Variant report

Variant	nsv971218
Chromosome Location	chr7:103561948-103585213
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:103557671..103561484-chr7:103568838..103571877,3	K562	blood:
2	chr7:103580049..103581812-chr7:103595341..103598301,2	K562	blood:
3	chr7:103532058..103533775-chr7:103563141..103565632,2	K562	blood:
4	chr7:103574683..103576382-chr7:103587252..103589480,2	K562	blood:
5	chr7:103558397..103560497-chr7:103570377..103574513,3	K562	blood:
6	chr7:103562037..103563757-chr7:103575522..103577344,2	K562	blood:
7	chr7:103567609..103572378-chr7:103572884..103577140,9	K562	blood:
8	chr7:103545125..103546646-chr7:103570304..103572979,2	K562	blood:
9	chr7:103560989..103563112-chr7:103570075..103571747,2	K562	blood:
10	chr7:103562037..103563757-chr7:103575522..103577344,2	K562	blood:
11	chr7:103581356..103582856-chr7:103585728..103588063,2	K562	blood:
12	chr7:103567609..103572378-chr7:103572884..103577140,9	K562	blood:
13	chr7:103558002..103560953-chr7:103574688..103576849,2	K562	blood:
14	chr7:103575744..103578480-chr7:103589685..103593226,3	K562	blood:
15	chr7:103553214..103555201-chr7:103575018..103577622,2	K562	blood:
16	chr7:103564555..103566285-chr7:103650093..103652730,2	K562	blood:
17	chr7:103560989..103563112-chr7:103570075..103571747,2	K562	blood:
18	chr7:103576100..103578480-chr7:103589685..103592644,2	K562	blood:
19	chr7:103559557..103561954-chr7:103587104..103589097,2	K562	blood:
20	chr7:103510796..103513502-chr7:103565026..103567236,2	K562	blood:
21	chr7:103561421..103564064-chr7:103629667..103633796,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000189056	chromatin interactions

Extended variants
information (count: 929 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:929 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372837627	chr7:103561969-103561970	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570249433	chr7:103561977-103561978	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138605131	chr7:103561989-103561990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116370516	chr7:103562028-103562029	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs55833200	chr7:103562035-103562036	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs756434	chr7:103562036-103562037	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs114079971	chr7:103562089-103562090	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs386716383	chr7:103562111-103562112	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs756435	chr7:103562112-103562113	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs368643908	chr7:103562141-103562142	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs117893897	chr7:103562155-103562156	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559073048	chr7:103562234-103562235	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141599561	chr7:103562241-103562242	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs146208912	chr7:103562245-103562246	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs58751603	chr7:103562258-103562259	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574596482	chr7:103562275-103562276	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112573534	chr7:103562290-103562291	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs58062233	chr7:103562292-103562293	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139120729	chr7:103562341-103562342	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190342438	chr7:103562350-103562351	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78728005	chr7:103562440-103562441	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs756436	chr7:103562444-103562445	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546662482	chr7:103562469-103562470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528209216	chr7:103562474-103562475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10277802	chr7:103562551-103562552	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547917063	chr7:103562617-103562618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532399373	chr7:103562647-103562648	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568051559	chr7:103562716-103562717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368277303	chr7:103562752-103562753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs10277860	chr7:103562762-103562763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113228864	chr7:103562790-103562791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548854948	chr7:103562798-103562799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371169809	chr7:103562818-103562819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537613190	chr7:103562830-103562831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs144183608	chr7:103562886-103562887	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs533396161	chr7:103562898-103562899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111409328	chr7:103562927-103562928	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550913094	chr7:103563009-103563010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs550212227	chr7:103563073-103563074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs148679570	chr7:103563077-103563078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs553235932	chr7:103563112-103563113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs574765492	chr7:103563124-103563125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs7792066	chr7:103563145-103563146	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563222974	chr7:103563146-103563147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182111232	chr7:103563173-103563174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575186778	chr7:103563206-103563207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs142168776	chr7:103563216-103563217	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs73712299	chr7:103563222-103563223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528127363	chr7:103563228-103563229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185998698	chr7:103563260-103563261	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
lymphocytic leukemia	21291569	CNVD
Prostate cancer	21147910	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103556800-103574400	Weak transcription	HepG2	liver
2	chr7:103561600-103564400	Enhancers	K562	blood
3	chr7:103562000-103562400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:103564400-103564800	Weak transcription	K562	blood
5	chr7:103564800-103565000	Enhancers	K562	blood
6	chr7:103565000-103571600	Weak transcription	K562	blood
7	chr7:103570200-103570800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:103570600-103571800	Enhancers	Fetal Brain Male	brain
9	chr7:103571600-103572200	Strong transcription	K562	blood
10	chr7:103572200-103574000	Weak transcription	K562	blood
11	chr7:103574000-103574600	Enhancers	K562	blood
12	chr7:103574400-103575400	Strong transcription	HepG2	liver
13	chr7:103574600-103590200	Weak transcription	K562	blood
14	chr7:103574800-103575400	Enhancers	Brain Anterior Caudate	brain
15	chr7:103575400-103582800	Weak transcription	HepG2	liver
16	chr7:103576800-103577400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:103577400-103580800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:103580600-103581800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:103580800-103581800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:103582800-103583200	Enhancers	HepG2	liver
21	chr7:103583200-103584800	Weak transcription	HepG2	liver
22	chr7:103584400-103584600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:103584800-103585400	Strong transcription	HepG2	liver
24	chr7:103584800-103596800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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