Variant report

Variant	nsv948199
Chromosome Location	chr10:119098873-119100743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:119093147..119095876-chr10:119096852..119099544,3	MCF-7	breast:
2	chr10:119093017..119095795-chr10:119096896..119099742,2	K562	blood:
3	chr10:119097071..119098975-chr10:119105436..119107758,2	K562	blood:
4	chr10:119094047..119095795-chr10:119096896..119099210,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2532789	chr10:119098875-119098876	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2532844	chr10:119098898-119098899	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs192902407	chr10:119098909-119098910	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368950879	chr10:119098936-119098937	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12414758	chr10:119098957-119098958	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs535243327	chr10:119099004-119099005	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555157445	chr10:119099022-119099023	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575654786	chr10:119099034-119099035	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537956988	chr10:119099113-119099114	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558278358	chr10:119099122-119099123	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575246239	chr10:119099142-119099143	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183481653	chr10:119099150-119099151	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201924896	chr10:119099224-119099225	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187801049	chr10:119099226-119099227	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138452628	chr10:119099230-119099231	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76320328	chr10:119099242-119099243	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563723911	chr10:119099256-119099257	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144025078	chr10:119099355-119099356	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192363871	chr10:119099370-119099371	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531976706	chr10:119099389-119099390	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112846110	chr10:119099396-119099397	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564238539	chr10:119099403-119099404	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs377563125	chr10:119099460-119099461	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs183700750	chr10:119099502-119099503	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs376625246	chr10:119099516-119099517	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs367758943	chr10:119099563-119099564	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs566394374	chr10:119099564-119099565	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs535370416	chr10:119099589-119099590	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs548722572	chr10:119099605-119099606	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12782183	chr10:119099703-119099704	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75676706	chr10:119099733-119099734	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374122843	chr10:119099771-119099772	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149550940	chr10:119099783-119099784	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538085431	chr10:119099784-119099785	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371516704	chr10:119099842-119099843	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs578071843	chr10:119099873-119099874	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148808646	chr10:119099885-119099886	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534159354	chr10:119099911-119099912	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576905824	chr10:119099915-119099916	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537171238	chr10:119099932-119099933	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574345906	chr10:119099958-119099959	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543338980	chr10:119100011-119100012	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs563234300	chr10:119100025-119100026	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs576541411	chr10:119100043-119100044	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs545611889	chr10:119100106-119100107	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs188067413	chr10:119100108-119100109	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs532877590	chr10:119100122-119100123	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs79750658	chr10:119100249-119100250	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192981530	chr10:119100284-119100285	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559169721	chr10:119100307-119100308	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apert syndrome	21572526	CNVD
Macular degeneration	22558131	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Muscular dystrophy	21149563	CNVD
Honadal dysgenesis	21048976	CNVD
Glioma	18556773	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:119041400-119101200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:119049800-119100600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr10:119049800-119101400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr10:119049800-119102400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:119050000-119101600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr10:119063800-119113200	Weak transcription	Fetal Thymus	thymus
7	chr10:119066800-119111600	Weak transcription	Colonic Mucosa	Colon
8	chr10:119069400-119104400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:119071600-119099200	Weak transcription	NH-A	brain
10	chr10:119071600-119106000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr10:119071800-119099200	Weak transcription	Hela-S3	cervix
12	chr10:119072000-119111200	Weak transcription	Aorta	Aorta
13	chr10:119076200-119099800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr10:119076400-119104800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr10:119078000-119101400	Weak transcription	NHDF-Ad	bronchial
16	chr10:119078200-119104400	Weak transcription	HSMM	muscle
17	chr10:119079000-119101800	Weak transcription	NHEK	skin
18	chr10:119079400-119099200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr10:119082200-119099800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr10:119082400-119118600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:119082600-119102000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:119083400-119104600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr10:119085600-119102000	Weak transcription	Pancreas	Pancrea
24	chr10:119086000-119102000	Weak transcription	Gastric	stomach
25	chr10:119086200-119099200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:119086400-119099000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:119086800-119099200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr10:119087000-119100600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr10:119087600-119100000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr10:119088000-119101400	Weak transcription	Stomach Mucosa	stomach
31	chr10:119088600-119100000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr10:119089800-119102000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:119092400-119099400	Weak transcription	Fetal Heart	heart
34	chr10:119093600-119101000	Strong transcription	Dnd41	blood
35	chr10:119094000-119099200	Weak transcription	Small Intestine	intestine
36	chr10:119094000-119101400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:119094000-119102000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:119094000-119113200	Weak transcription	Thymus	Thymus
39	chr10:119094200-119101600	Weak transcription	Adipose Nuclei	Adipose
40	chr10:119094200-119102400	Weak transcription	Brain Angular Gyrus	brain
41	chr10:119094200-119108600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr10:119094400-119105600	Weak transcription	Fetal Stomach	stomach
43	chr10:119094800-119101800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr10:119094800-119102400	Weak transcription	Fetal Lung	lung
45	chr10:119095000-119099000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr10:119095000-119102000	Weak transcription	Psoas Muscle	Psoas
47	chr10:119095000-119102400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr10:119095000-119113200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr10:119095200-119100000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr10:119095200-119102000	Weak transcription	Spleen	Spleen

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