Variant report

Variant	nsv886460
Chromosome Location	chr6:101890395-101951502
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:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:101950752..101952514-chr6:101954590..101957331,2	K562	blood:
2	chr6:101934940..101937511-chr6:101959747..101962607,2	K562	blood:
3	chr17:57920779..57923321-chr6:101903255..101904760,2	MCF-7	breast:
4	chr6:101902345..101905078-chr6:101905414..101908161,2	K562	blood:
5	chr6:101902345..101905078-chr6:101905414..101908161,2	K562	blood:
6	chr6:101927489..101928280-chr7:11251597..11252397,2	MCF-7	breast:
7	chr6:101884939..101886489-chr6:101898310..101900658,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASCC3-6	chr6:101900840-101901155	NONHSAT114171
2	lnc-ASCC3-6	chr6:101901959-101902113	NONHSAT114171

No data

Extended variants
information (count: 1313 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:1313 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2788274	chr6:101890395-101890396	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545957580	chr6:101890412-101890413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564500855	chr6:101890415-101890416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532065955	chr6:101890423-101890424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550198205	chr6:101890448-101890449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185809277	chr6:101890471-101890472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528849382	chr6:101890488-101890489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547526230	chr6:101890494-101890495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151213853	chr6:101890558-101890559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539516827	chr6:101890575-101890576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558016858	chr6:101890584-101890585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139193323	chr6:101890621-101890622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537395943	chr6:101890627-101890628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145059367	chr6:101890670-101890671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555325324	chr6:101890673-101890674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115409474	chr6:101890711-101890712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201824576	chr6:101890718-101890719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2788275	chr6:101890798-101890799	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73502676	chr6:101890830-101890831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs572236738	chr6:101890833-101890834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62419572	chr6:101890858-101890859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142108952	chr6:101890879-101890880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145829607	chr6:101890917-101890918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562386852	chr6:101890930-101890931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531808975	chr6:101890938-101890939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544102395	chr6:101890979-101890980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370082483	chr6:101891007-101891008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530863751	chr6:101891014-101891015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189936592	chr6:101891049-101891050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547390286	chr6:101891068-101891069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559373003	chr6:101891089-101891090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551060907	chr6:101891110-101891111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2852527	chr6:101891212-101891213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs555738365	chr6:101891215-101891216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116041859	chr6:101891284-101891285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536673745	chr6:101891338-101891339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536804660	chr6:101891418-101891419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546708211	chr6:101891435-101891436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549274506	chr6:101891487-101891488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181665954	chr6:101891521-101891522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145353754	chr6:101891522-101891523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185265085	chr6:101891570-101891571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17061967	chr6:101891573-101891574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs539591520	chr6:101891591-101891592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188379050	chr6:101891595-101891596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149184277	chr6:101891597-101891598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559192447	chr6:101891652-101891653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543620383	chr6:101891653-101891654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562428143	chr6:101891665-101891666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574418205	chr6:101891696-101891697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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
Breast cancer	16272173	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
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	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
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	22543975	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101879200-101892600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:101882800-101893000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:101887400-101891600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:101890000-101890800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr6:101891800-101892000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:101892600-101893200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:101892800-101893200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:101892800-101894000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:101893000-101893200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:101893000-101893200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:101893200-101894800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:101893200-101900200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:101896600-101897000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:101896600-101897800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:101897000-101897400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:101897000-101897600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:101897400-101897600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:101900200-101901600	Enhancers	Fetal Brain Male	brain
19	chr6:101900200-101903400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:101900400-101900600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr6:101900400-101901600	Enhancers	Fetal Brain Female	brain
22	chr6:101900600-101901400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr6:101901200-101902400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:101901400-101901600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr6:101901400-101902000	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr6:101901600-101902400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr6:101902400-101902800	Enhancers	Fetal Kidney	kidney
28	chr6:101902400-101902800	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr6:101902400-101907800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:101903400-101921000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:101906400-101906600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:101906400-101906600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:101906400-101906600	Enhancers	Left Ventricle	heart
34	chr6:101906600-101909000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:101906800-101908200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:101907800-101908200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:101908000-101909600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:101908200-101909400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr6:101908400-101908800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:101909000-101909600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:101914400-101914800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:101915400-101916200	Enhancers	Fetal Brain Female	brain
43	chr6:101915800-101916200	Enhancers	Right Atrium	heart
44	chr6:101915800-101916600	Enhancers	Brain Germinal Matrix	brain
45	chr6:101916800-101918400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:101918000-101918400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr6:101918000-101918600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr6:101918000-101918600	Enhancers	H9 Cell Line	embryonic stem cell
49	chr6:101918000-101918600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr6:101918000-101918800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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