Variant report

Variant	nsv1032696
Chromosome Location	chr6:160703905-160737140
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:160716164..160718805-chr6:160722455..160725024,2	K562	blood:
2	chr6:160716164..160718805-chr6:160722455..160725024,2	K562	blood:
3	chr6:160559270..160559911-chr6:160718121..160718859,2	MCF-7	breast:
4	chr6:160733128..160735557-chr6:160736055..160738412,2	K562	blood:
5	chr6:160733128..160735557-chr6:160736055..160738412,2	K562	blood:
6	chr6:160509107..160510028-chr6:160718406..160718959,2	MCF-7	breast:
7	chr6:160728963..160731856-chr6:160829180..160831346,2	K562	blood:
8	chr6:160642201..160643043-chr6:160717927..160719056,3	MCF-7	breast:

No data

Extended variants
information (count: 1450 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1450 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111886052	chr6:160705406-160705407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs566391365	chr6:160705410-160705411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs528444872	chr6:160705417-160705418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs59139228	chr6:160705421-160705422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs551486551	chr6:160705479-160705480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs76919314	chr6:160705519-160705520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs189644686	chr6:160705530-160705531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs180893063	chr6:160705553-160705554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs599219	chr6:160705612-160705613	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2504943	chr6:160705615-160705616	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs535291258	chr6:160705624-160705625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs555210722	chr6:160705693-160705694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs572020846	chr6:160705701-160705702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs185541184	chr6:160705713-160705714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs2481040	chr6:160705730-160705731	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548705255	chr6:160705742-160705743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs2481041	chr6:160705787-160705788	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563393011	chr6:160705848-160705849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs148647162	chr6:160705865-160705866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs144813507	chr6:160705914-160705915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs551055031	chr6:160705915-160705916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs543251236	chr6:160705932-160705933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs560040503	chr6:160705951-160705952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs535776330	chr6:160705957-160705958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs73784345	chr6:160706139-160706140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs114530726	chr6:160706217-160706218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565119121	chr6:160706257-160706258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144102921	chr6:160706266-160706267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530964084	chr6:160706278-160706279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371277335	chr6:160706296-160706297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373505492	chr6:160706300-160706301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575836829	chr6:160706328-160706329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550634787	chr6:160706374-160706375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11969661	chr6:160706419-160706420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs533814875	chr6:160706420-160706421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535233637	chr6:160706446-160706447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76342563	chr6:160706450-160706451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147942881	chr6:160706451-160706452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534596410	chr6:160706454-160706455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35217360	chr6:160706569-160706570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558359744	chr6:160706588-160706589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558057493	chr6:160706602-160706603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577535704	chr6:160706604-160706605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188733570	chr6:160706618-160706619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557053835	chr6:160706620-160706621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377324668	chr6:160706635-160706636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1118329	chr6:160706644-160706645	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs35311929	chr6:160706648-160706649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs398094703	chr6:160706650-160706651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1685986	chr6:160706661-160706662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:85)

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
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
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
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
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160705400-160706200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:160706200-160707600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:160706400-160707600	Enhancers	Stomach Mucosa	stomach
4	chr6:160707000-160707600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:160707400-160707800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:160710200-160711000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:160710400-160721200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:160711000-160714800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:160713200-160713400	Enhancers	Aorta	Aorta
10	chr6:160713200-160713800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:160713400-160713800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:160713400-160718600	Weak transcription	Aorta	Aorta
13	chr6:160713800-160714800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:160714800-160715200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr6:160714800-160715200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:160714800-160715200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr6:160714800-160715200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:160714800-160715200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:160714800-160715200	Enhancers	Pancreas	Pancrea
20	chr6:160714800-160715400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:160714800-160715400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:160714800-160715400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:160714800-160715400	Enhancers	A549	lung
24	chr6:160714800-160715400	Enhancers	HMEC	breast
25	chr6:160714800-160715600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:160715000-160715200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr6:160715000-160715400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:160715000-160715400	Enhancers	Fetal Muscle Trunk	muscle
29	chr6:160715000-160715400	Enhancers	Fetal Muscle Leg	muscle
30	chr6:160715000-160715400	Enhancers	HSMMtube	muscle
31	chr6:160715000-160715400	Enhancers	NHEK	skin
32	chr6:160715200-160715600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr6:160715200-160718200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr6:160715200-160720600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:160715400-160719000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:160715400-160720600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:160715400-160720600	Weak transcription	HMEC	breast
38	chr6:160715400-160720600	Weak transcription	NHEK	skin
39	chr6:160715400-160721800	Weak transcription	HSMMtube	muscle
40	chr6:160715600-160718800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:160715600-160720400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr6:160718200-160718600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr6:160718400-160719400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr6:160718400-160723600	Enhancers	Fetal Muscle Leg	muscle
45	chr6:160718600-160719200	Enhancers	Aorta	Aorta
46	chr6:160718600-160719200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr6:160718600-160720800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr6:160718800-160719000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:160719000-160719200	Enhancers	Osteobl	bone
50	chr6:160719000-160719600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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