Variant report

Variant	esv3384260
Chromosome Location	chr7:117277612-117278579
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	7:115847372-115857098..7:117274956-117280199	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000135269	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 85 )

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	rs36042090	chr7:117277623-117277624	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373007787	chr7:117277658-117277659	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148866047	chr7:117277659-117277660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557753126	chr7:117277681-117277682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371729144	chr7:117277728-117277729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376739225	chr7:117277757-117277758	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544535177	chr7:117277759-117277760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376509543	chr7:117277792-117277793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567527132	chr7:117277848-117277849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189608196	chr7:117277887-117277888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35244428	chr7:117277926-117277927	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562859536	chr7:117277983-117277984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374091275	chr7:117278035-117278036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560343193	chr7:117278037-117278038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527744866	chr7:117278040-117278041	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552263488	chr7:117278071-117278072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375644108	chr7:117278091-117278092	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570708930	chr7:117278115-117278116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374140605	chr7:117278145-117278146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531726883	chr7:117278155-117278156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs549944519	chr7:117278197-117278198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568327524	chr7:117278234-117278235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538514288	chr7:117278254-117278255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs13231082	chr7:117278303-117278304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs552744747	chr7:117278384-117278385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535409990	chr7:117278388-117278389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs553983301	chr7:117278452-117278453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs566703303	chr7:117278465-117278466	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565900120	chr7:117278500-117278501	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs117834826	chr7:117278517-117278518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370043432	chr7:117278527-117278528	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35637601	chr7:117278528-117278529	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs538746324	chr7:117278556-117278557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369856520	chr7:117278562-117278563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs7779015	chr7:117278565-117278566	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117245200-117294000	Weak transcription	Pancreas	Pancrea
2	chr7:117258200-117286600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:117269400-117283000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:117270800-117285600	Weak transcription	Stomach Mucosa	stomach
5	chr7:117271600-117285600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:117271800-117281600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:117271800-117285600	Weak transcription	Fetal Intestine Large	intestine
8	chr7:117272600-117286600	Weak transcription	Fetal Intestine Small	intestine
9	chr7:117274600-117287400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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