Variant report

Variant	nsv1031695
Chromosome Location	chr7:146383427-146503119
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:146465957..146468048-chr7:146468672..146471163,2	K562	blood:
2	chr7:146500988..146503359-chr7:146527735..146530660,2	K562	blood:
3	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
4	chr7:146433613..146434480-chr7:146942002..146942841,3	MCF-7	breast:
5	chr7:146486735..146488259-chr7:146492496..146494438,2	K562	blood:
6	chr7:146465957..146468048-chr7:146468672..146471163,2	K562	blood:
7	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
8	chr7:146486735..146488259-chr7:146492496..146494438,2	K562	blood:
9	chr7:146498401..146500562-chr7:146505202..146506866,2	K562	blood:
10	chr7:146479043..146481876-chr7:146483638..146485825,2	K562	blood:
11	chr7:146433750..146434499-chr7:147781098..147781819,2	MCF-7	breast:
12	chr7:146479043..146481876-chr7:146483638..146485825,2	K562	blood:

No data

Extended variants
information (count: 2470 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:2470 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553727203	chr7:146386224-146386225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10227975	chr7:146386265-146386266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576956548	chr7:146386335-146386336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373993115	chr7:146386377-146386378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181164765	chr7:146386378-146386379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545823707	chr7:146386391-146386392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562521748	chr7:146386410-146386411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75824073	chr7:146386420-146386421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542029929	chr7:146386429-146386430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186470428	chr7:146386433-146386434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189692194	chr7:146386441-146386442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574001775	chr7:146386478-146386479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544455159	chr7:146386480-146386481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547413384	chr7:146386481-146386482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546096069	chr7:146386528-146386529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564414175	chr7:146386535-146386536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60409436	chr7:146386539-146386540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375132267	chr7:146386543-146386544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111855722	chr7:146386570-146386571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10272171	chr7:146386586-146386587	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs376995532	chr7:146386605-146386606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143547213	chr7:146386628-146386629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528124126	chr7:146386660-146386661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2172721	chr7:146386672-146386673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182324104	chr7:146386729-146386730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549534123	chr7:146386738-146386739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186681992	chr7:146386740-146386741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535318847	chr7:146386767-146386768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545518105	chr7:146386788-146386789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201742051	chr7:146387002-146387003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141882469	chr7:146387016-146387017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561910676	chr7:146387026-146387027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572103212	chr7:146387030-146387031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144319393	chr7:146387083-146387084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577353606	chr7:146387086-146387087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541222474	chr7:146387118-146387119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564008498	chr7:146387130-146387131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533075686	chr7:146387151-146387152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550846716	chr7:146387177-146387178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375824383	chr7:146387206-146387207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549751379	chr7:146387225-146387226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563372671	chr7:146387226-146387227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190703531	chr7:146387244-146387245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370774485	chr7:146387258-146387259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2642487	chr7:146387282-146387283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs150618326	chr7:146387290-146387291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183355472	chr7:146387298-146387299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188522017	chr7:146387316-146387317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551973501	chr7:146387335-146387336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35920174	chr7:146387342-146387343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146386200-146386600	Enhancers	Brain Germinal Matrix	brain
2	chr7:146386600-146386800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:146387000-146390800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:146387800-146388200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:146390800-146391400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:146395800-146396000	Enhancers	Fetal Lung	lung
7	chr7:146396200-146398000	Weak transcription	Fetal Lung	lung
8	chr7:146397200-146398000	Enhancers	Stomach Mucosa	stomach
9	chr7:146397200-146398600	Enhancers	Ovary	ovary
10	chr7:146397800-146398400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:146398000-146399800	Enhancers	Fetal Lung	lung
12	chr7:146398200-146398600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:146398400-146399000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr7:146398800-146399200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:146398800-146399200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:146406200-146406400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:146406200-146406400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:146406400-146406800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:146406400-146406800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:146406400-146407000	Enhancers	Fetal Lung	lung
21	chr7:146406400-146407400	Enhancers	Primary hematopoietic stem cells	blood
22	chr7:146406400-146407400	Enhancers	Ovary	ovary
23	chr7:146406400-146407600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:146406400-146407800	Enhancers	Stomach Mucosa	stomach
25	chr7:146406600-146407400	Enhancers	Pancreas	Pancrea
26	chr7:146406800-146407400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:146406800-146407400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:146407400-146407800	Weak transcription	Ovary	ovary
29	chr7:146407400-146407800	Weak transcription	Pancreas	Pancrea
30	chr7:146407800-146408200	Enhancers	Ovary	ovary
31	chr7:146407800-146408200	Enhancers	Pancreas	Pancrea
32	chr7:146410800-146417400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:146417000-146417800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:146417000-146417800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:146417400-146417600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:146417600-146417800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:146417800-146422600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:146422600-146423200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:146425800-146426400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:146425800-146426400	Enhancers	Fetal Heart	heart
41	chr7:146433400-146433600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:146433600-146433800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:146433800-146438600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:146437600-146438200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr7:146437600-146438200	ZNF genes & repeats	Aorta	Aorta
46	chr7:146438200-146438800	Enhancers	Fetal Brain Male	brain
47	chr7:146438600-146439000	Enhancers	Fetal Brain Female	brain
48	chr7:146438800-146439200	Weak transcription	Fetal Brain Male	brain
49	chr7:146439000-146439200	Weak transcription	Brain Germinal Matrix	brain
50	chr7:146439200-146439600	Enhancers	Fetal Brain Male	brain

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