Variant report

Variant	nsv1025422
Chromosome Location	chr6:140819415-140910627
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:140833959..140835825-chr6:140838892..140841501,3	K562	blood:
2	chr6:140859536..140862097-chr6:140864058..140865635,2	K562	blood:
3	chr6:140853689..140855207-chr6:140859396..140862006,2	MCF-7	breast:
4	chr6:140847082..140849517-chr6:140851014..140853336,2	K562	blood:
5	chr6:140858927..140861812-chr6:141885115..141886624,2	MCF-7	breast:
6	chr6:140874402..140877217-chr6:140878375..140880350,3	K562	blood:
7	chr6:140843664..140845926-chr6:140846487..140848219,2	MCF-7	breast:
8	chr6:140837143..140838822-chr6:140841143..140842931,2	K562	blood:
9	chr6:140905860..140907615-chr6:140923172..140925767,2	K562	blood:
10	chr6:140905427..140908857-chr6:140910975..140913769,3	K562	blood:
11	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:
12	chr6:140874402..140877217-chr6:140878375..140880350,3	K562	blood:
13	chr6:140784693..140787104-chr6:140862436..140865018,2	MCF-7	breast:
14	chr6:140859129..140859897-chr8:105520075..105520755,2	MCF-7	breast:
15	chr6:140858084..140862104-chr6:140862610..140866313,5	MCF-7	breast:
16	chr6:140858084..140862104-chr6:140862610..140866313,5	MCF-7	breast:
17	chr6:140857240..140860582-chr6:140860847..140863194,3	MCF-7	breast:
18	chr6:140833959..140835825-chr6:140838892..140841501,3	K562	blood:
19	chr6:140837143..140838822-chr6:140841143..140842931,2	K562	blood:
20	chr6:140843664..140845926-chr6:140846487..140848219,2	MCF-7	breast:
21	chr6:140807152..140810053-chr6:140862553..140864206,2	MCF-7	breast:
22	chr6:140859536..140862097-chr6:140864058..140865635,2	K562	blood:
23	chr6:140857240..140860582-chr6:140860847..140863194,3	MCF-7	breast:
24	chr6:140783571..140785606-chr6:140860300..140863164,2	MCF-7	breast:
25	chr6:140824312..140827141-chr6:140827380..140829183,2	K562	blood:
26	chr6:139694080..139696813-chr6:140857145..140860019,3	MCF-7	breast:
27	chr6:140781738..140784199-chr6:140901701..140903255,2	MCF-7	breast:
28	chr20:55766654..55769141-chr6:140857545..140859135,2	MCF-7	breast:
29	chr6:140847082..140849517-chr6:140851014..140853336,2	K562	blood:
30	chr6:140824312..140827141-chr6:140827380..140829183,2	K562	blood:
31	chr6:140762424..140765135-chr6:140858930..140861399,3	MCF-7	breast:
32	chr6:140853689..140855207-chr6:140859396..140862006,2	MCF-7	breast:
33	chr6:140773150..140776945-chr6:140859067..140862028,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 1716 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1716 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573175125	chr6:140819418-140819419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376162233	chr6:140819460-140819461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534029722	chr6:140819478-140819479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554647350	chr6:140819515-140819516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572452282	chr6:140819559-140819560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573843465	chr6:140819585-140819586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544399836	chr6:140819637-140819638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62429834	chr6:140819708-140819709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531639235	chr6:140819725-140819726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567268977	chr6:140819726-140819727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562977243	chr6:140819737-140819738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577985302	chr6:140819800-140819801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141711425	chr6:140819808-140819809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146243548	chr6:140819812-140819813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568020418	chr6:140819861-140819862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536972681	chr6:140819894-140819895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527988109	chr6:140819973-140819974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549232308	chr6:140820010-140820011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148471116	chr6:140820012-140820013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189597827	chr6:140820067-140820068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141782062	chr6:140820112-140820113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568927235	chr6:140820176-140820177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180829266	chr6:140820200-140820201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs59077226	chr6:140820261-140820262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185074010	chr6:140820344-140820345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74656711	chr6:140820356-140820357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564557086	chr6:140820374-140820375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534098217	chr6:140820425-140820426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553355314	chr6:140820433-140820434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555673828	chr6:140820436-140820437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573784795	chr6:140820452-140820453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538029978	chr6:140820521-140820522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189387907	chr6:140820550-140820551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553824750	chr6:140820690-140820691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578047481	chr6:140820696-140820697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545125178	chr6:140820716-140820717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560129581	chr6:140820774-140820775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139450599	chr6:140820779-140820780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542940248	chr6:140820789-140820790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573467012	chr6:140820815-140820816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531849270	chr6:140820823-140820824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543990196	chr6:140820847-140820848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565286203	chr6:140821003-140821004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115528156	chr6:140821006-140821007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567467458	chr6:140821091-140821092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114473381	chr6:140821112-140821113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182007974	chr6:140821142-140821143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527258452	chr6:140821219-140821220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4052825	chr6:140821237-140821238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200903526	chr6:140821238-140821239	Weak transcription	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:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140816000-140821400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:140816000-140822600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:140817000-140820000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:140820000-140820800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:140820800-140822000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:140821400-140821800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr6:140822200-140822400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:140825600-140826800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:140826000-140826400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr6:140826000-140827000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:140850800-140851400	Weak transcription	NHDF-Ad	bronchial
12	chr6:140851400-140851600	Enhancers	NHDF-Ad	bronchial
13	chr6:140854200-140855800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:140855400-140857600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:140855600-140857400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:140855600-140857800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:140855800-140857600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:140856200-140856400	Weak transcription	Psoas Muscle	Psoas
19	chr6:140856400-140856800	Active TSS	Fetal Heart	heart
20	chr6:140856400-140860200	Weak transcription	Left Ventricle	heart
21	chr6:140856600-140857000	ZNF genes & repeats	Psoas Muscle	Psoas
22	chr6:140856600-140857000	ZNF genes & repeats	Osteobl	bone
23	chr6:140856800-140858000	Weak transcription	Fetal Heart	heart
24	chr6:140857000-140857600	Weak transcription	Osteobl	bone
25	chr6:140857000-140858400	Weak transcription	Psoas Muscle	Psoas
26	chr6:140857200-140861000	Enhancers	NHLF	lung
27	chr6:140857400-140857600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:140857400-140858200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:140857600-140858200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:140857600-140858400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:140857600-140858400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:140857600-140858400	Enhancers	NHDF-Ad	bronchial
33	chr6:140857600-140858400	Enhancers	Osteobl	bone
34	chr6:140857600-140860400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:140857800-140858200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:140858000-140858800	Enhancers	Fetal Heart	heart
37	chr6:140858200-140858400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:140858200-140858400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:140858200-140858400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:140858200-140858400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr6:140858200-140858400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:140858200-140858400	Enhancers	NH-A	brain
43	chr6:140858200-140858600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:140858200-140859000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:140858200-140859000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:140858200-140860400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:140858200-140860400	Enhancers	Rectal Smooth Muscle	rectum
48	chr6:140858400-140858600	Enhancers	Brain Hippocampus Middle	brain
49	chr6:140858400-140858600	Active TSS	Stomach Smooth Muscle	stomach
50	chr6:140858400-140858600	Flanking Active TSS	A549	lung

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