Variant report

Variant	nsv933440
Chromosome Location	chr7:103301959-103312307
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:103302157..103305081-chr7:103307428..103309222,2	K562	blood:
2	chr7:103308135..103310700-chr7:103389205..103391721,2	K562	blood:
3	chr7:103302444..103304759-chr7:103358804..103361595,2	K562	blood:
4	chr7:103304565..103307754-chr7:103310017..103312490,3	MCF-7	breast:
5	chr7:103298261..103300051-chr7:103303865..103306528,3	K562	blood:
6	chr7:103297074..103301566-chr7:103303216..103306956,8	K562	blood:
7	chr7:103302157..103305081-chr7:103307428..103309222,2	K562	blood:
8	chr7:103299093..103302989-chr7:103306962..103309461,4	K562	blood:
9	chr7:103254507..103256433-chr7:103303415..103304942,2	K562	blood:
10	chr7:103304565..103307754-chr7:103310017..103312490,3	MCF-7	breast:
11	chr7:103297764..103300699-chr7:103309943..103311774,3	K562	blood:
12	chr7:103305325..103307446-chr7:103308405..103311533,3	K562	blood:
13	chr7:103309641..103312329-chr7:103801017..103803175,2	K562	blood:
14	chr7:103305325..103307446-chr7:103308405..103311533,3	K562	blood:
15	chr7:103299093..103302989-chr7:103306962..103309461,4	K562	blood:
16	chr7:103297558..103299544-chr7:103301065..103303822,2	K562	blood:
17	chr7:103298022..103299710-chr7:103300574..103302831,2	K562	blood:

No data

Extended variants
information (count: 390 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369642019	chr7:103301981-103301982	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146986040	chr7:103301985-103301986	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543063078	chr7:103302028-103302029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560950128	chr7:103302046-103302047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11974290	chr7:103302117-103302118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549686385	chr7:103302135-103302136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187999683	chr7:103302136-103302137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536352540	chr7:103302152-103302153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537221782	chr7:103302173-103302174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193057552	chr7:103302174-103302175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150382591	chr7:103302216-103302217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138064329	chr7:103302222-103302223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535962778	chr7:103302236-103302237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185772816	chr7:103302255-103302256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569636210	chr7:103302262-103302263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11974325	chr7:103302279-103302280	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573899043	chr7:103302292-103302293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78480421	chr7:103302322-103302323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371004537	chr7:103302349-103302350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578260220	chr7:103302376-103302377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187392378	chr7:103302540-103302541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192180813	chr7:103302563-103302564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11975158	chr7:103302629-103302630	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10242211	chr7:103302665-103302666	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545909097	chr7:103302749-103302750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561458753	chr7:103302750-103302751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6950480	chr7:103302791-103302792	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs4377881	chr7:103302817-103302818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149533452	chr7:103302843-103302844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564694925	chr7:103302844-103302845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147204211	chr7:103302851-103302852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112017933	chr7:103302874-103302875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565350164	chr7:103302888-103302889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529675257	chr7:103302933-103302934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543720973	chr7:103302941-103302942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373784014	chr7:103302962-103302963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536738694	chr7:103302985-103302986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561905522	chr7:103302998-103302999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13238300	chr7:103303067-103303068	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs112276058	chr7:103303068-103303069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11414600	chr7:103303073-103303074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs55654544	chr7:103303092-103303093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539364905	chr7:103303128-103303129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13238565	chr7:103303130-103303131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2382879	chr7:103303136-103303137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs114399266	chr7:103303206-103303207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13238689	chr7:103303227-103303228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559223664	chr7:103303270-103303271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2382880	chr7:103303355-103303356	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs148513520	chr7:103303359-103303360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Gastric cancer	24379144	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
Prostate cancer	16461572	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
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	21147910	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103298200-103305000	Enhancers	HepG2	liver
2	chr7:103300600-103303200	Enhancers	Hela-S3	cervix
3	chr7:103300800-103302000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:103300800-103302000	Enhancers	A549	lung
5	chr7:103300800-103302000	Enhancers	HMEC	breast
6	chr7:103300800-103302000	Genic enhancers	K562	blood
7	chr7:103301000-103302000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:103301400-103302000	Enhancers	Placenta	Placenta
9	chr7:103302000-103302400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:103302000-103303000	Weak transcription	K562	blood
11	chr7:103302400-103303000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:103303000-103304400	Enhancers	K562	blood
13	chr7:103303200-103306600	Weak transcription	Hela-S3	cervix
14	chr7:103305000-103313400	Weak transcription	HepG2	liver
15	chr7:103306600-103307800	Enhancers	Hela-S3	cervix
16	chr7:103308800-103309800	Enhancers	Pancreatic Islets	Pancreatic Islet

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