Variant report

Variant	nsv465189
Chromosome Location	chr7:146225448-146254660
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	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
2	chr16:70557427..70557946-chr7:146244932..146245452,2	Hela-S3	cervix:
3	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
4	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
5	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
6	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
7	chr7:146253504..146256343-chr7:146261873..146263479,2	K562	blood:
8	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000189091	chromatin interactions
ENSG00000103051	chromatin interactions

Extended variants
information (count: 747 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:747 , 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	rs1917950	chr7:146225448-146225449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148355806	chr7:146225471-146225472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545147302	chr7:146225505-146225506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565360617	chr7:146225510-146225511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189319599	chr7:146225559-146225560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550753112	chr7:146225563-146225564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs801945	chr7:146225575-146225576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369554650	chr7:146225581-146225582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112040789	chr7:146225593-146225594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182015274	chr7:146225633-146225634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534634296	chr7:146225653-146225654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551118329	chr7:146225706-146225707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147168425	chr7:146225820-146225821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186308832	chr7:146225876-146225877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138696338	chr7:146225902-146225903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199746037	chr7:146225914-146225915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573881959	chr7:146225935-146225936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536519192	chr7:146225939-146225940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553255678	chr7:146225978-146225979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573085981	chr7:146225997-146225998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558832384	chr7:146226022-146226023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572929459	chr7:146226027-146226028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188765438	chr7:146226039-146226040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142749884	chr7:146226047-146226048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113768384	chr7:146226055-146226056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544305182	chr7:146226110-146226111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76553898	chr7:146226118-146226119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149790320	chr7:146226144-146226145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369077969	chr7:146226149-146226150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs62484464	chr7:146226151-146226152	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543232975	chr7:146226167-146226168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540495517	chr7:146226169-146226170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560816542	chr7:146226204-146226205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532726060	chr7:146226210-146226211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13228971	chr7:146226231-146226232	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs186208683	chr7:146226245-146226246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139020168	chr7:146226264-146226265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550713182	chr7:146226282-146226283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191552434	chr7:146226287-146226288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17170133	chr7:146226298-146226299	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs149964698	chr7:146226320-146226321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144106675	chr7:146226335-146226336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538603318	chr7:146226361-146226362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558865936	chr7:146226381-146226382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550415170	chr7:146226447-146226448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575248843	chr7:146226555-146226556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17170134	chr7:146226582-146226583	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs373447044	chr7:146226615-146226616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17585288	chr7:146226654-146226655	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs182480838	chr7:146226663-146226664	Enhancers	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146223800-146225800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:146225600-146226000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:146225600-146226800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:146225800-146226400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:146226800-146229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:146229400-146229800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:146231400-146242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:146235400-146235600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:146235600-146236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:146236200-146237800	Enhancers	Fetal Kidney	kidney
11	chr7:146236600-146237000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:146238800-146239400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:146239000-146239400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:146239200-146239400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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