Variant report

Variant	esv3321866
Chromosome Location	chr10:116253162-116257360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:116252911..116255379-chr10:116278820..116280848,2	MCF-7	breast:
2	chr10:116245877..116247978-chr10:116251219..116253992,2	MCF-7	breast:
3	chr10:116255855..116258207-chr10:116259480..116261802,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099204	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375429263	chr10:116253205-116253206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs578219443	chr10:116253254-116253255	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538813528	chr10:116253290-116253291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534757930	chr10:116253331-116253332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs191634879	chr10:116253335-116253336	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369610800	chr10:116253351-116253352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369401340	chr10:116253364-116253365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552694395	chr10:116253381-116253382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574976573	chr10:116253399-116253400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542683187	chr10:116253445-116253446	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574331149	chr10:116253556-116253557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7910037	chr10:116253602-116253603	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs181674791	chr10:116253627-116253628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs149511346	chr10:116253641-116253642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs186327493	chr10:116253654-116253655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535117779	chr10:116253676-116253677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs532354684	chr10:116253704-116253705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs116683358	chr10:116253774-116253775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs61870101	chr10:116253800-116253801	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs144001437	chr10:116253838-116253839	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs148749142	chr10:116253873-116253874	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs191174035	chr10:116253892-116253893	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs80045687	chr10:116253897-116253898	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182190776	chr10:116253940-116253941	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188063965	chr10:116254000-116254001	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142322125	chr10:116254017-116254018	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191152687	chr10:116254049-116254050	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116787364	chr10:116254097-116254098	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371970889	chr10:116254263-116254264	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535989604	chr10:116254266-116254267	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554198204	chr10:116254268-116254269	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575642008	chr10:116254275-116254276	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111631046	chr10:116254287-116254288	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558450247	chr10:116254290-116254291	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117801231	chr10:116254303-116254304	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573252074	chr10:116254311-116254312	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540674893	chr10:116254314-116254315	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373438379	chr10:116254331-116254332	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559323674	chr10:116254357-116254358	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562049972	chr10:116254468-116254469	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529893727	chr10:116254523-116254524	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543145216	chr10:116254553-116254554	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561321913	chr10:116254572-116254573	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546170019	chr10:116254611-116254612	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7073053	chr10:116254624-116254625	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs183116374	chr10:116254626-116254627	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571594266	chr10:116254648-116254649	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532726353	chr10:116254649-116254650	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529253367	chr10:116254682-116254683	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548067429	chr10:116254771-116254772	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116214600-116263600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:116222200-116264400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr10:116225000-116267200	Weak transcription	Aorta	Aorta
4	chr10:116225600-116278800	Weak transcription	HSMM	muscle
5	chr10:116243000-116286200	Weak transcription	Spleen	Spleen
6	chr10:116245000-116258800	Weak transcription	Colonic Mucosa	Colon
7	chr10:116247000-116255200	Weak transcription	Fetal Kidney	kidney
8	chr10:116248000-116258200	Weak transcription	Fetal Intestine Large	intestine
9	chr10:116249600-116264800	Weak transcription	Pancreas	Pancrea
10	chr10:116249800-116259400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:116250000-116256600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:116250000-116256600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr10:116250000-116256600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:116250000-116258400	Weak transcription	Fetal Intestine Small	intestine
15	chr10:116250000-116259400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:116250200-116256600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr10:116250200-116256600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr10:116250200-116264600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr10:116250200-116265200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:116251000-116253200	Enhancers	Fetal Lung	lung
21	chr10:116251000-116253200	Enhancers	Fetal Muscle Leg	muscle
22	chr10:116251000-116253200	Enhancers	Stomach Mucosa	stomach
23	chr10:116251000-116259000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr10:116251400-116253200	Enhancers	Thymus	Thymus
25	chr10:116251400-116253600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr10:116251400-116254600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr10:116251400-116258400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr10:116251400-116259200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr10:116251600-116253200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:116251600-116253200	Enhancers	Primary B cells from peripheral blood	blood
31	chr10:116251600-116253200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:116251600-116253200	Enhancers	GM12878-XiMat	blood
33	chr10:116251600-116254200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr10:116251600-116254200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:116251600-116254600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr10:116251600-116255600	Weak transcription	HSMMtube	muscle
37	chr10:116251800-116253200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr10:116251800-116253200	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr10:116251800-116253200	Enhancers	Primary T cells fromperipheralblood	blood
40	chr10:116251800-116253200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr10:116251800-116253200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr10:116251800-116253200	Enhancers	Left Ventricle	heart
43	chr10:116251800-116253200	Enhancers	HUVEC	blood vessel
44	chr10:116251800-116253800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr10:116251800-116253800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr10:116251800-116253800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr10:116251800-116254600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr10:116251800-116254600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr10:116251800-116254800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr10:116252000-116253200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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