Variant report

Variant	nsv524995
Chromosome Location	chr6:140733855-140801497
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:139694253..139696855-chr6:140760707..140763686,3	MCF-7	breast:
2	chr6:140784119..140785901-chr6:140788194..140790332,2	MCF-7	breast:
3	chr6:140784119..140785901-chr6:140788194..140790332,2	MCF-7	breast:
4	chr6:140770834..140773454-chr6:140778154..140780325,2	K562	blood:
5	chr6:140786057..140787646-chr6:140788121..140789995,2	MCF-7	breast:
6	chr6:140202585..140203697-chr6:140762103..140763026,6	MCF-7	breast:
7	chr6:140763859..140766809-chr6:140781953..140784173,2	MCF-7	breast:
8	chr6:139690498..139691306-chr6:140762196..140763003,2	MCF-7	breast:
9	chr6:140783720..140785500-chr6:140814959..140816884,2	MCF-7	breast:
10	chr6:140792430..140794846-chr6:140795298..140797502,2	K562	blood:
11	chr6:140792430..140794846-chr6:140795298..140797502,2	K562	blood:
12	chr6:140791961..140793647-chr6:140795431..140798241,2	K562	blood:
13	chr6:139694272..139697265-chr6:140755488..140757218,2	MCF-7	breast:
14	chr6:139694299..139696526-chr6:140760601..140764243,4	MCF-7	breast:
15	chr6:140784693..140787104-chr6:140862436..140865018,2	MCF-7	breast:
16	chr6:140783571..140785606-chr6:140860300..140863164,2	MCF-7	breast:
17	chr6:140763859..140766809-chr6:140781953..140784173,2	MCF-7	breast:
18	chr6:140373569..140374771-chr6:140762117..140763007,5	MCF-7	breast:
19	chr6:140425138..140426715-chr6:140748636..140750247,2	K562	blood:
20	chr6:140770834..140773454-chr6:140778154..140780325,2	K562	blood:
21	chr6:140757123..140759381-chr6:140760081..140761694,2	K562	blood:
22	chr6:139689542..139691996-chr6:140762311..140765261,2	MCF-7	breast:
23	chr6:140782673..140785251-chr6:140787404..140790151,3	K562	blood:
24	chr6:140782673..140785251-chr6:140787404..140790151,3	K562	blood:
25	chr6:140718875..140720983-chr6:140765864..140768587,2	K562	blood:
26	chr6:140784115..140786864-chr6:140789225..140791955,2	MCF-7	breast:
27	chr6:140757123..140759381-chr6:140760081..140761694,2	K562	blood:
28	chr6:140786057..140787646-chr6:140788121..140789995,2	MCF-7	breast:
29	chr6:140799634..140801226-chr6:140802849..140804634,2	K562	blood:
30	chr6:140241965..140244669-chr6:140782881..140785815,2	MCF-7	breast:
31	chr6:140791961..140793647-chr6:140795431..140798241,2	K562	blood:
32	chr6:140781738..140784199-chr6:140901701..140903255,2	MCF-7	breast:
33	chr6:140773150..140776945-chr6:140859067..140862028,3	MCF-7	breast:
34	chr6:140762424..140765135-chr6:140858930..140861399,3	MCF-7	breast:
35	chr6:140784115..140786864-chr6:140789225..140791955,2	MCF-7	breast:
36	chr6:140670786..140673738-chr6:140751539..140753328,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 2228 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2228 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1856757	chr6:140733855-140733856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114639551	chr6:140733856-140733857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35093131	chr6:140733868-140733869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73777320	chr6:140733871-140733872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554485767	chr6:140733894-140733895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572728023	chr6:140733895-140733896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543236701	chr6:140733983-140733984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555163047	chr6:140734069-140734070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77527682	chr6:140734091-140734092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573684402	chr6:140734119-140734120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375207151	chr6:140734140-140734141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144434077	chr6:140734153-140734154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146632111	chr6:140734221-140734222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34601786	chr6:140734234-140734235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548067717	chr6:140734264-140734265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544930651	chr6:140734267-140734268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141445021	chr6:140734281-140734282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568264616	chr6:140734293-140734294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530884280	chr6:140734309-140734310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80020919	chr6:140734337-140734338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548774667	chr6:140734350-140734351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567299569	chr6:140734354-140734355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182222969	chr6:140734374-140734375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538066822	chr6:140734382-140734383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186567396	chr6:140734404-140734405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144960142	chr6:140734413-140734414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539035226	chr6:140734543-140734544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554548956	chr6:140734562-140734563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145711632	chr6:140734582-140734583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539836869	chr6:140734633-140734634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9495696	chr6:140734676-140734677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191754586	chr6:140734678-140734679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4896512	chr6:140734708-140734709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs544328570	chr6:140734765-140734766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558926150	chr6:140734842-140734843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56066126	chr6:140734856-140734857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs544594035	chr6:140734867-140734868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528060592	chr6:140734931-140734932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55763383	chr6:140734946-140734947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184880852	chr6:140734950-140734951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12205549	chr6:140734969-140734970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs148120905	chr6:140735131-140735132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550298524	chr6:140735147-140735148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565228631	chr6:140735159-140735160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532612327	chr6:140735162-140735163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541373021	chr6:140735193-140735194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77442017	chr6:140735241-140735242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555652282	chr6:140735252-140735253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566052508	chr6:140735346-140735347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536962828	chr6:140735417-140735418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140729000-140754000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:140735400-140735600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:140735600-140736200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:140736200-140736800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr6:140736400-140736800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:140736400-140736800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:140736600-140737200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:140739600-140740000	Enhancers	Fetal Intestine Large	intestine
9	chr6:140739600-140740000	Enhancers	Fetal Intestine Small	intestine
10	chr6:140748000-140758800	Weak transcription	Ovary	ovary
11	chr6:140748600-140748800	Enhancers	Psoas Muscle	Psoas
12	chr6:140748800-140752800	Weak transcription	Psoas Muscle	Psoas
13	chr6:140749000-140749400	Enhancers	Placenta	Placenta
14	chr6:140749400-140751400	Weak transcription	Placenta	Placenta
15	chr6:140751400-140751600	Enhancers	Placenta	Placenta
16	chr6:140752800-140753000	Enhancers	Psoas Muscle	Psoas
17	chr6:140754000-140754400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:140754000-140755400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:140754200-140756600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr6:140754600-140756600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr6:140754800-140756600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr6:140755000-140755400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:140755000-140755400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:140755000-140755800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:140755000-140756200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:140755000-140756400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr6:140755200-140757000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:140755400-140756800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
29	chr6:140755400-140757200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:140755400-140757200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:140755400-140759400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:140755600-140755800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:140755600-140756000	Enhancers	HMEC	breast
34	chr6:140755600-140756200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:140755800-140756000	Enhancers	Osteobl	bone
36	chr6:140755800-140757200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:140755800-140758400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:140756000-140756200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr6:140756000-140757200	Weak transcription	HMEC	breast
40	chr6:140756000-140757400	Weak transcription	Osteobl	bone
41	chr6:140756200-140756400	Enhancers	Placenta	Placenta
42	chr6:140756200-140757200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr6:140756200-140758600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:140756200-140759400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:140756400-140757000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr6:140756400-140757200	Active TSS	HSMMtube	muscle
47	chr6:140756400-140757200	Weak transcription	NHDF-Ad	bronchial
48	chr6:140756400-140758200	Weak transcription	Placenta	Placenta
49	chr6:140756600-140757000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:140756600-140757000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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