Variant report

Variant	nsv1024891
Chromosome Location	chr6:141988466-142074315
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

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

No data

Extended variants
information (count: 634 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:634 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1338103	chr6:141988466-141988467	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553520864	chr6:141988531-141988532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188926663	chr6:141988551-141988552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147167192	chr6:141988570-141988571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182020388	chr6:141988602-141988603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576186590	chr6:141988610-141988611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543609907	chr6:141988612-141988613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368259642	chr6:141988614-141988615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565374919	chr6:141988712-141988713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187108869	chr6:141988756-141988757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140040834	chr6:141988827-141988828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575474181	chr6:141988853-141988854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189642371	chr6:141989000-141989001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559517545	chr6:141989006-141989007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145598109	chr6:141989057-141989058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9376643	chr6:141989114-141989115	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs151115201	chr6:141989115-141989116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115554564	chr6:141989133-141989134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549758273	chr6:141989144-141989145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111624088	chr6:141989172-141989173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571310941	chr6:141989297-141989298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538382439	chr6:141989336-141989337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9484541	chr6:141989348-141989349	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564678900	chr6:141989518-141989519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117036782	chr6:141989536-141989537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115069379	chr6:141989569-141989570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576372303	chr6:141989575-141989576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77381094	chr6:141989622-141989623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558917587	chr6:141989624-141989625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs180821806	chr6:141989667-141989668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541140195	chr6:141989735-141989736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559815926	chr6:141989758-141989759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185918252	chr6:141989765-141989766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542247996	chr6:141989794-141989795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34592545	chr6:141989802-141989803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113298771	chr6:141989814-141989815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531677797	chr6:141989823-141989824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73777235	chr6:141989914-141989915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528106685	chr6:141989948-141989949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140013708	chr6:141989993-141989994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532352395	chr6:141990009-141990010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547135487	chr6:141990078-141990079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565438148	chr6:141990148-141990149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190123852	chr6:141990155-141990156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547820637	chr6:141990165-141990166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371154633	chr6:141990169-141990170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149767099	chr6:141990183-141990184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182436195	chr6:141990191-141990192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185927663	chr6:141990210-141990211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535232953	chr6:141990216-141990217	Enhancers	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141987200-141989200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:141987400-141988600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:141988400-141989600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:141988400-141989800	Enhancers	HMEC	breast
5	chr6:141988400-141989800	Enhancers	NHEK	skin
6	chr6:141988400-141990400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:141988600-141989400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:141988600-141989400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:141988600-141990000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:141988600-141990000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:141988800-141989600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:141988800-141989600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:141988800-141989600	Enhancers	Fetal Heart	heart
14	chr6:141988800-141989800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:141988800-141989800	Enhancers	Left Ventricle	heart
16	chr6:141988800-141989800	Enhancers	Right Ventricle	heart
17	chr6:141988800-141990200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr6:141989000-141989400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:141989000-141989800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr6:141989000-141990400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:141989400-141989600	Enhancers	Fetal Muscle Trunk	muscle
22	chr6:141989400-141989800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:141989600-141990400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:141996800-141997200	Enhancers	Fetal Heart	heart
25	chr6:141997400-141997600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:141997600-141999000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:141998200-141998400	Enhancers	Adipose Nuclei	Adipose
28	chr6:141999000-141999200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:141999000-141999200	Enhancers	Adipose Nuclei	Adipose
30	chr6:141999000-141999200	Enhancers	NHDF-Ad	bronchial
31	chr6:141999000-141999400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:141999200-142006000	Weak transcription	NHDF-Ad	bronchial
33	chr6:142002000-142002400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:142003400-142003800	Enhancers	Osteobl	bone
35	chr6:142022000-142022400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:142022000-142022400	Enhancers	Colon Smooth Muscle	Colon
37	chr6:142022000-142022600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:142025400-142026000	Enhancers	Brain Germinal Matrix	brain
39	chr6:142026200-142026600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:142031600-142032000	Enhancers	Liver	Liver
41	chr6:142047200-142047400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:142047200-142047800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:142047200-142048000	Enhancers	Fetal Muscle Leg	muscle
44	chr6:142047200-142048000	Enhancers	HSMM	muscle
45	chr6:142047200-142048000	Enhancers	Osteobl	bone
46	chr6:142047400-142047600	Enhancers	Psoas Muscle	Psoas
47	chr6:142047400-142047600	Enhancers	NHDF-Ad	bronchial
48	chr6:142047400-142047800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:142047400-142047800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:142047400-142047800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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