Variant report

Variant	esv2421625
Chromosome Location	chr7:87670739-87672392
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	chr7:87665716..87668051-chr7:87668778..87671387,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 77 )

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	rs10279744	chr7:87670741-87670742	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188056523	chr7:87670812-87670813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191097918	chr7:87670822-87670823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577208608	chr7:87670824-87670825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78923223	chr7:87670836-87670837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368307775	chr7:87670841-87670842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563237019	chr7:87670865-87670866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575269048	chr7:87670885-87670886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183407214	chr7:87670909-87670910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187260051	chr7:87670924-87670925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528425845	chr7:87670947-87670948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146241798	chr7:87670992-87670993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148492132	chr7:87671026-87671027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142674507	chr7:87671187-87671188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371191272	chr7:87671193-87671194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551753278	chr7:87671259-87671260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570075100	chr7:87671261-87671262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537518930	chr7:87671306-87671307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549339174	chr7:87671314-87671315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2024018	chr7:87671335-87671336	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192106026	chr7:87671375-87671376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73202335	chr7:87671442-87671443	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150938574	chr7:87671462-87671463	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs538267382	chr7:87671463-87671464	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs139474891	chr7:87671469-87671470	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs149657663	chr7:87671475-87671476	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs184547577	chr7:87671501-87671502	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs147800788	chr7:87671528-87671529	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs573068031	chr7:87671555-87671556	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs187725209	chr7:87671567-87671568	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs112144274	chr7:87671589-87671590	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs565181370	chr7:87671613-87671614	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs532421876	chr7:87671620-87671621	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs141182925	chr7:87671688-87671689	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs376407284	chr7:87671696-87671697	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs200291568	chr7:87671740-87671741	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs200355920	chr7:87671741-87671742	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs370020056	chr7:87671814-87671815	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs564793478	chr7:87671960-87671961	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs533600746	chr7:87671975-87671976	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs146870538	chr7:87671993-87671994	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs528641508	chr7:87672002-87672003	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs567381912	chr7:87672004-87672005	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs374442818	chr7:87672012-87672013	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs7802934	chr7:87672045-87672046	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546759761	chr7:87672080-87672081	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs571620646	chr7:87672088-87672089	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs368838356	chr7:87672095-87672096	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs570360325	chr7:87672117-87672118	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs538929101	chr7:87672135-87672136	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	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
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87663000-87671200	Weak transcription	Dnd41	blood
2	chr7:87669000-87671400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:87670000-87672000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:87670200-87671600	Weak transcription	Adipose Nuclei	Adipose
5	chr7:87670600-87675000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:87671000-87671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:87671000-87671800	Enhancers	Brain Angular Gyrus	brain
8	chr7:87671200-87672000	Enhancers	Dnd41	blood
9	chr7:87671400-87671600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:87671400-87671800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:87671400-87672000	Active TSS	GM12878-XiMat	blood
12	chr7:87671400-87672200	Enhancers	Brain Hippocampus Middle	brain
13	chr7:87671400-87674800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:87671600-87672000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:87671600-87672200	Enhancers	Adipose Nuclei	Adipose
16	chr7:87671600-87672200	Enhancers	Brain Anterior Caudate	brain
17	chr7:87671800-87672000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:87671800-87672000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:87671800-87675000	Weak transcription	Brain Angular Gyrus	brain
20	chr7:87672000-87672200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:87672000-87672200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:87672000-87672200	Flanking Active TSS	GM12878-XiMat	blood
23	chr7:87672000-87674800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:87672200-87672400	Enhancers	GM12878-XiMat	blood
25	chr7:87672200-87674600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:87672200-87674800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:87672200-87674800	Weak transcription	Adipose Nuclei	Adipose
28	chr7:87672200-87674800	Weak transcription	Brain Anterior Caudate	brain
29	chr7:87672200-87674800	Weak transcription	Brain Hippocampus Middle	brain

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