Variant report

Variant	nsv885983
Chromosome Location	chr6:63496747-63652377
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:0)
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	chr17:41400161..41402651-chr6:63528753..63531753,3	K562	blood:
2	chr6:63611819..63614221-chr6:64475129..64477483,2	MCF-7	breast:
3	chr6:63601380..63602369-chr6:63983063..63983726,2	MCF-7	breast:
4	chr6:63514284..63517012-chr6:63519494..63521413,2	MCF-7	breast:
5	chr17:41466229..41468054-chr6:63528754..63531753,2	K562	blood:
6	chr5:163654633..163655494-chr6:63642308..63642940,2	MCF-7	breast:
7	chr6:62518549..62519303-chr6:63600674..63601315,2	MCF-7	breast:
8	chr17:41400811..41402656-chr6:63530253..63531773,2	MCF-7	breast:
9	chr17:41399298..41401661-chr6:63530253..63531773,2	K562	blood:
10	chr6:63514284..63517012-chr6:63519494..63521413,2	MCF-7	breast:
11	chr17:41466567..41467237-chr6:63529754..63530273,2	NB4	blood:
12	chr17:41400213..41402082-chr6:63530273..63531773,2	MCF-7	breast:
13	chr17:41465690..41468054-chr6:63528753..63530254,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000188825	chromatin interactions

Extended variants
information (count: 6816 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:6816 , 50 per page) page: 1 2 3 4 5 6 7 ... 137

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9443050	chr6:63496747-63496748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578176952	chr6:63496770-63496771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558658292	chr6:63496785-63496786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190678183	chr6:63496863-63496864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375360981	chr6:63496907-63496908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577486790	chr6:63496921-63496922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111947698	chr6:63496959-63496960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112341706	chr6:63496965-63496966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534649326	chr6:63496993-63496994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367949016	chr6:63497012-63497013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143421461	chr6:63497027-63497028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182797282	chr6:63497035-63497036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575230171	chr6:63497049-63497050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545808422	chr6:63497062-63497063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187140172	chr6:63497112-63497113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9443051	chr6:63497122-63497123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540484479	chr6:63497174-63497175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372262885	chr6:63497235-63497236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9447234	chr6:63497248-63497249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192623010	chr6:63497259-63497260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9447235	chr6:63497301-63497302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs368260806	chr6:63497352-63497353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557746429	chr6:63497377-63497378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576808267	chr6:63497378-63497379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545481888	chr6:63497379-63497380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs137947801	chr6:63497406-63497407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184500251	chr6:63497413-63497414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199632586	chr6:63497430-63497431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575619632	chr6:63497459-63497460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570714994	chr6:63497473-63497474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572185094	chr6:63497474-63497475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534695572	chr6:63497496-63497497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112393813	chr6:63497509-63497510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553294756	chr6:63497562-63497563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142421677	chr6:63497625-63497626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560872536	chr6:63497657-63497658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535682911	chr6:63497684-63497685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187467810	chr6:63497714-63497715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575315052	chr6:63497781-63497782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114759469	chr6:63497824-63497825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192698730	chr6:63497825-63497826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572921691	chr6:63497831-63497832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540221878	chr6:63497845-63497846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6903488	chr6:63497863-63497864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529180217	chr6:63497867-63497868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544440423	chr6:63497918-63497919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543160071	chr6:63497925-63497926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9360832	chr6:63497934-63497935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531042086	chr6:63497950-63497951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552438862	chr6:63497957-63497958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63487200-63500600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:63500600-63504000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:63502800-63503400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr6:63503200-63503400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:63503400-63507200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:63504000-63507200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:63506200-63507000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:63506600-63507000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:63506600-63507400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:63507000-63507200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:63507200-63507400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:63507200-63507600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:63507200-63509400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr6:63507200-63509800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:63507200-63509800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr6:63507400-63508000	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr6:63507400-63512200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:63507600-63509000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:63508000-63512800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:63509000-63513400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:63509400-63513000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:63509600-63513600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr6:63509800-63510200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:63510200-63513600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:63511800-63513200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr6:63512000-63512800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr6:63512200-63512800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr6:63512800-63513200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr6:63512800-63513200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:63512800-63513200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr6:63513000-63513200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:63513000-63513200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr6:63513200-63513400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr6:63513200-63513400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr6:63513200-63518400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr6:63513200-63518400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:63513400-63513600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr6:63513400-63513600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr6:63513400-63513800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:63513600-63513800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr6:63513600-63514000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr6:63513600-63514200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:63513600-63514200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr6:63513800-63518400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:63514000-63515400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr6:63514200-63515800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:63514200-63518400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr6:63515400-63515800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr6:63515600-63515800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr6:63515800-63516800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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