Variant report

Variant	nsv608938
Chromosome Location	chr7:146227624-146264567
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	chr7:146253504..146256343-chr7:146261873..146263479,2	K562	blood:
2	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
3	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
4	chr16:70557427..70557946-chr7:146244932..146245452,2	Hela-S3	cervix:
5	chr7:146259240..146261148-chr7:146262758..146264665,2	K562	blood:
6	chr7:146253504..146256343-chr7:146261873..146263479,2	K562	blood:
7	chr7:146259240..146261148-chr7:146262758..146264665,2	K562	blood:
8	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
9	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
10	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
11	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000103051	chromatin interactions
ENSG00000189091	chromatin interactions

Extended variants
information (count: 703 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:703 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs801943	chr7:146227624-146227625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34758912	chr7:146227632-146227633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs78981849	chr7:146227651-146227652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74776147	chr7:146227706-146227707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534256944	chr7:146227708-146227709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75490160	chr7:146227709-146227710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553988730	chr7:146227718-146227719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577297232	chr7:146227802-146227803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142864020	chr7:146227853-146227854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560981467	chr7:146227864-146227865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35867568	chr7:146227868-146227869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74829048	chr7:146227890-146227891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540340045	chr7:146227896-146227897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192019373	chr7:146227939-146227940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375460356	chr7:146227983-146227984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78109557	chr7:146227992-146227993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531906134	chr7:146227993-146227994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78273124	chr7:146228009-146228010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565534864	chr7:146228010-146228011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111372873	chr7:146228024-146228025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574365653	chr7:146228072-146228073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs801942	chr7:146228121-146228122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559968719	chr7:146228161-146228162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532268071	chr7:146228164-146228165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140919163	chr7:146228190-146228191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62484477	chr7:146228243-146228244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531452659	chr7:146228267-146228268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183806503	chr7:146228277-146228278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568406244	chr7:146228304-146228305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376474407	chr7:146228309-146228310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150274513	chr7:146228327-146228328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs801941	chr7:146228378-146228379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187897566	chr7:146228411-146228412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145843925	chr7:146228426-146228427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369574765	chr7:146228428-146228429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111773035	chr7:146228430-146228431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536123187	chr7:146228542-146228543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117952832	chr7:146228614-146228615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147100045	chr7:146228616-146228617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539830221	chr7:146228624-146228625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553770168	chr7:146228659-146228660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193010013	chr7:146228660-146228661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112597706	chr7:146228678-146228679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184319333	chr7:146228724-146228725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569834591	chr7:146228736-146228737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186516395	chr7:146228747-146228748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530472001	chr7:146228759-146228760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541691604	chr7:146228769-146228770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191303543	chr7:146228770-146228771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373485837	chr7:146228856-146228857	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146226800-146229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:146229400-146229800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:146231400-146242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:146235400-146235600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:146235600-146236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:146236200-146237800	Enhancers	Fetal Kidney	kidney
7	chr7:146236600-146237000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:146238800-146239400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:146239000-146239400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:146239200-146239400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:146260000-146260400	Enhancers	Fetal Kidney	kidney
12	chr7:146260200-146260800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr7:146262800-146263200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:146262800-146263200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:146262800-146263200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:146262800-146263200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:146262800-146263400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:146262800-146263400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:146263000-146263400	Enhancers	Ovary	ovary

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