Variant report

Variant	esv2516212
Chromosome Location	chr7:121546638-121548171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534713559	chr7:121546662-121546663	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557704434	chr7:121546663-121546664	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560036710	chr7:121546665-121546666	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373979235	chr7:121546732-121546733	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528664407	chr7:121546748-121546749	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80301835	chr7:121546786-121546787	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575571212	chr7:121546837-121546838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377652707	chr7:121546906-121546907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147892649	chr7:121546931-121546932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181651691	chr7:121546946-121546947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550567383	chr7:121546949-121546950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185089660	chr7:121546995-121546996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141130345	chr7:121547006-121547007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1206478	chr7:121547012-121547013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548843394	chr7:121547047-121547048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543548361	chr7:121547095-121547096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565769529	chr7:121547109-121547110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534835305	chr7:121547186-121547187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11463328	chr7:121547190-121547191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397752706	chr7:121547195-121547196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557641418	chr7:121547220-121547221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111832126	chr7:121547250-121547251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536707371	chr7:121547278-121547279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6974265	chr7:121547389-121547390	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs573678779	chr7:121547414-121547415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543373125	chr7:121547430-121547431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560103279	chr7:121547440-121547441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541964186	chr7:121547476-121547477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528303283	chr7:121547488-121547489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531615167	chr7:121547489-121547490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540705644	chr7:121547582-121547583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527434305	chr7:121547584-121547585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573428805	chr7:121547586-121547587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115880583	chr7:121547593-121547594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565294034	chr7:121547612-121547613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190827906	chr7:121547656-121547657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182072538	chr7:121547689-121547690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544297111	chr7:121547714-121547715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1206479	chr7:121547777-121547778	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs1206480	chr7:121547787-121547788	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546556010	chr7:121547792-121547793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186130659	chr7:121547797-121547798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs67270761	chr7:121547803-121547804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201789266	chr7:121547806-121547807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59555306	chr7:121547810-121547811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200213336	chr7:121547889-121547890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528328053	chr7:121547956-121547957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551562354	chr7:121548037-121548038	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529409254	chr7:121548061-121548062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374418638	chr7:121548090-121548091	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Myxofibrosarcoma	20639860	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121522600-121550000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:121523200-121552600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:121528000-121550000	Weak transcription	Brain Germinal Matrix	brain
4	chr7:121531200-121558200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:121532400-121549200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:121534800-121554200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:121541000-121552000	Weak transcription	NHEK	skin
8	chr7:121541200-121552200	Weak transcription	Fetal Brain Female	brain
9	chr7:121541400-121549000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:121542200-121553200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:121542400-121549000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:121543600-121549400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:121545600-121547200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:121545600-121551400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:121545600-121571400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:121545800-121549800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:121546000-121548000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:121546000-121550000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:121546000-121553600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:121546200-121549200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:121546600-121546800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:121546800-121549000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:121548000-121549200	Enhancers	Cortex derived primary cultured neurospheres	brain

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