Variant report

Variant	nsv538457
Chromosome Location	chr6:141972503-142101658
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:141998840..141999399-chr6:142365802..142366506,2	MCF-7	breast:
2	chr6:142037919..142039728-chr6:142043594..142045386,2	K562	blood:
3	chr6:141998651..141999214-chr6:142310161..142310947,2	MCF-7	breast:
4	chr6:142050849..142053008-chr6:142057851..142059838,2	MCF-7	breast:
5	chr6:141998460..141999421-chr6:142110108..142110780,4	MCF-7	breast:
6	chr6:142009509..142011064-chr6:142029041..142031372,2	K562	blood:
7	chr6:141980585..141982447-chr6:141983918..141986219,2	K562	blood:
8	chr6:142050849..142053008-chr6:142057851..142059838,2	MCF-7	breast:
9	chr6:142046394..142048576-chr6:142051294..142053938,2	K562	blood:
10	chr6:142043541..142046189-chr6:142046868..142049231,2	K562	blood:
11	chr6:142049775..142053768-chr6:142054988..142057417,3	K562	blood:
12	chr6:142009509..142011064-chr6:142029041..142031372,2	K562	blood:
13	chr6:142046394..142048576-chr6:142051294..142053938,2	K562	blood:
14	chr6:141980585..141982447-chr6:141983918..141986219,2	K562	blood:
15	chr6:141996747..141997654-chr6:142433323..142434142,3	MCF-7	breast:
16	chr6:142049775..142053768-chr6:142054988..142057417,3	K562	blood:
17	chr6:142037919..142039728-chr6:142043594..142045386,2	K562	blood:
18	chr6:142052857..142055302-chr6:142056890..142059769,2	K562	blood:
19	chr6:141998374..141999368-chr6:142433353..142434249,2	MCF-7	breast:
20	chr6:141931693..141932316-chr6:141996864..141997483,2	MCF-7	breast:
21	chr6:142052857..142055302-chr6:142056890..142059769,2	K562	blood:
22	chr6:141998709..141999469-chr6:142433501..142434128,2	K562	blood:
23	chr6:141998099..141999007-chr6:142433461..142433965,2	MCF-7	breast:
24	chr6:142043541..142046189-chr6:142046868..142049231,2	K562	blood:

No data

Extended variants
information (count: 1627 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1627 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149681348	chr6:141979649-141979650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577816893	chr6:141979707-141979708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545020092	chr6:141979762-141979763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114299114	chr6:141979780-141979781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572635507	chr6:141979801-141979802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375986937	chr6:141979850-141979851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543277380	chr6:141979917-141979918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373866112	chr6:141979938-141979939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531749164	chr6:141979940-141979941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145513404	chr6:141979941-141979942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565032781	chr6:141979957-141979958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532507921	chr6:141979966-141979967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190040183	chr6:141980027-141980028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566096911	chr6:141980048-141980049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536274190	chr6:141980107-141980108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549227472	chr6:141980123-141980124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567577348	chr6:141980125-141980126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569597866	chr6:141980127-141980128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181595638	chr6:141984955-141984956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12208890	chr6:141984984-141984985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574565624	chr6:141985007-141985008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142574153	chr6:141985019-141985020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76253301	chr6:141985091-141985092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576414814	chr6:141985117-141985118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528916629	chr6:141985160-141985161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551259223	chr6:141985212-141985213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185926112	chr6:141985229-141985230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189470779	chr6:141985239-141985240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181827479	chr6:141985240-141985241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557064706	chr6:141985295-141985296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566845375	chr6:141985298-141985299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534338429	chr6:141985319-141985320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576820589	chr6:141985339-141985340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555455735	chr6:141985360-141985361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185363395	chr6:141985380-141985381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190718545	chr6:141985515-141985516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562957493	chr6:141985558-141985559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559328253	chr6:141985567-141985568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556796995	chr6:141985619-141985620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114631819	chr6:141985652-141985653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183378515	chr6:141985653-141985654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545320549	chr6:141985709-141985710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573444889	chr6:141985743-141985744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572827615	chr6:141985774-141985775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114156670	chr6:141985793-141985794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561780484	chr6:141985835-141985836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528851120	chr6:141985843-141985844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146028630	chr6:141985849-141985850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563175020	chr6:141985904-141985905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186333035	chr6:141985948-141985949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141979600-141980200	Enhancers	NHEK	skin
2	chr6:141984800-141986600	Weak transcription	Psoas Muscle	Psoas
3	chr6:141986600-141986800	Enhancers	Psoas Muscle	Psoas
4	chr6:141987000-141987200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:141987000-141987800	Enhancers	Liver	Liver
6	chr6:141987200-141989200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:141987400-141988600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:141988400-141989600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:141988400-141989800	Enhancers	HMEC	breast
10	chr6:141988400-141989800	Enhancers	NHEK	skin
11	chr6:141988400-141990400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr6:141988600-141989400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:141988600-141989400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:141988600-141990000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:141988600-141990000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:141988800-141989600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:141988800-141989600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:141988800-141989600	Enhancers	Fetal Heart	heart
19	chr6:141988800-141989800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:141988800-141989800	Enhancers	Left Ventricle	heart
21	chr6:141988800-141989800	Enhancers	Right Ventricle	heart
22	chr6:141988800-141990200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr6:141989000-141989400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:141989000-141989800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr6:141989000-141990400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:141989400-141989600	Enhancers	Fetal Muscle Trunk	muscle
27	chr6:141989400-141989800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:141989600-141990400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:141996800-141997200	Enhancers	Fetal Heart	heart
30	chr6:141997400-141997600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:141997600-141999000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:141998200-141998400	Enhancers	Adipose Nuclei	Adipose
33	chr6:141999000-141999200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:141999000-141999200	Enhancers	Adipose Nuclei	Adipose
35	chr6:141999000-141999200	Enhancers	NHDF-Ad	bronchial
36	chr6:141999000-141999400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:141999200-142006000	Weak transcription	NHDF-Ad	bronchial
38	chr6:142002000-142002400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:142003400-142003800	Enhancers	Osteobl	bone
40	chr6:142022000-142022400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:142022000-142022400	Enhancers	Colon Smooth Muscle	Colon
42	chr6:142022000-142022600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:142025400-142026000	Enhancers	Brain Germinal Matrix	brain
44	chr6:142026200-142026600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:142031600-142032000	Enhancers	Liver	Liver
46	chr6:142047200-142047400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:142047200-142047800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr6:142047200-142048000	Enhancers	Fetal Muscle Leg	muscle
49	chr6:142047200-142048000	Enhancers	HSMM	muscle
50	chr6:142047200-142048000	Enhancers	Osteobl	bone

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