Variant report

Variant	esv3403867
Chromosome Location	chr10:118705362-118706860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:118705537..118708825-chr10:118833697..118836259,3	MCF-7	breast:
2	chr10:118556165..118556747-chr10:118706627..118707161,2	K562	blood:
3	chr10:118705428..118708350-chr10:118709958..118711491,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60266220	chr10:118705416-118705417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560272706	chr10:118705504-118705505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114329256	chr10:118705505-118705506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370053873	chr10:118705507-118705508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549461312	chr10:118705511-118705512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183992952	chr10:118705515-118705516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551959421	chr10:118705528-118705529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536683068	chr10:118705586-118705587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550562234	chr10:118705601-118705602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570563114	chr10:118705609-118705610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199931293	chr10:118705694-118705695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3981229	chr10:118705705-118705706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188430570	chr10:118705879-118705880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553091607	chr10:118705884-118705885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572998035	chr10:118705909-118705910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535616290	chr10:118705928-118705929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11197852	chr10:118706044-118706045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12413240	chr10:118706091-118706092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11197853	chr10:118706115-118706116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28428965	chr10:118706139-118706140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555408920	chr10:118706142-118706143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10787732	chr10:118706163-118706164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181589294	chr10:118706168-118706169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11197854	chr10:118706187-118706188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368423272	chr10:118706192-118706193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551072865	chr10:118706201-118706202	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570829539	chr10:118706202-118706203	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540368236	chr10:118706268-118706269	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536127707	chr10:118706269-118706270	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7093852	chr10:118706281-118706282	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs7093979	chr10:118706372-118706373	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563056646	chr10:118706442-118706443	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs375442143	chr10:118706474-118706475	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs115970351	chr10:118706534-118706535	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550602885	chr10:118706535-118706536	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs570501668	chr10:118706633-118706634	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532951947	chr10:118706640-118706641	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79318337	chr10:118706752-118706753	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567939181	chr10:118706776-118706777	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566545781	chr10:118706814-118706815	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535303839	chr10:118706827-118706828	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555509462	chr10:118706855-118706856	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118651800-118706600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr10:118652000-118736200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr10:118653200-118706800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:118653400-118707600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr10:118663800-118707000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr10:118673000-118706400	Weak transcription	NH-A	brain
7	chr10:118673800-118706400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr10:118675000-118706600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:118678000-118706600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr10:118680000-118706800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr10:118687200-118706600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr10:118690200-118706400	Weak transcription	HSMM	muscle
13	chr10:118694800-118706600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr10:118695800-118706400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:118697200-118706600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:118697600-118705600	Strong transcription	A549	lung
17	chr10:118697600-118707000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr10:118697800-118705400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr10:118697800-118706600	Weak transcription	HSMMtube	muscle
20	chr10:118698000-118706400	Weak transcription	NHDF-Ad	bronchial
21	chr10:118698200-118706600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr10:118699000-118706200	Weak transcription	Lung	lung
23	chr10:118699000-118706800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:118699000-118707600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:118699200-118705400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr10:118699200-118707000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:118699200-118709800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:118699200-118710400	Weak transcription	Pancreas	Pancrea
29	chr10:118699200-118712400	Weak transcription	Esophagus	oesophagus
30	chr10:118699200-118724200	Weak transcription	Fetal Intestine Small	intestine
31	chr10:118699200-118740600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr10:118699200-118748200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:118700000-118710400	Weak transcription	Adipose Nuclei	Adipose
34	chr10:118700000-118736800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr10:118700200-118706600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr10:118700200-118706800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr10:118700200-118712400	Weak transcription	Placenta	Placenta
38	chr10:118701000-118733400	Weak transcription	Fetal Kidney	kidney
39	chr10:118701400-118705600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr10:118702400-118705400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:118702400-118727200	Weak transcription	Stomach Mucosa	stomach
42	chr10:118702600-118706600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr10:118703000-118706400	Weak transcription	Hela-S3	cervix
44	chr10:118703000-118706400	Weak transcription	HUVEC	blood vessel
45	chr10:118703200-118706600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:118703200-118721000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr10:118703400-118706400	Weak transcription	K562	blood
48	chr10:118703400-118720600	Weak transcription	Fetal Brain Male	brain
49	chr10:118703400-118737000	Weak transcription	Aorta	Aorta
50	chr10:118703600-118706400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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