Variant report

Variant	nsv824250
Chromosome Location	chr7:106991048-106994287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:106849189..106851803-chr7:106991183..106993127,2	K562	blood:
2	chr7:106992860..106994930-chr7:106997607..106999278,2	K562	blood:

Extended variants
information (count: 149 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374508245	chr7:106991051-106991052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548988236	chr7:106991056-106991057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191452030	chr7:106991070-106991071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116354160	chr7:106991154-106991155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557944552	chr7:106991156-106991157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115395185	chr7:106991158-106991159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528742769	chr7:106991196-106991197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552091136	chr7:106991321-106991322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139666880	chr7:106991333-106991334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181411471	chr7:106991355-106991356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556576235	chr7:106991376-106991377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186177193	chr7:106991377-106991378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545231200	chr7:106991427-106991428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373716636	chr7:106991440-106991441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201843400	chr7:106991495-106991496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553594329	chr7:106991512-106991513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144434509	chr7:106991518-106991519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191215155	chr7:106991532-106991533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541514174	chr7:106991536-106991537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182175275	chr7:106991656-106991657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530029600	chr7:106991680-106991681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550193140	chr7:106991711-106991712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367673489	chr7:106991718-106991719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531651759	chr7:106991742-106991743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551261418	chr7:106991755-106991756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571090304	chr7:106991774-106991775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533773555	chr7:106991776-106991777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553442285	chr7:106991779-106991780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567069857	chr7:106991802-106991803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187895003	chr7:106991803-106991804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190811110	chr7:106991867-106991868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183107484	chr7:106991874-106991875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577646310	chr7:106991875-106991876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544610199	chr7:106991889-106991890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545705806	chr7:106991951-106991952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559318600	chr7:106991964-106991965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375147347	chr7:106991968-106991969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541682686	chr7:106991969-106991970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561362550	chr7:106992021-106992022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530224264	chr7:106992025-106992026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141082497	chr7:106992057-106992058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573112798	chr7:106992059-106992060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563724649	chr7:106992065-106992066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562950781	chr7:106992091-106992092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149852242	chr7:106992130-106992131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564878206	chr7:106992172-106992173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200096192	chr7:106992215-106992216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10278784	chr7:106992223-106992224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527480284	chr7:106992276-106992277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547193834	chr7:106992313-106992314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106888800-106999400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:106923800-106999400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:106946200-106999800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:106946400-106999400	Weak transcription	Pancreas	Pancrea
5	chr7:106953800-106999400	Weak transcription	Left Ventricle	heart
6	chr7:106965400-106998000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:106967800-106999800	Weak transcription	Fetal Heart	heart
8	chr7:106973800-106996000	Weak transcription	Primary T cells from cord blood	blood
9	chr7:106973800-106998200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:106974000-106998000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:106974600-106999400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:106982400-106999800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:106984000-106999800	Weak transcription	Aorta	Aorta
14	chr7:106984200-106996000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:106984400-107006200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:106984800-106992600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:106984800-106998800	Weak transcription	Fetal Intestine Large	intestine
18	chr7:106984800-106999200	Weak transcription	Primary B cells from cord blood	blood
19	chr7:106985200-106999400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:106985200-106999400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:106985200-106999400	Weak transcription	Fetal Intestine Small	intestine
22	chr7:106985600-106999000	Weak transcription	Dnd41	blood
23	chr7:106985800-106995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:106986000-107013200	Weak transcription	Small Intestine	intestine
25	chr7:106987400-106998200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr7:106988600-106998800	Weak transcription	K562	blood
27	chr7:106989200-107018800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:106990000-106996000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:106990200-107000400	Weak transcription	HMEC	breast
30	chr7:106990400-107000600	Weak transcription	Hela-S3	cervix
31	chr7:106990800-107000000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:106991200-106991400	Enhancers	Psoas Muscle	Psoas
33	chr7:106991200-107000000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:106991400-107000400	Weak transcription	Psoas Muscle	Psoas
35	chr7:106992200-106998600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:106992200-106998800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:106992600-106992800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr7:106992600-106992800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr7:106992800-106995600	Weak transcription	Osteobl	bone
40	chr7:106992800-106998600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:106992800-106999800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:106993200-106999400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:106993400-106999000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr7:106993400-107000200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:106993600-106996000	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:106993600-106999600	Weak transcription	Ovary	ovary
47	chr7:106993600-106999800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr7:106993800-107000200	Weak transcription	HepG2	liver
49	chr7:106994000-106995800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:106994200-106994400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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