Variant report

Variant	nsv526091
Chromosome Location	chr7:79853447-79854751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10247757	chr7:79853447-79853448	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557295029	chr7:79853462-79853463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553415303	chr7:79853484-79853485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572089275	chr7:79853506-79853507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545320089	chr7:79853530-79853531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183687389	chr7:79853601-79853602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555991550	chr7:79853709-79853710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188561859	chr7:79853710-79853711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541178254	chr7:79853716-79853717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560971314	chr7:79853830-79853831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12113915	chr7:79853832-79853833	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs139070152	chr7:79853854-79853855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569663957	chr7:79853872-79853873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531998493	chr7:79853940-79853941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190598394	chr7:79853960-79853961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559466635	chr7:79854010-79854011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566031009	chr7:79854030-79854031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183504969	chr7:79854095-79854096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370877133	chr7:79854234-79854235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187784994	chr7:79854286-79854287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370561374	chr7:79854304-79854305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34341312	chr7:79854314-79854315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10555768	chr7:79854338-79854339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79480578	chr7:79854339-79854340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398067013	chr7:79854341-79854342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144048994	chr7:79854388-79854389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557159559	chr7:79854468-79854469	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs577207274	chr7:79854490-79854491	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs373885367	chr7:79854508-79854509	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs558815749	chr7:79854510-79854511	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs572326893	chr7:79854527-79854528	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs146414068	chr7:79854592-79854593	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs561039397	chr7:79854654-79854655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191495761	chr7:79854750-79854751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2886612	chr7:79854751-79854752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79815200-79859600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:79816400-79854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:79820600-79853800	Weak transcription	Left Ventricle	heart
4	chr7:79825400-79856600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:79831000-79853800	Weak transcription	Gastric	stomach
6	chr7:79831800-79861200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:79832400-79855000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:79836000-79859600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:79836600-79861000	Weak transcription	HSMMtube	muscle
10	chr7:79840000-79853800	Weak transcription	Brain Anterior Caudate	brain
11	chr7:79841200-79853800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:79841200-79854000	Weak transcription	Fetal Intestine Small	intestine
13	chr7:79842800-79853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:79843000-79862800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:79843400-79853800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:79843800-79853600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:79844400-79853600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:79845800-79853600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:79845800-79853800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:79846800-79861000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:79847000-79853600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:79847000-79853800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:79847200-79853800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:79847200-79853800	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:79847200-79854800	Weak transcription	Fetal Kidney	kidney
26	chr7:79847400-79854400	Weak transcription	NHDF-Ad	bronchial
27	chr7:79848600-79854400	Weak transcription	Osteobl	bone
28	chr7:79848800-79860600	Weak transcription	NHEK	skin
29	chr7:79849000-79853800	Weak transcription	Brain Angular Gyrus	brain
30	chr7:79849000-79854400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:79849200-79853600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:79849200-79853600	Weak transcription	Placenta	Placenta
33	chr7:79849200-79854000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:79849200-79859600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:79849400-79854400	Weak transcription	HSMM	muscle
36	chr7:79849400-79859400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:79849400-79860600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:79849600-79853600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:79849600-79853600	Weak transcription	Fetal Brain Male	brain
40	chr7:79849600-79853800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:79849600-79854800	Weak transcription	Ovary	ovary
42	chr7:79849600-79859600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:79849600-79860600	Weak transcription	HMEC	breast
44	chr7:79850000-79854400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:79850000-79857400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:79850200-79860600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:79850200-79861000	Weak transcription	NHLF	lung
48	chr7:79850400-79853600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:79850400-79855800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:79850400-79866200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links