Variant report

Variant	nsv1023554
Chromosome Location	chr6:63516760-63601631
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:41400811..41402656-chr6:63530253..63531773,2	MCF-7	breast:
2	chr6:62518549..62519303-chr6:63600674..63601315,2	MCF-7	breast:
3	chr17:41466229..41468054-chr6:63528754..63531753,2	K562	blood:
4	chr17:41465690..41468054-chr6:63528753..63530254,3	MCF-7	breast:
5	chr6:63514284..63517012-chr6:63519494..63521413,2	MCF-7	breast:
6	chr17:41466567..41467237-chr6:63529754..63530273,2	NB4	blood:
7	chr17:41400161..41402651-chr6:63528753..63531753,3	K562	blood:
8	chr17:41400213..41402082-chr6:63530273..63531773,2	MCF-7	breast:
9	chr6:63601380..63602369-chr6:63983063..63983726,2	MCF-7	breast:
10	chr17:41399298..41401661-chr6:63530253..63531773,2	K562	blood:
11	chr6:63514284..63517012-chr6:63519494..63521413,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000188825	chromatin interactions

Extended variants
information (count: 5159 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:5159 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1337350	chr6:63516760-63516761	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534619003	chr6:63516771-63516772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151296216	chr6:63516776-63516777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568058142	chr6:63516842-63516843	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs186217125	chr6:63516873-63516874	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs556957697	chr6:63516877-63516878	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs192068948	chr6:63516890-63516891	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs140630946	chr6:63516941-63516942	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs559024963	chr6:63516952-63516953	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs576884228	chr6:63516954-63516955	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs541028596	chr6:63516971-63516972	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs7753328	chr6:63516975-63516976	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574482674	chr6:63516976-63516977	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs542151139	chr6:63517018-63517019	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs563808457	chr6:63517024-63517025	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs531159789	chr6:63517046-63517047	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs552462154	chr6:63517050-63517051	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs183336399	chr6:63517068-63517069	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs371091902	chr6:63517083-63517084	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs186705745	chr6:63517091-63517092	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs568094803	chr6:63517100-63517101	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs34470708	chr6:63517118-63517119	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs9443085	chr6:63517170-63517171	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs543549354	chr6:63517183-63517184	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs191032096	chr6:63517195-63517196	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs555147732	chr6:63517243-63517244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146558700	chr6:63517258-63517259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573814907	chr6:63517266-63517267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7767124	chr6:63517267-63517268	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540841599	chr6:63517310-63517311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116758288	chr6:63517334-63517335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562372427	chr6:63517356-63517357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533223437	chr6:63517374-63517375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553035127	chr6:63517404-63517405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71570611	chr6:63517430-63517431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541832297	chr6:63517447-63517448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377468991	chr6:63517470-63517471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531531668	chr6:63517534-63517535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182360810	chr6:63517536-63517537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555890009	chr6:63517562-63517563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564707795	chr6:63517594-63517595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138886442	chr6:63517646-63517647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370919849	chr6:63517713-63517714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112410510	chr6:63517742-63517743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71539300	chr6:63517746-63517747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1415433	chr6:63517747-63517748	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs143570224	chr6:63517767-63517768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1077134	chr6:63517769-63517770	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565197995	chr6:63517770-63517771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551644398	chr6:63517789-63517790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63513200-63518400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr6:63513200-63518400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:63513800-63518400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:63514200-63518400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:63515800-63516800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:63515800-63518400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:63516800-63517000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:63517000-63517200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:63517200-63519200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:63518400-63519000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:63518400-63519000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:63518400-63519000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:63518400-63519000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:63518400-63519000	Enhancers	Fetal Heart	heart
15	chr6:63518400-63521000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:63518600-63519000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:63519000-63519200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr6:63519000-63520000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:63519000-63520200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:63519000-63520200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:63519000-63520200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:63519000-63520400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:63519200-63519600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:63519600-63520200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:63520000-63520200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:63520200-63520400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:63520200-63521000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:63520200-63521000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:63520200-63521000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:63520400-63521000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:63520600-63521000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr6:63520800-63521200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:63521000-63524200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:63524200-63526800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:63526800-63528000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:63528000-63530400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:63530400-63533400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:63531200-63531400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr6:63531400-63533600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:63532000-63532200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:63532200-63532400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr6:63532400-63532600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr6:63532400-63533000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:63532600-63534400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr6:63532800-63534000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:63532800-63534400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr6:63532800-63534800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr6:63533000-63534600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr6:63533000-63534600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr6:63533400-63533600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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