Variant report

Variant	nsv508464
Chromosome Location	chr7:83698939-83714150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83702133..83704652-chr7:83714505..83716977,2	K562	blood:

Extended variants
information (count: 564 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538520253	chr7:83698942-83698943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556940995	chr7:83698955-83698956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534250664	chr7:83698966-83698967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10638305	chr7:83699045-83699046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3839785	chr7:83699046-83699047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575289143	chr7:83699047-83699048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112548275	chr7:83699048-83699049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397822947	chr7:83699049-83699050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368387312	chr7:83699050-83699051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372386471	chr7:83699051-83699052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536284700	chr7:83699059-83699060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554618337	chr7:83699071-83699072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573914854	chr7:83699087-83699088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572869758	chr7:83699120-83699121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73378827	chr7:83699126-83699127	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs17158564	chr7:83699172-83699173	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577006043	chr7:83699225-83699226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111326666	chr7:83699232-83699233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556621759	chr7:83699256-83699257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530022211	chr7:83699322-83699323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548144593	chr7:83699366-83699367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560117179	chr7:83699377-83699378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370013667	chr7:83699416-83699417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57150653	chr7:83699450-83699451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs397949622	chr7:83699451-83699452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146813811	chr7:83699467-83699468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113115861	chr7:83699484-83699485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552430614	chr7:83699485-83699486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10243933	chr7:83699487-83699488	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538082787	chr7:83699505-83699506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550478326	chr7:83699565-83699566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568734053	chr7:83699609-83699610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199568392	chr7:83699655-83699656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554561112	chr7:83699671-83699672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17296151	chr7:83699733-83699734	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs113198080	chr7:83699752-83699753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189152071	chr7:83699758-83699759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146053058	chr7:83699774-83699775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576947702	chr7:83699786-83699787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114071336	chr7:83699901-83699902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555956617	chr7:83699932-83699933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574363770	chr7:83699933-83699934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541730519	chr7:83699986-83699987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114601880	chr7:83700017-83700018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372602540	chr7:83700123-83700124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527731914	chr7:83700146-83700147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546254800	chr7:83700173-83700174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139326425	chr7:83700184-83700185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149919778	chr7:83700222-83700223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117073700	chr7:83700333-83700334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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
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
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83673800-83707600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:83689800-83714400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:83690600-83714600	Weak transcription	NHDF-Ad	bronchial
4	chr7:83690800-83702800	Weak transcription	NHLF	lung
5	chr7:83691400-83703000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:83692000-83702600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:83692200-83714600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:83698000-83699400	Enhancers	Fetal Heart	heart
9	chr7:83698200-83701000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:83698200-83707600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:83698400-83708200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:83698600-83710400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:83698600-83715400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:83698800-83700000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:83699000-83700000	Weak transcription	Adipose Nuclei	Adipose
16	chr7:83699400-83700400	Weak transcription	Fetal Heart	heart
17	chr7:83699400-83700600	Enhancers	Dnd41	blood
18	chr7:83699800-83700200	Enhancers	HUVEC	blood vessel
19	chr7:83700000-83700400	Enhancers	Adipose Nuclei	Adipose
20	chr7:83700000-83700600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:83700000-83700800	Enhancers	A549	lung
22	chr7:83700000-83700800	Enhancers	HepG2	liver
23	chr7:83700200-83702600	Weak transcription	HUVEC	blood vessel
24	chr7:83700400-83700600	Enhancers	Fetal Heart	heart
25	chr7:83700600-83702600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:83700600-83702800	Weak transcription	Dnd41	blood
27	chr7:83700800-83702600	Weak transcription	A549	lung
28	chr7:83702400-83702800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:83702400-83703600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:83702400-83703600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:83702600-83702800	Enhancers	Fetal Brain Male	brain
32	chr7:83702600-83703200	Enhancers	Colon Smooth Muscle	Colon
33	chr7:83702600-83703200	Enhancers	A549	lung
34	chr7:83702600-83703200	Enhancers	HUVEC	blood vessel
35	chr7:83702600-83703400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:83702600-83703600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:83702600-83703800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:83702600-83703800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:83702800-83703000	Enhancers	NHLF	lung
40	chr7:83702800-83703200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:83702800-83703200	Enhancers	Brain Substantia Nigra	brain
42	chr7:83702800-83703200	Enhancers	NH-A	brain
43	chr7:83702800-83703400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:83702800-83703400	Enhancers	Dnd41	blood
45	chr7:83702800-83703600	Enhancers	Osteobl	bone
46	chr7:83702800-83707200	Weak transcription	Fetal Brain Male	brain
47	chr7:83703000-83703200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:83703000-83703600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr7:83703200-83703600	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:83703200-83703800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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