhancers	NHDF-Ad	bronchial
20	chr6:140887000-140889000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:140887000-140889000	Enhancers	Fetal Heart	heart
22	chr6:140887000-140889000	Enhancers	HUVEC	blood vessel
23	chr6:140887000-140889200	Enhancers	Osteobl	bone
24	chr6:140887000-140889400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:140887200-140888200	Enhancers	HSMMtube	muscle
26	chr6:140887400-140887800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:140887400-140888000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:140887400-140888200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:140887400-140889000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:140887400-140889000	Enhancers	Rectal Smooth Muscle	rectum
31	chr6:140887400-140889200	Enhancers	Hela-S3	cervix
32	chr6:140887400-140889200	Enhancers	HSMM	muscle
33	chr6:140887600-140888400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr6:140887600-140888400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:140887600-140888400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:140887600-140888400	Enhancers	HMEC	breast
37	chr6:140887600-140888800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:140887600-140888800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:140887600-140888800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:140887600-140888800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:140887600-140888800	Enhancers	Colon Smooth Muscle	Colon
42	chr6:140887600-140888800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr6:140887600-140888800	Enhancers	NH-A	brain
44	chr6:140887600-140888800	Enhancers	NHLF	lung
45	chr6:140887800-140888800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr6:140888000-140888400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:140888000-140888400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:140888000-140888400	Enhancers	Fetal Kidney	kidney
49	chr6:140888000-140888400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr6:140888000-140888400	Enhancers	K562	blood

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