Variant report

Variant	esv3424329
Chromosome Location	chr10:119026362-119030860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:119028093..119030866-chr10:119036521..119038901,2	K562	blood:
2	chr10:119016058..119018983-chr10:119028187..119030646,3	K562	blood:
3	chr10:119028987..119030668-chr10:119032678..119034340,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDZD8-7	chr10:119030064-119030493	expReg_chr10_8332_-
2	lnc-PDZD8-8	chr10:119026627-119027472	NONHSAT016514

Extended variants
information (count: 184 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138829786	chr10:119026366-119026367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs363266	chr10:119026401-119026402	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs189648737	chr10:119026403-119026404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370743344	chr10:119026434-119026435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368183930	chr10:119026445-119026446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149505413	chr10:119026479-119026480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs363267	chr10:119026492-119026493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375143080	chr10:119026511-119026512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546604480	chr10:119026521-119026522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367902584	chr10:119026545-119026546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372101730	chr10:119026559-119026560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs363227	chr10:119026566-119026567	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs180874169	chr10:119026599-119026600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555504297	chr10:119026600-119026601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575369718	chr10:119026633-119026634	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs555840098	chr10:119026698-119026699	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs363268	chr10:119026758-119026759	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs3026063	chr10:119026803-119026804	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs111618129	chr10:119026825-119026826	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs190173211	chr10:119026843-119026844	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs540139250	chr10:119026846-119026847	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs554176418	chr10:119026852-119026853	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs182442532	chr10:119026877-119026878	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs542567648	chr10:119026922-119026923	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs562655693	chr10:119026996-119026997	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs185965469	chr10:119027027-119027028	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs544863459	chr10:119027087-119027088	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs191506496	chr10:119027090-119027091	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs560259539	chr10:119027093-119027094	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs363228	chr10:119027123-119027124	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs542898382	chr10:119027132-119027133	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs3026064	chr10:119027158-119027159	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs363269	chr10:119027159-119027160	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs3026065	chr10:119027169-119027170	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs200992027	chr10:119027232-119027233	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs570100335	chr10:119027240-119027241	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs363270	chr10:119027258-119027259	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs369473981	chr10:119027259-119027260	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs373052219	chr10:119027273-119027274	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs368714331	chr10:119027292-119027293	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs373292835	chr10:119027300-119027301	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs184202481	chr10:119027367-119027368	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs548964326	chr10:119027391-119027392	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs363271	chr10:119027411-119027412	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs188754632	chr10:119027432-119027433	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs375024144	chr10:119027489-119027490	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558015152	chr10:119027506-119027507	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571342569	chr10:119027558-119027559	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569352377	chr10:119027568-119027569	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534141143	chr10:119027570-119027571	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:119017400-119034000	Weak transcription	Gastric	stomach
2	chr10:119019800-119031200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr10:119020000-119034000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:119020000-119042600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr10:119020600-119028000	Weak transcription	Thymus	Thymus
6	chr10:119020600-119035000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr10:119020600-119043200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:119020600-119045400	Weak transcription	Fetal Heart	heart
9	chr10:119021400-119043200	Weak transcription	Fetal Intestine Small	intestine
10	chr10:119022600-119042000	Weak transcription	Fetal Intestine Large	intestine
11	chr10:119023000-119031800	Weak transcription	Ovary	ovary
12	chr10:119023800-119043200	Weak transcription	Spleen	Spleen
13	chr10:119024400-119026400	Weak transcription	Primary T cells from cord blood	blood
14	chr10:119025200-119026800	Weak transcription	HepG2	liver
15	chr10:119026000-119027000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:119026000-119032600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:119026200-119026400	Weak transcription	Pancreas	Pancrea
18	chr10:119026200-119027000	Weak transcription	Fetal Thymus	thymus
19	chr10:119026200-119031400	Weak transcription	K562	blood
20	chr10:119026400-119029200	Strong transcription	Primary T cells from cord blood	blood
21	chr10:119026800-119027800	Enhancers	HepG2	liver
22	chr10:119027000-119028600	Enhancers	Fetal Thymus	thymus
23	chr10:119027000-119030000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:119027000-119038400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:119027800-119042600	Weak transcription	HepG2	liver
26	chr10:119028000-119028200	Enhancers	Lung	lung
27	chr10:119028000-119028400	Genic enhancers	Thymus	Thymus
28	chr10:119028400-119028800	ZNF genes & repeats	Fetal Kidney	kidney
29	chr10:119028400-119029600	Enhancers	Thymus	Thymus
30	chr10:119028600-119029000	Weak transcription	Fetal Thymus	thymus
31	chr10:119028800-119042600	Weak transcription	Fetal Kidney	kidney
32	chr10:119029000-119029200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:119029000-119029200	Enhancers	Fetal Thymus	thymus
34	chr10:119029200-119031800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr10:119029200-119042800	Weak transcription	Primary T cells from cord blood	blood
36	chr10:119029200-119043000	Weak transcription	Fetal Thymus	thymus
37	chr10:119029200-119043200	Weak transcription	Fetal Stomach	stomach
38	chr10:119029600-119030600	Weak transcription	Thymus	Thymus
39	chr10:119030000-119040800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr10:119030600-119031200	Enhancers	Thymus	Thymus
41	chr10:119030600-119031400	Enhancers	NH-A	brain
42	chr10:119030600-119031600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr10:119030600-119031600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr10:119030600-119031600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr10:119030600-119031600	Enhancers	A549	lung
46	chr10:119030600-119031800	Enhancers	NHEK	skin
47	chr10:119030600-119032000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr10:119030600-119032000	Enhancers	HMEC	breast
49	chr10:119030600-119032600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr10:119030800-119031400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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