Variant report

Variant	esv2158971
Chromosome Location	chr7:101252803-101253234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101244039..101255564-chr7:101454524..101463981,21	MCF-7	breast:
2	chr7:101252945..101257038-chr7:101259636..101262173,3	MCF-7	breast:
3	chr7:101245631..101247804-chr7:101249820..101253085,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257923	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192391509	chr7:101252806-101252807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs200731454	chr7:101252807-101252808	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs367875072	chr7:101252822-101252823	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs7806709	chr7:101252830-101252831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182115419	chr7:101252831-101252832	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs7789984	chr7:101252834-101252835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140169444	chr7:101252847-101252848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377497045	chr7:101252848-101252849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs550220463	chr7:101252849-101252850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201401267	chr7:101252852-101252853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6974636	chr7:101252856-101252857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs199515980	chr7:101252937-101252938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370968151	chr7:101252938-101252939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111203718	chr7:101252943-101252944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575854746	chr7:101252948-101252949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs151098776	chr7:101252963-101252964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372681898	chr7:101252975-101252976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs375318320	chr7:101252979-101252980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200009334	chr7:101252985-101252986	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529298927	chr7:101253001-101253002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201876102	chr7:101253023-101253024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs186585999	chr7:101253041-101253042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs568264299	chr7:101253052-101253053	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs191830611	chr7:101253055-101253056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs183955150	chr7:101253059-101253060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189121895	chr7:101253067-101253068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs74219819	chr7:101253071-101253072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140184908	chr7:101253073-101253074	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200482074	chr7:101253079-101253080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140918212	chr7:101253084-101253085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200649797	chr7:101253087-101253088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs66937055	chr7:101253123-101253124	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs201419064	chr7:101253131-101253132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs145182686	chr7:101253136-101253137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540148674	chr7:101253166-101253167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs551456845	chr7:101253177-101253178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs193018007	chr7:101253203-101253204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147550193	chr7:101253224-101253225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	19907438	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101252600-101254400	Weak transcription	Gastric	stomach
2	chr7:101252600-101256200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:101252600-101256200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:101252600-101256400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:101252600-101256800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:101252600-101257800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:101252800-101256200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:101252800-101256200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:101252800-101256200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:101252800-101256200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:101252800-101256400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:101252800-101256400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:101252800-101257200	Weak transcription	Placenta	Placenta
14	chr7:101252800-101257800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:101252800-101257800	Weak transcription	HMEC	breast
16	chr7:101252800-101258000	Weak transcription	Right Atrium	heart
17	chr7:101252800-101260800	Weak transcription	Esophagus	oesophagus

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