Variant report

Variant	esv3398489
Chromosome Location	chr7:129156058-129157171
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	chr7:129004405..129006916-chr7:129153752..129156146,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56999169	chr7:129156075-129156076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1248448	chr7:129156076-129156077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71527910	chr7:129156079-129156080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559380734	chr7:129156100-129156101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552589390	chr7:129156102-129156103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574090203	chr7:129156148-129156149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113074710	chr7:129156170-129156171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535199966	chr7:129156172-129156173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373356076	chr7:129156199-129156200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376502770	chr7:129156280-129156281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575362493	chr7:129156325-129156326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545950147	chr7:129156329-129156330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564222825	chr7:129156367-129156368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573135802	chr7:129156464-129156465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540533518	chr7:129156481-129156482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142865568	chr7:129156502-129156503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34325468	chr7:129156546-129156547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77786896	chr7:129156568-129156569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9770842	chr7:129156581-129156582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548716967	chr7:129156596-129156597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs193146464	chr7:129156602-129156603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185334337	chr7:129156610-129156611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552699384	chr7:129156611-129156612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570947708	chr7:129156613-129156614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187728554	chr7:129156618-129156619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546866177	chr7:129156645-129156646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567751578	chr7:129156650-129156651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535047405	chr7:129156651-129156652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373852937	chr7:129156664-129156665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556657832	chr7:129156674-129156675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575250252	chr7:129156675-129156676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570770267	chr7:129156698-129156699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557981373	chr7:129156699-129156700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376177224	chr7:129156706-129156707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62489129	chr7:129156710-129156711	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs561932615	chr7:129156740-129156741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557870636	chr7:129156741-129156742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373926092	chr7:129156744-129156745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574908399	chr7:129156751-129156752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192534586	chr7:129156785-129156786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551900208	chr7:129156786-129156787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183689144	chr7:129156792-129156793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531074762	chr7:129156793-129156794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552386030	chr7:129156794-129156795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564729164	chr7:129156812-129156813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62489130	chr7:129156827-129156828	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188357554	chr7:129156829-129156830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368235952	chr7:129156830-129156831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568385191	chr7:129156859-129156860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181025261	chr7:129156877-129156878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129150800-129175400	Weak transcription	Right Atrium	heart
2	chr7:129152000-129162600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:129153800-129157800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:129154600-129159800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:129154800-129158800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:129154800-129159200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:129154800-129159200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:129154800-129159400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:129154800-129162000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:129155000-129157600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:129155000-129159600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:129155000-129159600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:129155200-129159600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:129156400-129157200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:129156800-129157000	Enhancers	Primary T cells fromperipheralblood	blood

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