Variant report

Variant	esv3336294
Chromosome Location	chr7:127203207-127205926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127194216..127195993-chr7:127204980..127207144,2	K562	blood:
2	chr7:127201088..127203577-chr7:127205248..127208135,2	K562	blood:
3	chr7:127201088..127203577-chr7:127205248..127208135,2	K562	blood:
4	chr7:127205094..127207792-chr7:127216829..127219729,3	MCF-7	breast:
5	chr7:127114890..127116879-chr7:127201699..127204076,2	K562	blood:
6	chr7:127204431..127206594-chr7:127219494..127222300,2	MCF-7	breast:
7	chr7:127200505..127203389-chr7:127219797..127221382,2	K562	blood:
8	chr7:127203098..127205037-chr7:127222496..127224357,2	MCF-7	breast:
9	chr7:127201455..127203783-chr7:127214712..127216389,2	MCF-7	breast:

No data

Extended variants
information (count: 101 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563800006	chr7:127203214-127203215	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs10265603	chr7:127203251-127203252	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs186897710	chr7:127203314-127203315	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs536761096	chr7:127203322-127203323	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs10276292	chr7:127203343-127203344	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573911179	chr7:127203433-127203434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151067449	chr7:127203437-127203438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191509482	chr7:127203448-127203449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182438155	chr7:127203534-127203535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189098096	chr7:127203540-127203541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193008407	chr7:127203546-127203547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6976685	chr7:127203576-127203577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542346656	chr7:127203603-127203604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561122715	chr7:127203629-127203630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531830131	chr7:127203650-127203651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77730279	chr7:127203694-127203695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376062618	chr7:127203695-127203696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528765246	chr7:127203747-127203748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115046279	chr7:127203757-127203758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532865393	chr7:127203785-127203786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542460346	chr7:127203807-127203808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547441956	chr7:127203813-127203814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566101244	chr7:127203818-127203819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6977152	chr7:127203830-127203831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs140981675	chr7:127203836-127203837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567459343	chr7:127203837-127203838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35049580	chr7:127203884-127203885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537998297	chr7:127203944-127203945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370347604	chr7:127203958-127203959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531517821	chr7:127204041-127204042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10954160	chr7:127204065-127204066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs149779776	chr7:127204078-127204079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538938347	chr7:127204089-127204090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553471841	chr7:127204098-127204099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537148819	chr7:127204107-127204108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146786311	chr7:127204120-127204121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542309909	chr7:127204221-127204222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140467048	chr7:127204222-127204223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548934184	chr7:127204235-127204236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145896836	chr7:127204237-127204238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565492729	chr7:127204260-127204261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189961855	chr7:127204274-127204275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567348487	chr7:127204277-127204278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548100090	chr7:127204289-127204290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559486472	chr7:127204299-127204300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530159253	chr7:127204309-127204310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191833511	chr7:127204333-127204334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4424203	chr7:127204379-127204380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73459102	chr7:127204402-127204403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs537564325	chr7:127204472-127204473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Glioblastoma multiforme	21510904	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127200600-127221400	Weak transcription	Pancreas	Pancrea
2	chr7:127203200-127203400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
3	chr7:127203200-127214000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:127203200-127214200	Weak transcription	Primary T cells from cord blood	blood
5	chr7:127203400-127220400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr7:127203600-127211800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:127203600-127218400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:127203600-127221400	Weak transcription	Left Ventricle	heart
9	chr7:127203800-127218400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:127204400-127217000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:127204400-127221000	Weak transcription	Aorta	Aorta
12	chr7:127204800-127219800	Weak transcription	Liver	Liver
13	chr7:127205200-127205400	Enhancers	Lung	lung
14	chr7:127205400-127217000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:127205400-127218200	Weak transcription	Lung	lung

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