Variant report

Variant	esv3417944
Chromosome Location	chr7:110283844-110284408
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	chr7:110283093..110285639-chr7:111200637..111202273,2	K562	blood:

Variant related genes	Relation type
ENSG00000184903	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532584647	chr7:110283863-110283864	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546097042	chr7:110283875-110283876	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs1734240	chr7:110283903-110283904	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs139993032	chr7:110283912-110283913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1734241	chr7:110283928-110283929	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548073735	chr7:110283973-110283974	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1723748	chr7:110284006-110284007	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184199595	chr7:110284053-110284054	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12535109	chr7:110284071-110284072	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142221872	chr7:110284145-110284146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78213960	chr7:110284147-110284148	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552562600	chr7:110284157-110284158	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373847035	chr7:110284208-110284209	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1404921	chr7:110284245-110284246	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187687263	chr7:110284253-110284254	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140107239	chr7:110284256-110284257	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79157542	chr7:110284261-110284262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150289397	chr7:110284280-110284281	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557518323	chr7:110284286-110284287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577436474	chr7:110284287-110284288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs1404920	chr7:110284289-110284290	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs559706491	chr7:110284362-110284363	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189810975	chr7:110284371-110284372	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs542154277	chr7:110284384-110284385	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links