Variant report

Variant	nsv1032959
Chromosome Location	chr7:146193191-146351005
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
2	chr7:146218663..146220182-chr7:146222082..146223804,2	K562	blood:
3	chr7:146259240..146261148-chr7:146262758..146264665,2	K562	blood:
4	chr16:70557427..70557946-chr7:146244932..146245452,2	Hela-S3	cervix:
5	chr7:146210624..146213403-chr7:146216650..146219300,2	MCF-7	breast:
6	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
7	chr7:146299400..146301210-chr7:146301475..146303018,2	MCF-7	breast:
8	chr7:146299400..146301210-chr7:146301475..146303018,2	MCF-7	breast:
9	chr16:283786..286287-chr7:146321086..146324044,2	MCF-7	breast:
10	chr4:31335976..31336496-chr7:146308823..146309343,2	MCF-7	breast:
11	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
12	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
13	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
14	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
15	chr7:146259240..146261148-chr7:146262758..146264665,2	K562	blood:
16	chr7:146210624..146213403-chr7:146216650..146219300,2	MCF-7	breast:
17	chr7:146253504..146256343-chr7:146261873..146263479,2	K562	blood:
18	chr7:146253504..146256343-chr7:146261873..146263479,2	K562	blood:
19	chr7:146218663..146220182-chr7:146222082..146223804,2	K562	blood:
20	chr7:146185198..146188114-chr7:146194009..146195927,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167930	chromatin interactions
ENSG00000189091	chromatin interactions
ENSG00000103051	chromatin interactions

Extended variants
information (count: 2335 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2335 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150180449	chr7:146193198-146193199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190924906	chr7:146206407-146206408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs565109880	chr7:146206409-146206410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs115787295	chr7:146206428-146206429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs116295266	chr7:146206503-146206504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs182640640	chr7:146206537-146206538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs13221690	chr7:146206549-146206550	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188999949	chr7:146206568-146206569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs192611603	chr7:146206571-146206572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs539192225	chr7:146206599-146206600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs150370573	chr7:146206632-146206633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs569138924	chr7:146206645-146206646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs183022399	chr7:146206674-146206675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs554850403	chr7:146206697-146206698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112022798	chr7:146206709-146206710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs73164054	chr7:146206710-146206711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs116722978	chr7:146206720-146206721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs187647425	chr7:146206721-146206722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs192180677	chr7:146206749-146206750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs565070287	chr7:146206773-146206774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs184683930	chr7:146206803-146206804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs138135189	chr7:146206805-146206806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs143595528	chr7:146206821-146206822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs530078162	chr7:146206841-146206842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs10215683	chr7:146206863-146206864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs560572519	chr7:146206878-146206879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs552286182	chr7:146206881-146206882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs532480700	chr7:146206984-146206985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs552302479	chr7:146207001-146207002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs570870501	chr7:146207064-146207065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs563949361	chr7:146207073-146207074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs370717379	chr7:146207101-146207102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs7805502	chr7:146207115-146207116	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs189668869	chr7:146207163-146207164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs548443307	chr7:146207176-146207177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs113346157	chr7:146207196-146207197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs192589072	chr7:146207357-146207358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs552672019	chr7:146207409-146207410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs201748727	chr7:146207452-146207453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs79417617	chr7:146207460-146207461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs538727653	chr7:146207484-146207485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs546334446	chr7:146207489-146207490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs565955459	chr7:146207530-146207531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs575465565	chr7:146207535-146207536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs184482962	chr7:146207546-146207547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs189236658	chr7:146207577-146207578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs536597469	chr7:146207613-146207614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117275107	chr7:146207636-146207637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540551306	chr7:146207701-146207702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111266928	chr7:146207739-146207740	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	chr7:146191800-146193200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:146206400-146207200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:146207000-146207600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
4	chr7:146207600-146215800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:146214200-146214800	Active TSS	Fetal Heart	heart
6	chr7:146215800-146216600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:146215800-146217000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:146216000-146216400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:146216000-146216600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:146216000-146216800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:146216200-146216800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:146223400-146223800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:146223800-146225800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:146225600-146226000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:146225600-146226800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:146225800-146226400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:146226800-146229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:146229400-146229800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:146231400-146242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:146235400-146235600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:146235600-146236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:146236200-146237800	Enhancers	Fetal Kidney	kidney
23	chr7:146236600-146237000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:146238800-146239400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:146239000-146239400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:146239200-146239400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:146260000-146260400	Enhancers	Fetal Kidney	kidney
28	chr7:146260200-146260800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr7:146262800-146263200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:146262800-146263200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:146262800-146263200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr7:146262800-146263200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:146262800-146263400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr7:146262800-146263400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:146263000-146263400	Enhancers	Ovary	ovary
36	chr7:146279000-146279600	Enhancers	Fetal Kidney	kidney
37	chr7:146289000-146290200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:146304600-146305000	Enhancers	Stomach Mucosa	stomach
39	chr7:146316600-146317400	Enhancers	Fetal Brain Female	brain
40	chr7:146321800-146323000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:146326000-146326400	Enhancers	Fetal Lung	lung
42	chr7:146330200-146331600	Enhancers	Fetal Brain Male	brain
43	chr7:146330400-146331200	Enhancers	Fetal Brain Female	brain
44	chr7:146331200-146334200	Enhancers	Brain Germinal Matrix	brain
45	chr7:146331600-146333200	Weak transcription	Fetal Brain Male	brain
46	chr7:146332000-146333200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr7:146332200-146333200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:146332200-146333400	Enhancers	Fetal Thymus	thymus
49	chr7:146332400-146332800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr7:146332400-146333000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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