Variant report

Variant	nsv933167
Chromosome Location	chr7:103312181-103322483
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:103317265..103318877-chr7:103327937..103330209,2	K562	blood:
2	chr7:103309641..103312329-chr7:103801017..103803175,2	K562	blood:
3	chr7:103320659..103322391-chr7:103324017..103325552,2	K562	blood:
4	chr7:103313058..103315600-chr7:103766420..103769012,2	K562	blood:
5	chr7:103319857..103322133-chr7:103324441..103326185,2	K562	blood:
6	chr7:103313587..103316408-chr7:103317847..103320002,2	K562	blood:
7	chr7:103299107..103301619-chr7:103313448..103316125,2	K562	blood:
8	chr7:103304565..103307754-chr7:103310017..103312490,3	MCF-7	breast:
9	chr7:103313587..103316408-chr7:103317847..103320002,2	K562	blood:

No data

Extended variants
information (count: 462 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531106606	chr7:103312184-103312185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12705138	chr7:103312245-103312246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564462879	chr7:103312261-103312262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528591103	chr7:103312297-103312298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374954269	chr7:103312306-103312307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117476683	chr7:103312309-103312310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528463211	chr7:103312326-103312327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533769031	chr7:103312338-103312339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550795075	chr7:103312381-103312382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569178785	chr7:103312384-103312385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539705437	chr7:103312408-103312409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187428893	chr7:103312417-103312418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2106174	chr7:103312428-103312429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114140286	chr7:103312469-103312470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570935667	chr7:103312491-103312492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533533402	chr7:103312518-103312519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555472973	chr7:103312545-103312546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533322741	chr7:103312546-103312547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73408773	chr7:103312553-103312554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs555497535	chr7:103312555-103312556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73408776	chr7:103312601-103312602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs6975465	chr7:103312638-103312639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115120688	chr7:103312646-103312647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564343224	chr7:103312670-103312671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528511938	chr7:103312702-103312703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78169354	chr7:103312754-103312755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562258972	chr7:103312756-103312757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150215211	chr7:103312765-103312766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34980050	chr7:103312774-103312775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138823047	chr7:103312806-103312807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35347802	chr7:103312868-103312869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567289416	chr7:103312870-103312871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6958285	chr7:103312891-103312892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs551298058	chr7:103312951-103312952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193173080	chr7:103312958-103312959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569470207	chr7:103312970-103312971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536886236	chr7:103312980-103312981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537937462	chr7:103312986-103312987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182807760	chr7:103312993-103312994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188277970	chr7:103313019-103313020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377396308	chr7:103313094-103313095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533825593	chr7:103313109-103313110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555064112	chr7:103313133-103313134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76399689	chr7:103313135-103313136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367882025	chr7:103313145-103313146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572923435	chr7:103313248-103313249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141930231	chr7:103313249-103313250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11979780	chr7:103313266-103313267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs146394996	chr7:103313287-103313288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577878596	chr7:103313305-103313306	Weak transcription	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103305000-103313400	Weak transcription	HepG2	liver
2	chr7:103313400-103314400	Enhancers	HepG2	liver
3	chr7:103314400-103319800	Weak transcription	HepG2	liver
4	chr7:103314800-103315200	Enhancers	Pancreas	Pancrea
5	chr7:103318800-103319400	Enhancers	Fetal Brain Female	brain
6	chr7:103319200-103321400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:103319200-103321400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:103319400-103319800	Enhancers	Fetal Brain Male	brain
9	chr7:103319400-103321800	Enhancers	Osteobl	bone
10	chr7:103319600-103320600	Enhancers	Brain Germinal Matrix	brain
11	chr7:103319600-103323200	Enhancers	Hela-S3	cervix
12	chr7:103319800-103320400	Enhancers	Brain Cingulate Gyrus	brain
13	chr7:103319800-103321400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:103319800-103321400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:103319800-103321600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:103319800-103322200	Enhancers	HepG2	liver
17	chr7:103320000-103321000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:103320400-103321600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:103320400-103321600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:103320600-103321600	Enhancers	NHDF-Ad	bronchial
21	chr7:103320600-103321800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:103320800-103321600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:103320800-103321800	Enhancers	K562	blood
24	chr7:103321200-103321400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:103321200-103321600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:103321400-103329800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:103321800-103323000	Weak transcription	Osteobl	bone
28	chr7:103321800-103330800	Weak transcription	K562	blood
29	chr7:103322200-103328800	Weak transcription	HepG2	liver

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