Variant report

Variant	nsv1024679
Chromosome Location	chr7:146091479-146248268
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:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
2	chr7:146218663..146220182-chr7:146222082..146223804,2	K562	blood:
3	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
4	chr7:146210624..146213403-chr7:146216650..146219300,2	MCF-7	breast:
5	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
6	chr7:146185198..146188114-chr7:146194009..146195927,2	K562	blood:
7	chr7:146143168..146145467-chr7:146146129..146147911,2	MCF-7	breast:
8	chr16:70557427..70557946-chr7:146244932..146245452,2	Hela-S3	cervix:
9	chr7:146210624..146213403-chr7:146216650..146219300,2	MCF-7	breast:
10	chr7:146161322..146163893-chr7:146165788..146167322,2	K562	blood:
11	chr7:146077363..146079072-chr7:146098860..146101793,2	K562	blood:
12	chr7:146143168..146145467-chr7:146146129..146147911,2	MCF-7	breast:
13	chr7:146161322..146163893-chr7:146165788..146167322,2	K562	blood:
14	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
15	chr7:146185198..146188114-chr7:146194009..146195927,2	K562	blood:
16	chr7:146218663..146220182-chr7:146222082..146223804,2	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

Variant related genes	Relation type
ENSG00000103051	chromatin interactions
ENSG00000189091	chromatin interactions

Extended variants
information (count: 2586 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2586 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2109695	chr7:146091479-146091480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112577233	chr7:146091480-146091481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2109696	chr7:146091481-146091482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576100270	chr7:146091489-146091490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541934957	chr7:146091586-146091587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561905544	chr7:146091587-146091588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs5888205	chr7:146091591-146091592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397890511	chr7:146091594-146091595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200920662	chr7:146091595-146091596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78155544	chr7:146091603-146091604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148944469	chr7:146091652-146091653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547626885	chr7:146091688-146091689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564610811	chr7:146091695-146091696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552302691	chr7:146091708-146091709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533708400	chr7:146091727-146091728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147036896	chr7:146091730-146091731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377401335	chr7:146091747-146091748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551860301	chr7:146091752-146091753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568853006	chr7:146091791-146091792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185823716	chr7:146091804-146091805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548311905	chr7:146091855-146091856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1639478	chr7:146091862-146091863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs147679480	chr7:146091883-146091884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189526301	chr7:146091908-146091909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553965334	chr7:146091973-146091974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113689306	chr7:146092001-146092002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181515385	chr7:146092008-146092009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186108314	chr7:146092028-146092029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142336958	chr7:146092054-146092055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541873510	chr7:146092091-146092092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555436204	chr7:146092116-146092117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573294744	chr7:146092134-146092135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148235947	chr7:146092155-146092156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376378773	chr7:146092156-146092157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377650251	chr7:146092158-146092159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368266864	chr7:146092172-146092173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541244719	chr7:146092173-146092174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564725048	chr7:146092178-146092179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373734197	chr7:146092179-146092180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533424355	chr7:146092229-146092230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544108084	chr7:146092248-146092249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181411921	chr7:146092279-146092280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1639479	chr7:146092288-146092289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs548245842	chr7:146092293-146092294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568143648	chr7:146092363-146092364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527407363	chr7:146092365-146092366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146913208	chr7:146092373-146092374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1718075	chr7:146092445-146092446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs386718986	chr7:146092453-146092454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539313756	chr7:146092454-146092455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Medulloblastoma	21163964	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146089000-146109400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:146094200-146094600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr7:146096400-146097000	Enhancers	Fetal Brain Female	brain
4	chr7:146098600-146098800	Enhancers	Fetal Brain Female	brain
5	chr7:146101800-146102400	Active TSS	Fetal Lung	lung
6	chr7:146102800-146103400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:146103400-146110200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:146106800-146107200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:146107000-146107200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:146109000-146109800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:146109000-146109800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:146109000-146110600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:146109200-146110600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:146109200-146112000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:146109400-146109800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:146109400-146112400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:146109400-146112600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:146109400-146112600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:146109400-146112800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:146109600-146112400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:146109800-146110000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr7:146110000-146111200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:146110200-146110400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:146110200-146110400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:146110400-146111800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:146110600-146111000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:146110600-146111600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:146111000-146112400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:146111200-146111400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr7:146111200-146111800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:146111400-146111600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:146111400-146111800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr7:146111600-146111800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:146111600-146112200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:146111600-146112400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:146111600-146112400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:146111800-146112400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:146111800-146112400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr7:146111800-146112400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:146112200-146112400	Enhancers	Brain Germinal Matrix	brain
41	chr7:146112400-146113400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:146113400-146113600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr7:146113400-146113600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:146113400-146113800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:146113400-146114000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr7:146113400-146114000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:146113800-146114200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:146114000-146115200	Enhancers	Brain Germinal Matrix	brain
49	chr7:146114400-146114600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr7:146128000-146128200	Enhancers	Fetal Brain Male	brain

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