Variant report

Variant	nsv463946
Chromosome Location	chr6:91710872-91769607
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:91739522..91740217-chr6:134772618..134773453,2	MCF-7	breast:
2	chr6:91735787..91738112-chr6:91738917..91741422,2	K562	blood:
3	chr6:91714508..91717263-chr6:91736929..91739504,2	K562	blood:
4	chr6:91714508..91717263-chr6:91736929..91739504,2	K562	blood:
5	chr6:91762927..91765552-chr6:91780023..91782303,2	K562	blood:
6	chr6:91735787..91738112-chr6:91738917..91741422,2	K562	blood:
7	chr6:91731593..91733343-chr6:91737969..91740775,2	K562	blood:
8	chr6:91731593..91733343-chr6:91737969..91740775,2	K562	blood:

No data

Extended variants
information (count: 719 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192024159	chr6:91720804-91720805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550058869	chr6:91720821-91720822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563980231	chr6:91720822-91720823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532821362	chr6:91720829-91720830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57834671	chr6:91720868-91720869	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569974155	chr6:91720883-91720884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182976631	chr6:91720912-91720913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547462897	chr6:91720924-91720925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187007885	chr6:91720937-91720938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191846868	chr6:91720953-91720954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569665610	chr6:91720998-91720999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148342523	chr6:91721014-91721015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556045880	chr6:91721054-91721055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575951615	chr6:91721079-91721080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73510410	chr6:91721085-91721086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558560762	chr6:91721120-91721121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572096110	chr6:91721128-91721129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138485811	chr6:91721132-91721133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200883811	chr6:91721146-91721147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201685038	chr6:91721159-91721160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533109161	chr6:91721172-91721173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111809655	chr6:91721173-91721174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1433766	chr6:91721174-91721175	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs543432245	chr6:91721176-91721177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35500152	chr6:91721187-91721188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532885114	chr6:91721197-91721198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563406307	chr6:91721238-91721239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142253720	chr6:91721246-91721247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146379601	chr6:91721273-91721274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184795331	chr6:91721274-91721275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572247216	chr6:91721283-91721284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567366794	chr6:91721284-91721285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367618204	chr6:91721314-91721315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34695513	chr6:91721350-91721351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533735420	chr6:91721417-91721418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573998317	chr6:91721418-91721419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534873425	chr6:91721565-91721566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549591702	chr6:91721596-91721597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569497980	chr6:91721597-91721598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553579271	chr6:91721729-91721730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538585432	chr6:91721771-91721772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558423230	chr6:91721772-91721773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56387467	chr6:91721854-91721855	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535026634	chr6:91721864-91721865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370995750	chr6:91721902-91721903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554631212	chr6:91721914-91721915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73510412	chr6:91721922-91721923	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs543531183	chr6:91721927-91721928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139140649	chr6:91721959-91721960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577504164	chr6:91722015-91722016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Systemic lupus erythematosus	17503323	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	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
Follicular lymphoma	17699855	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
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	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
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:91720800-91721800	Enhancers	Adipose Nuclei	Adipose
2	chr6:91720800-91722400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:91721000-91721400	Enhancers	Ovary	ovary
4	chr6:91721200-91721400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:91721400-91725000	Weak transcription	Ovary	ovary
6	chr6:91721800-91723200	Weak transcription	Adipose Nuclei	Adipose
7	chr6:91722400-91723200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:91722600-91722800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:91722800-91724000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:91723200-91723400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:91723200-91723600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:91723200-91723800	Enhancers	Adipose Nuclei	Adipose
13	chr6:91723400-91723800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:91723600-91725600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:91724000-91724600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:91724600-91725600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:91725000-91726600	Enhancers	Ovary	ovary
18	chr6:91725600-91726000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr6:91725600-91726400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:91726400-91729200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:91728400-91729200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:91729200-91729400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:91739000-91739400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:91739000-91739400	Enhancers	Brain Germinal Matrix	brain
25	chr6:91739000-91739400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr6:91739000-91739400	Enhancers	Fetal Lung	lung
27	chr6:91739400-91740200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr6:91740400-91740600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:91740600-91741600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:91740600-91741800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:91740800-91741600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:91741200-91742000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:91741200-91742000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr6:91741400-91741800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:91741600-91741800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:91741600-91742000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:91741800-91743400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:91742000-91743400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:91742000-91743600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr6:91742000-91743800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:91743400-91744600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr6:91743400-91744800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:91743400-91745000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:91743600-91744600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:91743800-91744200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr6:91743800-91744400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:91743800-91744600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr6:91744000-91744600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr6:91747000-91747200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr6:91752800-91753000	Enhancers	Fetal Kidney	kidney

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