Variant report

Variant	nsv889391
Chromosome Location	chr7:146168418-146389259
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:146299400..146301210-chr7:146301475..146303018,2	MCF-7	breast:
2	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:
3	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:
4	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
5	chr7:146259240..146261148-chr7:146262758..146264665,2	K562	blood:
6	chr7:146218663..146220182-chr7:146222082..146223804,2	K562	blood:
7	chr7:146185198..146188114-chr7:146194009..146195927,2	K562	blood:
8	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
9	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
10	chr16:283786..286287-chr7:146321086..146324044,2	MCF-7	breast:
11	chr7:146210624..146213403-chr7:146216650..146219300,2	MCF-7	breast:
12	chr7:146218663..146220182-chr7:146222082..146223804,2	K562	blood:
13	chr16:70557427..70557946-chr7:146244932..146245452,2	Hela-S3	cervix:
14	chr7:146210624..146213403-chr7:146216650..146219300,2	MCF-7	breast:
15	chr7:146259240..146261148-chr7:146262758..146264665,2	K562	blood:
16	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
17	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
18	chr7:146253504..146256343-chr7:146261873..146263479,2	K562	blood:
19	chr4:31335976..31336496-chr7:146308823..146309343,2	MCF-7	breast:
20	chr7:144849072..144851097-chr7:146354909..146357646,2	K562	blood:
21	chr7:146185198..146188114-chr7:146194009..146195927,2	K562	blood:
22	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
23	chr7:146253504..146256343-chr7:146261873..146263479,2	K562	blood:
24	chr7:146299400..146301210-chr7:146301475..146303018,2	MCF-7	breast:

No data

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

Extended variants
information (count: 3120 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:3120 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566939458	chr7:146178428-146178429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535877194	chr7:146178433-146178434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147981411	chr7:146178459-146178460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117069057	chr7:146178486-146178487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140905776	chr7:146178535-146178536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563972689	chr7:146178556-146178557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558477568	chr7:146178605-146178606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569107208	chr7:146178645-146178646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28542164	chr7:146178652-146178653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs207468739	chr7:146178677-146178678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186398454	chr7:146178750-146178751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574865094	chr7:146178769-146178770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191244839	chr7:146178778-146178779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372623466	chr7:146178793-146178794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554231635	chr7:146178865-146178866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577276330	chr7:146178866-146178867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146120352	chr7:146178902-146178903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138859122	chr7:146178914-146178915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199814125	chr7:146178936-146178937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs700274	chr7:146178941-146178942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535496985	chr7:146178997-146178998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182237243	chr7:146179100-146179101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112963538	chr7:146179160-146179161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542102363	chr7:146179162-146179163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185410899	chr7:146179181-146179182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557720109	chr7:146182433-146182434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368581694	chr7:146182436-146182437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73464712	chr7:146182451-146182452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558041123	chr7:146182503-146182504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573006167	chr7:146182506-146182507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73464714	chr7:146182548-146182549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370261859	chr7:146182556-146182557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371749474	chr7:146182563-146182564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540244319	chr7:146182603-146182604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146203758	chr7:146182663-146182664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11973826	chr7:146182670-146182671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116367471	chr7:146182716-146182717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564326254	chr7:146182746-146182747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115579126	chr7:146182753-146182754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543293065	chr7:146182777-146182778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563292912	chr7:146182778-146182779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370079052	chr7:146182807-146182808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529244039	chr7:146182846-146182847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34920825	chr7:146182852-146182853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548974935	chr7:146182897-146182898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563583092	chr7:146182910-146182911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377249479	chr7:146182916-146182917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138891491	chr7:146182927-146182928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376047244	chr7:146182999-146183000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571795103	chr7:146183026-146183027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146178400-146179000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr7:146178600-146179200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:146182400-146182800	Enhancers	Fetal Brain Female	brain
4	chr7:146182800-146184800	Weak transcription	Fetal Brain Female	brain
5	chr7:146183400-146183600	Enhancers	Fetal Brain Male	brain
6	chr7:146183600-146184200	Weak transcription	Fetal Brain Male	brain
7	chr7:146184200-146185200	Enhancers	Fetal Brain Male	brain
8	chr7:146184800-146185200	Enhancers	Fetal Brain Female	brain
9	chr7:146186800-146187000	ZNF genes & repeats	Pancreas	Pancrea
10	chr7:146188400-146188800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:146191800-146193200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:146206400-146207200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:146207000-146207600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
14	chr7:146207600-146215800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:146214200-146214800	Active TSS	Fetal Heart	heart
16	chr7:146215800-146216600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:146215800-146217000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:146216000-146216400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:146216000-146216600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:146216000-146216800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:146216200-146216800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:146223400-146223800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:146223800-146225800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:146225600-146226000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:146225600-146226800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:146225800-146226400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr7:146226800-146229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:146229400-146229800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:146231400-146242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:146235400-146235600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:146235600-146236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:146236200-146237800	Enhancers	Fetal Kidney	kidney
33	chr7:146236600-146237000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:146238800-146239400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:146239000-146239400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:146239200-146239400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:146260000-146260400	Enhancers	Fetal Kidney	kidney
38	chr7:146260200-146260800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr7:146262800-146263200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr7:146262800-146263200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr7:146262800-146263200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr7:146262800-146263200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:146262800-146263400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr7:146262800-146263400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr7:146263000-146263400	Enhancers	Ovary	ovary
46	chr7:146279000-146279600	Enhancers	Fetal Kidney	kidney
47	chr7:146289000-146290200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:146304600-146305000	Enhancers	Stomach Mucosa	stomach
49	chr7:146316600-146317400	Enhancers	Fetal Brain Female	brain
50	chr7:146321800-146323000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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