Variant report

Variant	nsv538468
Chromosome Location	chr6:147739448-147774642
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:27)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:147740272..147742027-chr6:147742891..147745497,2	K562	blood:
2	chr6:147762643..147764759-chr6:147769331..147771123,2	K562	blood:
3	chr6:147759968..147763538-chr6:147764035..147766961,5	K562	blood:
4	chr6:147738644..147741083-chr6:147742445..147744911,2	K562	blood:
5	chr6:147759337..147760891-chr6:147761627..147763156,2	K562	blood:
6	chr6:147757442..147759557-chr6:147766686..147769295,2	K562	blood:
7	chr6:147754012..147755874-chr6:147758654..147760515,2	K562	blood:
8	chr6:147735838..147738372-chr6:147756613..147758954,2	K562	blood:
9	chr6:147773926..147776713-chr6:147779458..147781674,2	K562	blood:
10	chr6:147738644..147741083-chr6:147742445..147744911,2	K562	blood:
11	chr6:147757442..147759557-chr6:147766686..147769295,2	K562	blood:
12	chr6:147740272..147742027-chr6:147742891..147745497,2	K562	blood:
13	chr6:147754012..147755874-chr6:147758654..147760515,2	K562	blood:
14	chr6:147759968..147761731-chr6:147764035..147766151,2	K562	blood:
15	chr6:147752454..147754748-chr6:147767356..147770083,2	K562	blood:
16	chr6:147759968..147763538-chr6:147764035..147766961,5	K562	blood:
17	chr6:147734196..147737640-chr6:147737785..147741686,5	K562	blood:
18	chr6:147762643..147764759-chr6:147769331..147771123,2	K562	blood:
19	chr6:147721410..147723545-chr6:147743708..147746070,2	K562	blood:
20	chr6:147726270..147729075-chr6:147755966..147757617,2	K562	blood:
21	chr6:147771342..147773126-chr6:147787033..147789085,2	K562	blood:
22	chr6:147752454..147754748-chr6:147767356..147770083,2	K562	blood:
23	chr6:147734196..147737640-chr6:147738891..147741686,3	K562	blood:
24	chr6:147750400..147752349-chr6:147759203..147760972,2	K562	blood:
25	chr6:147759337..147760891-chr6:147761627..147763156,2	K562	blood:
26	chr6:147750400..147752349-chr6:147759203..147760972,2	K562	blood:
27	chr6:147759968..147761731-chr6:147764035..147766151,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STXBP5-5	chr6:147751891-147753294	ucscGeneNc_uc003qmb_2
2	lnc-STXBP5-5	chr6:147750497-147750565	ucscGeneNc_uc003qmb_2
3	lnc-STXBP5-5	chr6:147750493-147750565	NONHSAT115451
4	lnc-STXBP5-5	chr6:147751891-147753294	NONHSAT115451

No data

Variant related genes	Relation type
ENSG00000220494	chromatin interactions

Extended variants
information (count: 922 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:922 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183306212	chr6:147741817-147741818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552736767	chr6:147741818-147741819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141485462	chr6:147741820-147741821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187851715	chr6:147741869-147741870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371489829	chr6:147741873-147741874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147451126	chr6:147741913-147741914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542544557	chr6:147741932-147741933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9497774	chr6:147742013-147742014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537386616	chr6:147742021-147742022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191516025	chr6:147742028-147742029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139916839	chr6:147742055-147742056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557550332	chr6:147742117-147742118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577516554	chr6:147742141-147742142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546292758	chr6:147742157-147742158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553520385	chr6:147742178-147742179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143846463	chr6:147742190-147742191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560657984	chr6:147742202-147742203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116612837	chr6:147742221-147742222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573290251	chr6:147742241-147742242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541911044	chr6:147742242-147742243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117273082	chr6:147742252-147742253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34107973	chr6:147742264-147742265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572872940	chr6:147742267-147742268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373257149	chr6:147742353-147742354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183710957	chr6:147742359-147742360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550277866	chr6:147742420-147742421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188035935	chr6:147742425-147742426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140635887	chr6:147742449-147742450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546439110	chr6:147742450-147742451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371035525	chr6:147742465-147742466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78713509	chr6:147742526-147742527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561987595	chr6:147742571-147742572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192499038	chr6:147742579-147742580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149710175	chr6:147742598-147742599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558168516	chr6:147742602-147742603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578259939	chr6:147742681-147742682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185364670	chr6:147742695-147742696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145583428	chr6:147742696-147742697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574184053	chr6:147742702-147742703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190266205	chr6:147742704-147742705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373746340	chr6:147742705-147742706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561840941	chr6:147742715-147742716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530498242	chr6:147742750-147742751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543846230	chr6:147742755-147742756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563738053	chr6:147742758-147742759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67388935	chr6:147742786-147742787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544183	chr6:147742787-147742788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367982897	chr6:147742805-147742806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566396228	chr6:147742893-147742894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370235141	chr6:147742900-147742901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147741800-147742000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:147742000-147743800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:147743000-147743800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:147743200-147744200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:147743600-147744000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr6:147743600-147744600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:147743800-147744000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:147743800-147744400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr6:147743800-147744400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:147743800-147744800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:147743800-147745200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:147744200-147744600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:147744400-147744600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:147744800-147745000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:147744800-147745000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:147751400-147755600	Weak transcription	HSMMtube	muscle
17	chr6:147752200-147752800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:147752800-147753000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:147753000-147753200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:147753200-147753600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:147753600-147754000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:147754200-147754400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:147755200-147755800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:147755200-147756000	Enhancers	HMEC	breast
25	chr6:147755200-147756400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:147755200-147756400	Enhancers	NHEK	skin
27	chr6:147755400-147756000	Enhancers	HSMM	muscle
28	chr6:147755600-147755800	Enhancers	Ovary	ovary
29	chr6:147755600-147756200	Enhancers	HSMMtube	muscle
30	chr6:147755600-147756400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:147755600-147756400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:147755600-147757400	Enhancers	Fetal Stomach	stomach
33	chr6:147755800-147763400	Weak transcription	Ovary	ovary
34	chr6:147757400-147762800	Weak transcription	Fetal Stomach	stomach
35	chr6:147758600-147760000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
36	chr6:147758800-147759000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
37	chr6:147758800-147759000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:147758800-147759400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr6:147758800-147761200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr6:147759000-147759400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr6:147759000-147759800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
42	chr6:147759000-147760000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr6:147759000-147760000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr6:147759400-147759800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr6:147759400-147760000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
46	chr6:147759400-147760000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr6:147759400-147760600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr6:147759800-147760000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr6:147759800-147760000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:147759800-147760200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell

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