Variant report

Variant	nsv1029946
Chromosome Location	chr7:146993413-147021947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:146993664..146995748-chr7:147006294..147008294,2	MCF-7	breast:
2	chr7:147018041..147019987-chr7:147042337..147044392,2	K562	blood:
3	chr7:146989620..146992429-chr7:146994596..146997108,3	K562	blood:
4	chr7:146993664..146995748-chr7:147006294..147008294,2	MCF-7	breast:

Extended variants
information (count: 666 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:666 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5888246	chr7:146994416-146994417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs397891086	chr7:146994423-146994424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558378185	chr7:146994438-146994439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375363930	chr7:146994458-146994459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146478483	chr7:146994464-146994465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539497265	chr7:146994467-146994468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1525213	chr7:146994534-146994535	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs7779892	chr7:146994567-146994568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6464791	chr7:146994585-146994586	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535192776	chr7:146994619-146994620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535407896	chr7:146994642-146994643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555102847	chr7:146994675-146994676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572302176	chr7:146994690-146994691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113378772	chr7:146994736-146994737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563899214	chr7:146994752-146994753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1525211	chr7:146994754-146994755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543485238	chr7:146994757-146994758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62485027	chr7:146994813-146994814	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189246748	chr7:146994832-146994833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558060933	chr7:146994877-146994878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201253735	chr7:146994880-146994881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201010388	chr7:146994882-146994883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559531803	chr7:146994983-146994984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140986004	chr7:146994995-146994996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150228128	chr7:146995000-146995001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571833000	chr7:146995015-146995016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145755939	chr7:146995026-146995027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181646642	chr7:146995029-146995030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551222458	chr7:146995061-146995062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569716581	chr7:146995072-146995073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567181190	chr7:146995079-146995080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535236860	chr7:146995128-146995129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7777057	chr7:146995177-146995178	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs370228478	chr7:146995244-146995245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534571397	chr7:146995331-146995332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557655081	chr7:146995332-146995333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577546335	chr7:146995333-146995334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185725865	chr7:146995344-146995345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190188205	chr7:146995388-146995389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574054692	chr7:146995399-146995400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574072927	chr7:146995401-146995402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372670633	chr7:146995435-146995436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542755068	chr7:146995448-146995449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373403946	chr7:146995473-146995474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182785708	chr7:146995486-146995487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58628583	chr7:146995514-146995515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs552074433	chr7:146995516-146995517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114130255	chr7:146995518-146995519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147075412	chr7:146995561-146995562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531266150	chr7:146995575-146995576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146994400-146995200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:146994600-146996400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:146994600-146996600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:146994800-146996400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:146994800-146996400	Enhancers	Osteobl	bone
6	chr7:146995000-146995800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:146995200-146995600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:146995200-146995600	Enhancers	Fetal Muscle Trunk	muscle
9	chr7:146995200-146996600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:146995400-146996400	Enhancers	Primary hematopoietic stem cells	blood
11	chr7:146995600-146996200	Enhancers	HSMMtube	muscle
12	chr7:146995600-146996400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:146995600-146996400	Enhancers	Fetal Lung	lung
14	chr7:146995800-146996400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:146996000-146996400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr7:146996000-146996400	Enhancers	Fetal Muscle Leg	muscle
17	chr7:146996000-146996400	Enhancers	Fetal Stomach	stomach
18	chr7:146996000-146996400	Enhancers	HSMM	muscle
19	chr7:146996400-146997000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:146996400-146998800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:146996400-147000000	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:146996400-147000800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:146996400-147000800	Weak transcription	Fetal Lung	lung
24	chr7:146996400-147008000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:146996600-147000800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:146997000-147000600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:146998800-147001000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:146999400-147000200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:147000000-147000200	Enhancers	Fetal Muscle Leg	muscle
30	chr7:147000200-147001000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:147000600-147002600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:147000800-147001000	Enhancers	Fetal Lung	lung
33	chr7:147000800-147001400	Enhancers	Primary hematopoietic stem cells	blood
34	chr7:147000800-147002200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:147001000-147002200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:147001400-147001800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:147001800-147002200	Enhancers	Primary hematopoietic stem cells	blood
38	chr7:147002600-147008000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:147008000-147008800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:147008000-147009000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr7:147008000-147009000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:147008400-147008800	Enhancers	Brain Hippocampus Middle	brain
43	chr7:147008400-147008800	Enhancers	Fetal Muscle Trunk	muscle

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