Variant report

Variant	esv3337343
Chromosome Location	chr10:91546722-91549420
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571086226	chr10:91546741-91546742	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs533707681	chr10:91546765-91546766	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs553574879	chr10:91546829-91546830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531677766	chr10:91546830-91546831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542920097	chr10:91546831-91546832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556274491	chr10:91546880-91546881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562805866	chr10:91546901-91546902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148254297	chr10:91546914-91546915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545497210	chr10:91547005-91547006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550111666	chr10:91547063-91547064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7902875	chr10:91547153-91547154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541610320	chr10:91547154-91547155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183986967	chr10:91547167-91547168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188381154	chr10:91547194-91547195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550488880	chr10:91547206-91547207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181155452	chr10:91547233-91547234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542506915	chr10:91547250-91547251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531233328	chr10:91547254-91547255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184666910	chr10:91547259-91547260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570984153	chr10:91547281-91547282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200561436	chr10:91547288-91547289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75116516	chr10:91547289-91547290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553648520	chr10:91547296-91547297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567494909	chr10:91547394-91547395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199550902	chr10:91547400-91547401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113063157	chr10:91547657-91547658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536153481	chr10:91547731-91547732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55772495	chr10:91547784-91547785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs117265646	chr10:91547806-91547807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189079388	chr10:91547821-91547822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112479887	chr10:91547856-91547857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572524929	chr10:91547866-91547867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541148856	chr10:91547898-91547899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541546975	chr10:91547899-91547900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561311872	chr10:91547904-91547905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146862779	chr10:91547958-91547959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530362000	chr10:91547966-91547967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187044479	chr10:91547981-91547982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116169467	chr10:91547982-91547983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28766390	chr10:91548003-91548004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533237076	chr10:91548005-91548006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61870819	chr10:91548021-91548022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs201593237	chr10:91548185-91548186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527379386	chr10:91548194-91548195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57520119	chr10:91548211-91548212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569067087	chr10:91548225-91548226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547516186	chr10:91548232-91548233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190652182	chr10:91548242-91548243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181469983	chr10:91548276-91548277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186063449	chr10:91548282-91548283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Autism	22495311	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
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Sezary syndrome	18413736	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91506400-91549000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:91506600-91554200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:91523000-91549400	Weak transcription	Adipose Nuclei	Adipose
4	chr10:91523400-91549000	Weak transcription	K562	blood
5	chr10:91529600-91549000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr10:91533200-91554400	Weak transcription	NHEK	skin
7	chr10:91540600-91554200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr10:91540800-91549600	Weak transcription	Lung	lung
9	chr10:91540800-91554000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr10:91541000-91548800	Weak transcription	Dnd41	blood
11	chr10:91541000-91549000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:91541200-91549000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr10:91541200-91549200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr10:91541200-91552000	Weak transcription	HMEC	breast
15	chr10:91541200-91554800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr10:91541400-91547800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:91541400-91548800	Weak transcription	Primary T cells from cord blood	blood
18	chr10:91541400-91549000	Weak transcription	Fetal Thymus	thymus
19	chr10:91541400-91549200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr10:91541400-91550200	Weak transcription	Fetal Intestine Small	intestine
21	chr10:91541400-91560000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr10:91541600-91549000	Weak transcription	Thymus	Thymus
23	chr10:91541600-91552200	Weak transcription	Hela-S3	cervix
24	chr10:91541600-91554000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:91542600-91554000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr10:91544400-91549000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr10:91544600-91554000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr10:91546600-91546800	Active TSS	Small Intestine	intestine
29	chr10:91547600-91549000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:91548800-91549200	Enhancers	Primary T cells from cord blood	blood
31	chr10:91548800-91549200	Enhancers	Dnd41	blood
32	chr10:91549000-91549200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:91549000-91549200	Enhancers	Primary hematopoietic stem cells	blood
34	chr10:91549000-91549200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
35	chr10:91549000-91549200	Enhancers	Thymus	Thymus
36	chr10:91549000-91549400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr10:91549000-91549600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr10:91549000-91549600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr10:91549000-91549800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr10:91549000-91549800	Enhancers	Fetal Thymus	thymus
41	chr10:91549000-91549800	Enhancers	K562	blood
42	chr10:91549200-91549600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr10:91549400-91549600	Enhancers	Right Atrium	heart
44	chr10:91549400-91549800	Enhancers	Adipose Nuclei	Adipose

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