Variant report

Variant	nsv886443
Chromosome Location	chr6:100129959-100231048
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:2)
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	chr6:100036208..100037176-chr6:100194325..100194870,2	MCF-7	breast:
2	chr6:99777018..99778260-chr6:100193819..100194864,5	K562	blood:
3	chr6:100129099..100131664-chr6:100134092..100136353,2	K562	blood:
4	chr6:100208776..100211504-chr6:100213680..100216754,3	K562	blood:
5	chr6:100051321..100053116-chr6:100133794..100136469,2	K562	blood:
6	chr6:99915110..99915926-chr6:100183980..100184607,3	MCF-7	breast:
7	chr6:99968831..99969601-chr6:100193945..100194805,2	MCF-7	breast:
8	chr6:100129099..100131664-chr6:100134092..100136353,2	K562	blood:
9	chr6:100181497..100183430-chr6:100186976..100188691,2	K562	blood:
10	chr6:99915329..99916063-chr6:100193862..100194796,2	K562	blood:
11	chr6:100036266..100037491-chr6:100193890..100194876,6	MCF-7	breast:
12	chr6:100125160..100127928-chr6:100129086..100131061,2	K562	blood:
13	chr6:100208776..100211504-chr6:100213680..100216754,3	K562	blood:
14	chr6:100181497..100183430-chr6:100186976..100188691,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCNC-3	chr6:100158705-100158944	uc_201_-
2	lnc-PRDM13-8	chr6:100158705-100158944	uc_201_+

No data

Extended variants
information (count: 513 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs503649	chr6:100129959-100129960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560311759	chr6:100129998-100129999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35759783	chr6:100130019-100130020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552798261	chr6:100130044-100130045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570774406	chr6:100130049-100130050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538212742	chr6:100130105-100130106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2220793	chr6:100130106-100130107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs370181395	chr6:100130154-100130155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187719637	chr6:100130168-100130169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553234446	chr6:100130242-100130243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150326530	chr6:100130244-100130245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200856623	chr6:100130245-100130246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554804865	chr6:100130272-100130273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573033437	chr6:100130278-100130279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192528372	chr6:100130527-100130528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185871773	chr6:100130531-100130532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189927701	chr6:100130539-100130540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544230404	chr6:100130550-100130551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538966966	chr6:100130615-100130616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371243595	chr6:100130710-100130711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562336499	chr6:100130716-100130717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193182749	chr6:100130720-100130721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9484175	chr6:100130777-100130778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371408823	chr6:100130785-100130786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560326282	chr6:100130800-100130801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527847630	chr6:100130851-100130852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77056623	chr6:100130889-100130890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78123242	chr6:100130911-100130912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184641645	chr6:100130978-100130979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs472977	chr6:100130991-100130992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs556919453	chr6:100130997-100130998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531901161	chr6:100131085-100131086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188609935	chr6:100131100-100131101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111880671	chr6:100131102-100131103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75558471	chr6:100131108-100131109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547876864	chr6:100131110-100131111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566694636	chr6:100131115-100131116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534019851	chr6:100131122-100131123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558455539	chr6:100131123-100131124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs494401	chr6:100131160-100131161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs537748536	chr6:100131191-100131192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9495145	chr6:100131219-100131220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185097899	chr6:100131223-100131224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541543847	chr6:100131236-100131237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74348154	chr6:100131281-100131282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188348232	chr6:100131306-100131307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546416329	chr6:100131307-100131308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181853809	chr6:100131308-100131309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187605942	chr6:100131356-100131357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191481229	chr6:100131362-100131363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
Developmental delay	21147756	CNVD
Schizophrenia	23813976	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100127200-100131400	Weak transcription	Fetal Brain Male	brain
2	chr6:100159200-100159800	Enhancers	K562	blood
3	chr6:100160000-100160200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:100160000-100160600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr6:100160400-100160800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr6:100187200-100187600	Enhancers	Fetal Muscle Leg	muscle
7	chr6:100187400-100188000	Enhancers	Fetal Brain Female	brain
8	chr6:100187400-100188200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:100187600-100188200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr6:100188000-100188200	Enhancers	Fetal Brain Male	brain
11	chr6:100191600-100191800	Enhancers	HSMMtube	muscle
12	chr6:100192000-100192800	Weak transcription	HSMMtube	muscle
13	chr6:100192800-100193400	Enhancers	HSMMtube	muscle
14	chr6:100192800-100194400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:100193000-100193800	Enhancers	HSMM	muscle
16	chr6:100193200-100194200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr6:100193200-100194200	Enhancers	Hela-S3	cervix
18	chr6:100193200-100194400	Enhancers	NHEK	skin
19	chr6:100193400-100193600	Flanking Active TSS	HSMMtube	muscle
20	chr6:100193400-100194200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:100193400-100194400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:100193600-100193800	Enhancers	HSMMtube	muscle
23	chr6:100193600-100194000	Enhancers	Fetal Heart	heart
24	chr6:100193600-100194000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr6:100193600-100194000	Enhancers	NH-A	brain
26	chr6:100193600-100194600	Enhancers	HMEC	breast
27	chr6:100193800-100194000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:100193800-100194000	Flanking Active TSS	HSMMtube	muscle
29	chr6:100193800-100194200	Flanking Active TSS	HSMM	muscle
30	chr6:100193800-100194200	Enhancers	Osteobl	bone
31	chr6:100193800-100194400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:100194000-100194200	Active TSS	HSMMtube	muscle
33	chr6:100194200-100194600	Enhancers	HSMM	muscle
34	chr6:100194400-100194600	Enhancers	Brain Angular Gyrus	brain
35	chr6:100194400-100194600	Bivalent Enhancer	Fetal Kidney	kidney
36	chr6:100199800-100200200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:100208400-100209600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:100209600-100210000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:100209600-100210200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr6:100210000-100210200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:100210000-100210400	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr6:100210200-100213200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:100213200-100214000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:100227600-100227800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:100227800-100228000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:100228000-100228200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:100229600-100230200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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