Variant report

Variant	esv3346397
Chromosome Location	chr7:87687350-87702944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:87698699..87701449-chr7:87702141..87704142,2	K562	blood:
2	chr5:66002640..66003163-chr7:87702410..87703053,2	MCF-7	breast:
3	chr7:87702607..87705173-chr7:89180961..89183467,2	K562	blood:
4	chr7:87698699..87701449-chr7:87702141..87704142,2	K562	blood:

Extended variants
information (count: 527 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:527 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371364025	chr7:87687358-87687359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537743323	chr7:87687388-87687389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550599993	chr7:87687390-87687391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568918916	chr7:87687397-87687398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73706962	chr7:87687415-87687416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539393772	chr7:87687420-87687421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554787861	chr7:87687437-87687438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181397802	chr7:87687456-87687457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547704395	chr7:87687528-87687529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2282951	chr7:87687549-87687550	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs535140740	chr7:87687574-87687575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559086213	chr7:87687679-87687680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577660322	chr7:87687697-87687698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544913074	chr7:87687704-87687705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142256416	chr7:87687781-87687782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77955070	chr7:87687809-87687810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17339594	chr7:87687846-87687847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147903416	chr7:87687950-87687951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13245672	chr7:87688046-87688047	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186903211	chr7:87688077-87688078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534772633	chr7:87688102-87688103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17150178	chr7:87688122-87688123	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531362302	chr7:87688137-87688138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553305963	chr7:87688144-87688145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191649475	chr7:87688153-87688154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181836489	chr7:87688157-87688158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10487006	chr7:87688173-87688174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs536265931	chr7:87688226-87688227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186451212	chr7:87688233-87688234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566881071	chr7:87688301-87688302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534297665	chr7:87688309-87688310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376081267	chr7:87688346-87688347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375247805	chr7:87688373-87688374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62486383	chr7:87688375-87688376	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs577524588	chr7:87688380-87688381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141640200	chr7:87688409-87688410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557377972	chr7:87688435-87688436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556920611	chr7:87688455-87688456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191192783	chr7:87688503-87688504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541487037	chr7:87688534-87688535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116520901	chr7:87688537-87688538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575723801	chr7:87688545-87688546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76257110	chr7:87688546-87688547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572084920	chr7:87688596-87688597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145265394	chr7:87688616-87688617	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147610307	chr7:87688634-87688635	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182281176	chr7:87688635-87688636	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542779420	chr7:87688681-87688682	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373007548	chr7:87688716-87688717	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561682041	chr7:87688807-87688808	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87676800-87688600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:87685800-87688800	Enhancers	Fetal Lung	lung
3	chr7:87686000-87690200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:87686800-87688400	Enhancers	Brain Angular Gyrus	brain
5	chr7:87687000-87687400	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:87687400-87688200	Enhancers	Brain Hippocampus Middle	brain
7	chr7:87688600-87689200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:87688800-87698000	Weak transcription	Fetal Lung	lung
9	chr7:87689200-87690400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:87691200-87691600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr7:87691200-87691800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:87691200-87692400	Enhancers	Primary T cells from cord blood	blood
13	chr7:87691400-87692200	Enhancers	Fetal Thymus	thymus
14	chr7:87698000-87698200	ZNF genes & repeats	Fetal Lung	lung
15	chr7:87698200-87700000	Weak transcription	Fetal Lung	lung
16	chr7:87700000-87700600	Enhancers	Fetal Lung	lung
17	chr7:87700600-87701600	Weak transcription	Fetal Lung	lung
18	chr7:87701200-87701400	Enhancers	GM12878-XiMat	blood
19	chr7:87701200-87701800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:87701200-87702200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:87701200-87702200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:87701200-87702200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr7:87701200-87702200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:87701400-87701600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:87701400-87701600	Flanking Active TSS	GM12878-XiMat	blood
26	chr7:87701400-87702000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:87701400-87702000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:87701600-87702000	Active TSS	GM12878-XiMat	blood
29	chr7:87701600-87702200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:87701600-87704800	Enhancers	Fetal Lung	lung
31	chr7:87701600-87705000	Enhancers	Dnd41	blood
32	chr7:87701800-87702200	Enhancers	Adipose Nuclei	Adipose
33	chr7:87702000-87702200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:87702000-87702200	Flanking Active TSS	GM12878-XiMat	blood
35	chr7:87702000-87702400	Enhancers	Fetal Kidney	kidney
36	chr7:87702000-87705800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:87702200-87702600	Enhancers	GM12878-XiMat	blood
38	chr7:87702200-87703000	Enhancers	Brain Angular Gyrus	brain
39	chr7:87702200-87705800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:87702200-87706000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:87702400-87703000	Weak transcription	Fetal Kidney	kidney
42	chr7:87702600-87702800	Flanking Active TSS	GM12878-XiMat	blood
43	chr7:87702800-87703400	Enhancers	GM12878-XiMat	blood

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