Variant report

Variant	nsv917027
Chromosome Location	chr7:146069317-146194011
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:146077123..146080368-chr7:146083154..146084711,3	K562	blood:
2	chr7:146077123..146080368-chr7:146083154..146084711,3	K562	blood:
3	chr7:146185198..146188114-chr7:146194009..146195927,2	K562	blood:
4	chr7:146143168..146145467-chr7:146146129..146147911,2	MCF-7	breast:
5	chr7:146074528..146076132-chr7:146081076..146083881,2	K562	blood:
6	chr7:146143168..146145467-chr7:146146129..146147911,2	MCF-7	breast:
7	chr7:146161322..146163893-chr7:146165788..146167322,2	K562	blood:
8	chr7:146077363..146079072-chr7:146098860..146101793,2	K562	blood:
9	chr7:146185198..146188114-chr7:146194009..146195927,2	K562	blood:
10	chr7:146161322..146163893-chr7:146165788..146167322,2	K562	blood:
11	chr7:146074528..146076132-chr7:146081076..146083881,2	K562	blood:
12	chr7:146077363..146079072-chr7:146098860..146101793,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TPK1-4	chr7:146113435-146113645	NONHSAT123948

No data

Extended variants
information (count: 1661 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1661 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190091365	chr7:146069361-146069362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528035862	chr7:146069362-146069363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146620742	chr7:146069364-146069365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182822498	chr7:146069425-146069426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12703804	chr7:146069434-146069435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186693334	chr7:146069477-146069478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138161027	chr7:146069481-146069482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570602028	chr7:146069500-146069501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71525944	chr7:146069572-146069573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34798078	chr7:146069607-146069608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568247761	chr7:146069621-146069622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191553137	chr7:146069676-146069677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554505838	chr7:146069698-146069699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556500268	chr7:146069699-146069700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547813661	chr7:146069707-146069708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373940779	chr7:146069713-146069714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565942299	chr7:146069739-146069740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141046561	chr7:146069751-146069752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150313623	chr7:146069757-146069758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573467103	chr7:146069758-146069759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576375395	chr7:146069761-146069762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537272811	chr7:146069789-146069790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555587561	chr7:146069828-146069829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573820852	chr7:146069843-146069844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541124960	chr7:146069848-146069849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536084862	chr7:146069852-146069853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149026701	chr7:146069885-146069886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145802151	chr7:146069926-146069927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12703805	chr7:146069946-146069947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573912038	chr7:146069963-146069964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201367260	chr7:146069984-146069985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544956890	chr7:146070007-146070008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182340473	chr7:146070024-146070025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557356579	chr7:146070044-146070045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77215156	chr7:146070070-146070071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561940253	chr7:146070109-146070110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115819580	chr7:146070119-146070120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547583057	chr7:146070154-146070155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138917121	chr7:146070155-146070156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533194481	chr7:146070169-146070170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551729698	chr7:146070181-146070182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570000997	chr7:146070231-146070232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377563112	chr7:146070253-146070254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142941481	chr7:146070254-146070255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555649028	chr7:146070308-146070309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147010679	chr7:146070370-146070371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376905371	chr7:146070397-146070398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116132216	chr7:146070407-146070408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552810901	chr7:146070436-146070437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115246256	chr7:146070486-146070487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Epilepsy	20502679	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146068800-146072800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:146071400-146072800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:146071600-146072600	Enhancers	Fetal Brain Female	brain
4	chr7:146072200-146073200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:146073000-146073200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:146082400-146082800	Enhancers	Fetal Lung	lung
7	chr7:146084000-146084400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:146088800-146089000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:146089000-146109400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:146094200-146094600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:146096400-146097000	Enhancers	Fetal Brain Female	brain
12	chr7:146098600-146098800	Enhancers	Fetal Brain Female	brain
13	chr7:146101800-146102400	Active TSS	Fetal Lung	lung
14	chr7:146102800-146103400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:146103400-146110200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:146106800-146107200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr7:146107000-146107200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:146109000-146109800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr7:146109000-146109800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:146109000-146110600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr7:146109200-146110600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:146109200-146112000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:146109400-146109800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:146109400-146112400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:146109400-146112600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr7:146109400-146112600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:146109400-146112800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:146109600-146112400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:146109800-146110000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr7:146110000-146111200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr7:146110200-146110400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:146110200-146110400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:146110400-146111800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:146110600-146111000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:146110600-146111600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:146111000-146112400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:146111200-146111400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:146111200-146111800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:146111400-146111600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:146111400-146111800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr7:146111600-146111800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:146111600-146112200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:146111600-146112400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr7:146111600-146112400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:146111800-146112400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:146111800-146112400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr7:146111800-146112400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:146112200-146112400	Enhancers	Brain Germinal Matrix	brain
49	chr7:146112400-146113400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr7:146113400-146113600	Enhancers	H1 Cell Line	embryonic stem cell

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