Variant report

Variant	nsv1020697
Chromosome Location	chr6:87529381-87598692
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:13)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:87533978..87535623-chr6:87543693..87545877,2	K562	blood:
2	chr6:87569023..87569900-chr6:87646597..87647139,2	MCF-7	breast:
3	chr6:87565888..87566776-chr6:87646668..87647203,2	MCF-7	breast:
4	chr6:87569162..87570137-chr6:87646249..87647415,7	MCF-7	breast:
5	chr6:87570712..87571662-chr6:87646445..87647351,6	MCF-7	breast:
6	chr17:59694281..59694801-chr6:87560393..87561118,2	MCF-7	breast:
7	chr6:87533978..87535623-chr6:87543693..87545877,2	K562	blood:
8	chr6:87570969..87571590-chr6:87646510..87647169,2	MCF-7	breast:
9	chr6:87566606..87567119-chr6:87739226..87739851,2	MCF-7	breast:
10	chr6:87569230..87570355-chr6:87738909..87740054,4	MCF-7	breast:
11	chr6:86463941..86466706-chr6:87565460..87567312,2	MCF-7	breast:
12	chr6:87491790..87492456-chr6:87566446..87567164,4	MCF-7	breast:
13	chr6:87569382..87569938-chr6:87739160..87740006,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CGA-5	chr6:87540309-87542399	NONHSAT113886
2	lnc-CGA-5	chr6:87548088-87548191	NONHSAT113886
3	lnc-CGA-5	chr6:87547915-87548191	NONHSAT113887

No data

Variant related genes	Relation type
ENSG00000168830	chromatin interactions

Extended variants
information (count: 1357 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1357 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73751743	chr6:87534610-87534611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372010291	chr6:87534613-87534614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548871144	chr6:87534650-87534651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139895751	chr6:87534702-87534703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530521136	chr6:87534709-87534710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62439104	chr6:87534745-87534746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375073357	chr6:87534761-87534762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570196321	chr6:87534827-87534828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184020239	chr6:87534828-87534829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188700422	chr6:87534835-87534836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369093693	chr6:87534857-87534858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113183031	chr6:87534905-87534906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368307276	chr6:87535010-87535011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557219360	chr6:87535039-87535040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372225291	chr6:87535080-87535081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146203597	chr6:87535081-87535082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373047735	chr6:87535105-87535106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148406717	chr6:87535128-87535129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557060150	chr6:87535131-87535132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573642280	chr6:87535181-87535182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192693194	chr6:87535188-87535189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577386508	chr6:87535290-87535291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542838282	chr6:87535333-87535334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76612323	chr6:87535355-87535356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs151123921	chr6:87535372-87535373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185388650	chr6:87535407-87535408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542102047	chr6:87535408-87535409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572658582	chr6:87535415-87535416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189917318	chr6:87535465-87535466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564952384	chr6:87535469-87535470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139982568	chr6:87535473-87535474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182441425	chr6:87535508-87535509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79014182	chr6:87535536-87535537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372413018	chr6:87535556-87535557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201356284	chr6:87535577-87535578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530447480	chr6:87535583-87535584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34660200	chr6:87535584-87535585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187061898	chr6:87535585-87535586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549650658	chr6:87535586-87535587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568110071	chr6:87535588-87535589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371464620	chr6:87535619-87535620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567953830	chr6:87535620-87535621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377258593	chr6:87535631-87535632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188308612	chr6:87535656-87535657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539768357	chr6:87535671-87535672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558947986	chr6:87535767-87535768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535288752	chr6:87535768-87535769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147932750	chr6:87535825-87535826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180709080	chr6:87535826-87535827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78227695	chr6:87535832-87535833	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Esophageal squamous carcinoma	18350619	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
Hodgkin''s lymphoma	18641027	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
Prostate cancer	16461572	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	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Schizophrenia	23813976	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87528600-87529400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:87534600-87536000	Enhancers	Liver	Liver
3	chr6:87534600-87536400	Enhancers	HepG2	liver
4	chr6:87535800-87536000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr6:87536200-87537600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:87536800-87537600	Enhancers	Fetal Intestine Large	intestine
7	chr6:87537600-87538200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr6:87537800-87538000	Enhancers	Liver	Liver
9	chr6:87538200-87540000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:87540000-87540600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr6:87542200-87543200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:87543200-87545400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:87545200-87545800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:87545200-87545800	Enhancers	Pancreas	Pancrea
15	chr6:87545400-87545600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:87545400-87545800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr6:87545600-87546000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:87545800-87547000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:87546000-87546200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:87547200-87547400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:87548600-87549200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr6:87549000-87549400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:87549000-87549400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:87549000-87549400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:87558400-87559200	Enhancers	Fetal Lung	lung
26	chr6:87559200-87566000	Weak transcription	Fetal Lung	lung
27	chr6:87565800-87566400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:87565800-87567400	Enhancers	Ovary	ovary
29	chr6:87566000-87566600	Enhancers	Fetal Lung	lung
30	chr6:87566600-87567000	Weak transcription	Fetal Lung	lung
31	chr6:87567000-87567600	Enhancers	Fetal Lung	lung
32	chr6:87567200-87567600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr6:87577600-87577800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:87578000-87582600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:87582600-87582800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:87597200-87598000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr6:87597200-87599200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:87597400-87597600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:87597400-87597800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr6:87597400-87597800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr6:87597400-87598200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr6:87597400-87598400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:87597400-87598400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:87597400-87599000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr6:87597600-87598000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr6:87597600-87599200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr6:87597600-87599200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr6:87597800-87599000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr6:87597800-87599200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr6:87598000-87598400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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