Variant report

Variant	nsv932964
Chromosome Location	chr7:146380022-146451013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:146433750..146434499-chr7:147781098..147781819,2	MCF-7	breast:
2	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
3	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
4	chr7:146433613..146434480-chr7:146942002..146942841,3	MCF-7	breast:
5	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:

Extended variants
information (count: 1400 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1400 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562555762	chr7:146380402-146380403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200705232	chr7:146380416-146380417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531455786	chr7:146380427-146380428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548370711	chr7:146380430-146380431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73166380	chr7:146380440-146380441	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148183904	chr7:146380469-146380470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541689972	chr7:146380479-146380480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs735162	chr7:146380578-146380579	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs539775539	chr7:146380579-146380580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556307356	chr7:146380581-146380582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569783413	chr7:146380586-146380587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141355235	chr7:146380609-146380610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs903350	chr7:146380626-146380627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181819402	chr7:146380634-146380635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541350175	chr7:146380636-146380637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574877587	chr7:146380682-146380683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558388829	chr7:146380685-146380686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111344993	chr7:146380692-146380693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545755200	chr7:146380703-146380704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562359223	chr7:146380746-146380747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34042469	chr7:146380764-146380765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531412910	chr7:146380784-146380785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541993194	chr7:146380808-146380809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563678279	chr7:146380826-146380827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561856989	chr7:146380858-146380859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373031904	chr7:146380861-146380862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150363461	chr7:146380928-146380929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568743402	chr7:146380948-146380949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377421434	chr7:146380956-146380957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78127804	chr7:146380959-146380960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75793416	chr7:146380960-146380961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57081771	chr7:146380973-146380974	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs740808	chr7:146380994-146380995	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs186547138	chr7:146380997-146380998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553727203	chr7:146386224-146386225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10227975	chr7:146386265-146386266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576956548	chr7:146386335-146386336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373993115	chr7:146386377-146386378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181164765	chr7:146386378-146386379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545823707	chr7:146386391-146386392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562521748	chr7:146386410-146386411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75824073	chr7:146386420-146386421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542029929	chr7:146386429-146386430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186470428	chr7:146386433-146386434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189692194	chr7:146386441-146386442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574001775	chr7:146386478-146386479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544455159	chr7:146386480-146386481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547413384	chr7:146386481-146386482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546096069	chr7:146386528-146386529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564414175	chr7:146386535-146386536	Enhancers	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146380400-146381000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:146386200-146386600	Enhancers	Brain Germinal Matrix	brain
3	chr7:146386600-146386800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:146387000-146390800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:146387800-146388200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:146390800-146391400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:146395800-146396000	Enhancers	Fetal Lung	lung
8	chr7:146396200-146398000	Weak transcription	Fetal Lung	lung
9	chr7:146397200-146398000	Enhancers	Stomach Mucosa	stomach
10	chr7:146397200-146398600	Enhancers	Ovary	ovary
11	chr7:146397800-146398400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr7:146398000-146399800	Enhancers	Fetal Lung	lung
13	chr7:146398200-146398600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:146398400-146399000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:146398800-146399200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:146398800-146399200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:146406200-146406400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:146406200-146406400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:146406400-146406800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:146406400-146406800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:146406400-146407000	Enhancers	Fetal Lung	lung
22	chr7:146406400-146407400	Enhancers	Primary hematopoietic stem cells	blood
23	chr7:146406400-146407400	Enhancers	Ovary	ovary
24	chr7:146406400-146407600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr7:146406400-146407800	Enhancers	Stomach Mucosa	stomach
26	chr7:146406600-146407400	Enhancers	Pancreas	Pancrea
27	chr7:146406800-146407400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:146406800-146407400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:146407400-146407800	Weak transcription	Ovary	ovary
30	chr7:146407400-146407800	Weak transcription	Pancreas	Pancrea
31	chr7:146407800-146408200	Enhancers	Ovary	ovary
32	chr7:146407800-146408200	Enhancers	Pancreas	Pancrea
33	chr7:146410800-146417400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:146417000-146417800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:146417000-146417800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:146417400-146417600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:146417600-146417800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:146417800-146422600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:146422600-146423200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:146425800-146426400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:146425800-146426400	Enhancers	Fetal Heart	heart
42	chr7:146433400-146433600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:146433600-146433800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:146433800-146438600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:146437600-146438200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr7:146437600-146438200	ZNF genes & repeats	Aorta	Aorta
47	chr7:146438200-146438800	Enhancers	Fetal Brain Male	brain
48	chr7:146438600-146439000	Enhancers	Fetal Brain Female	brain
49	chr7:146438800-146439200	Weak transcription	Fetal Brain Male	brain
50	chr7:146439000-146439200	Weak transcription	Brain Germinal Matrix	brain

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