Variant report

Variant	esv1843775
Chromosome Location	chr7:126527812-126531028
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144987954	chr7:126527814-126527815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138718082	chr7:126527849-126527850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368071928	chr7:126527853-126527854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570746337	chr7:126527931-126527932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149442355	chr7:126528036-126528037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553472989	chr7:126528074-126528075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571763906	chr7:126528076-126528077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535855703	chr7:126528094-126528095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562684057	chr7:126528123-126528124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184545926	chr7:126528148-126528149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575988869	chr7:126528185-126528186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543384455	chr7:126528250-126528251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565150080	chr7:126528262-126528263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577131610	chr7:126528270-126528271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541178203	chr7:126528271-126528272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559895371	chr7:126528331-126528332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189992831	chr7:126528345-126528346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548659667	chr7:126528346-126528347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576189624	chr7:126528357-126528358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563560061	chr7:126528393-126528394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2021162	chr7:126528455-126528456	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552611228	chr7:126528461-126528462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570782805	chr7:126528472-126528473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534894172	chr7:126528505-126528506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546751620	chr7:126528562-126528563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181673721	chr7:126528606-126528607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184827535	chr7:126528630-126528631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557095833	chr7:126528632-126528633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2109739	chr7:126528686-126528687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148148461	chr7:126528721-126528722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575960544	chr7:126528838-126528839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189981729	chr7:126528844-126528845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558575800	chr7:126528845-126528846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577167644	chr7:126528858-126528859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78419376	chr7:126528899-126528900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377632361	chr7:126528920-126528921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561803778	chr7:126528930-126528931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181184210	chr7:126528985-126528986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185492311	chr7:126528987-126528988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564579558	chr7:126528996-126528997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141090041	chr7:126528998-126528999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574662958	chr7:126529023-126529024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527582370	chr7:126529024-126529025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528843299	chr7:126529078-126529079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541993450	chr7:126529080-126529081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563769324	chr7:126529091-126529092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369687576	chr7:126529143-126529144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530834260	chr7:126529188-126529189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546132901	chr7:126529201-126529202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546547760	chr7:126529208-126529209	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	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
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126527000-126529600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr7:126527600-126528000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:126527600-126528200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:126527600-126528600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:126527800-126528200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:126527800-126528600	Enhancers	Brain Anterior Caudate	brain
7	chr7:126528000-126528400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:126528200-126528800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:126528600-126529000	Enhancers	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links