Variant report

Variant	esv2762711
Chromosome Location	chr7:150318801-150323647
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	chr7:150318567..150320599-chr7:150322127..150323984,2	K562	blood:
2	chr7:150318567..150320599-chr7:150322127..150323984,2	K562	blood:

Extended variants
information (count: 165 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10253121	chr7:150318801-150318802	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35743711	chr7:150318811-150318812	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs111866153	chr7:150318836-150318837	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs555940494	chr7:150318950-150318951	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs564384138	chr7:150318987-150318988	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs372131714	chr7:150318988-150318989	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs180738692	chr7:150319040-150319041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114890045	chr7:150319091-150319092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561075863	chr7:150319181-150319182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574824648	chr7:150319259-150319260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6952669	chr7:150319290-150319291	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs13238412	chr7:150319324-150319325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs532843366	chr7:150319414-150319415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552864479	chr7:150319427-150319428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563166961	chr7:150319445-150319446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531991687	chr7:150319471-150319472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552627025	chr7:150319534-150319535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76110141	chr7:150319602-150319603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78003643	chr7:150319614-150319615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78572228	chr7:150319678-150319679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533615233	chr7:150319712-150319713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56325059	chr7:150319717-150319718	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs570306472	chr7:150319723-150319724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539356533	chr7:150319777-150319778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553168272	chr7:150319793-150319794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556078624	chr7:150319802-150319803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73727361	chr7:150319828-150319829	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186096723	chr7:150319884-150319885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191168092	chr7:150319903-150319904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182675294	chr7:150319931-150319932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114815834	chr7:150319941-150319942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533231844	chr7:150319959-150319960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140341359	chr7:150320017-150320018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145515118	chr7:150320074-150320075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77040067	chr7:150320090-150320091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557425595	chr7:150320100-150320101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563201227	chr7:150320102-150320103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10231041	chr7:150320120-150320121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs546163616	chr7:150320188-150320189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190602323	chr7:150320190-150320191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112526167	chr7:150320210-150320211	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs370933078	chr7:150320236-150320237	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs149449845	chr7:150320242-150320243	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs114269801	chr7:150320277-150320278	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs558607490	chr7:150320293-150320294	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs115161453	chr7:150320301-150320302	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs182952265	chr7:150320316-150320317	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs532810324	chr7:150320397-150320398	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs78779408	chr7:150320411-150320412	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs73727362	chr7:150320456-150320457	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150312400-150321800	Weak transcription	Dnd41	blood
2	chr7:150312800-150323000	Weak transcription	Fetal Thymus	thymus
3	chr7:150315000-150322200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:150316800-150320400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:150316800-150320400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr7:150317000-150319400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr7:150317000-150319800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:150317000-150321000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr7:150317600-150319200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr7:150317600-150320400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr7:150318000-150319200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:150318000-150320600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr7:150318000-150322400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr7:150318000-150323000	Weak transcription	HUVEC	blood vessel
15	chr7:150318400-150323200	Weak transcription	Spleen	Spleen
16	chr7:150318600-150319000	Flanking Active TSS	GM12878-XiMat	blood
17	chr7:150318800-150320200	Weak transcription	Primary T cells from cord blood	blood
18	chr7:150318800-150320200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:150318800-150320800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr7:150318800-150320800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:150318800-150321600	Weak transcription	Left Ventricle	heart
22	chr7:150318800-150322200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr7:150318800-150323000	Weak transcription	Adipose Nuclei	Adipose
24	chr7:150318800-150323200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:150319000-150321000	Enhancers	GM12878-XiMat	blood
26	chr7:150319000-150323000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:150319200-150321800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:150319200-150323800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr7:150319400-150321800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr7:150319400-150321800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:150319800-150320600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:150320000-150323200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:150320200-150320400	ZNF genes & repeats	Gastric	stomach
34	chr7:150320200-150320600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:150320200-150321000	Enhancers	Primary T cells from cord blood	blood
36	chr7:150320400-150321000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:150320400-150322600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
38	chr7:150320400-150322800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr7:150320400-150323200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr7:150320400-150324400	Weak transcription	Gastric	stomach
41	chr7:150320600-150321400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr7:150320600-150322200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:150320600-150323400	Weak transcription	Thymus	Thymus
44	chr7:150320600-150324400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:150320800-150321200	Enhancers	Primary T cells fromperipheralblood	blood
46	chr7:150320800-150323600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:150321000-150321200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:150321000-150321400	Weak transcription	Primary T cells from cord blood	blood
49	chr7:150321000-150321400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:150321000-150323600	Genic enhancers	GM12878-XiMat	blood

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