Variant report

Variant	nsv819371
Chromosome Location	chr7:106989749-106994381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:106992860..106994930-chr7:106997607..106999278,2	K562	blood:
2	chr7:106994327..106996140-chr7:107383081..107384626,2	K562	blood:
3	chr7:106849189..106851803-chr7:106991183..106993127,2	K562	blood:

Variant related genes	Relation type
ENSG00000241764	chromatin interactions
ENSG00000105879	chromatin interactions

Extended variants
information (count: 203 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571529874	chr7:106989751-106989752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142820117	chr7:106989754-106989755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569918340	chr7:106989780-106989781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573220458	chr7:106989844-106989845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78743954	chr7:106989862-106989863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535598249	chr7:106989903-106989904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375442660	chr7:106989928-106989929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192941755	chr7:106989929-106989930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12155231	chr7:106989971-106989972	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs553205073	chr7:106990009-106990010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548082380	chr7:106990049-106990050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543992958	chr7:106990051-106990052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564232456	chr7:106990055-106990056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560249081	chr7:106990079-106990080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577199868	chr7:106990101-106990102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370638425	chr7:106990103-106990104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113605659	chr7:106990128-106990129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184583609	chr7:106990132-106990133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529554743	chr7:106990147-106990148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189468144	chr7:106990151-106990152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531962055	chr7:106990157-106990158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180857058	chr7:106990161-106990162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185064907	chr7:106990164-106990165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570439561	chr7:106990186-106990187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200699607	chr7:106990192-106990193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537206759	chr7:106990254-106990255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544197813	chr7:106990294-106990295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189396694	chr7:106990310-106990311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535763380	chr7:106990322-106990323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12113659	chr7:106990354-106990355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149542824	chr7:106990373-106990374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377423920	chr7:106990391-106990392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538075538	chr7:106990424-106990425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557555626	chr7:106990453-106990454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577324360	chr7:106990454-106990455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539804996	chr7:106990464-106990465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2107762	chr7:106990504-106990505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552275921	chr7:106990531-106990532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143848587	chr7:106990541-106990542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568058839	chr7:106990546-106990547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542930818	chr7:106990641-106990642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563232649	chr7:106990645-106990646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531802899	chr7:106990665-106990666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181683985	chr7:106990803-106990804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148614982	chr7:106990883-106990884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527794987	chr7:106990898-106990899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142111037	chr7:106990943-106990944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186185412	chr7:106991010-106991011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530143207	chr7:106991039-106991040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374508245	chr7:106991051-106991052	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:53 , 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	chr7:106989400-106990000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:106990000-106996000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:106990200-107000400	Weak transcription	HMEC	breast
31	chr7:106990400-107000600	Weak transcription	Hela-S3	cervix
32	chr7:106990800-107000000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:106991200-106991400	Enhancers	Psoas Muscle	Psoas
34	chr7:106991200-107000000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr7:106991400-107000400	Weak transcription	Psoas Muscle	Psoas
36	chr7:106992200-106998600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:106992200-106998800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:106992600-106992800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr7:106992600-106992800	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr7:106992800-106995600	Weak transcription	Osteobl	bone
41	chr7:106992800-106998600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:106992800-106999800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr7:106993200-106999400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:106993400-106999000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr7:106993400-107000200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:106993600-106996000	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:106993600-106999600	Weak transcription	Ovary	ovary
48	chr7:106993600-106999800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr7:106993800-107000200	Weak transcription	HepG2	liver
50	chr7:106994000-106995800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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