Variant report

Variant	esv3373846
Chromosome Location	chr10:1215152-1219450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:1213300..1215973-chr10:1221566..1223705,3	K562	blood:
2	chr10:1212034..1214121-chr10:1216912..1219207,3	K562	blood:
3	chr10:1205371..1207364-chr10:1215964..1217651,2	MCF-7	breast:
4	chr10:1217554..1219334-chr10:1273666..1276303,2	MCF-7	breast:
5	chr10:1211311..1213794-chr10:1213909..1215980,2	MCF-7	breast:
6	chr10:1217502..1219992-chr10:1225387..1227268,2	K562	blood:
7	chr10:1206399..1208043-chr10:1217335..1219969,2	K562	blood:
8	chr10:1155889..1157522-chr10:1215950..1218496,2	K562	blood:
9	chr10:1199972..1202496-chr10:1214363..1217039,2	K562	blood:
10	chr10:1208181..1211889-chr10:1212680..1217154,4	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADARB2-7	chr10:1213253-1216584	ucscGeneNc_uc001igj_1

No data

Variant related genes	Relation type
ENSG00000229205	chromatin interactions

Extended variants
information (count: 227 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546970661	chr10:1215161-1215162	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs2387305	chr10:1215166-1215167	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs539078783	chr10:1215179-1215180	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs539347526	chr10:1215182-1215183	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs549988223	chr10:1215191-1215192	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs559093254	chr10:1215193-1215194	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs371651509	chr10:1215229-1215230	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs554439523	chr10:1215233-1215234	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs555164519	chr10:1215280-1215281	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs574984338	chr10:1215328-1215329	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs12414468	chr10:1215350-1215351	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554083780	chr10:1215355-1215356	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs77733196	chr10:1215361-1215362	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs201006450	chr10:1215383-1215384	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs199635410	chr10:1215384-1215385	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs545422081	chr10:1215395-1215396	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs377200289	chr10:1215405-1215406	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs531451274	chr10:1215411-1215412	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs10794728	chr10:1215412-1215413	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561923349	chr10:1215440-1215441	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs191052699	chr10:1215443-1215444	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs547706958	chr10:1215445-1215446	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs570808578	chr10:1215465-1215466	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs181906493	chr10:1215481-1215482	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs116002691	chr10:1215482-1215483	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs186075088	chr10:1215520-1215521	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs571717225	chr10:1215528-1215529	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs538337888	chr10:1215545-1215546	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs368220925	chr10:1215570-1215571	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs554822705	chr10:1215648-1215649	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs568628765	chr10:1215661-1215662	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs534169056	chr10:1215670-1215671	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs190588697	chr10:1215672-1215673	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs372800496	chr10:1215697-1215698	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs375479484	chr10:1215722-1215723	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs577151186	chr10:1215739-1215740	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs139717293	chr10:1215740-1215741	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs61832997	chr10:1215759-1215760	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs547578816	chr10:1215760-1215761	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs61832998	chr10:1215772-1215773	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs576009169	chr10:1215792-1215793	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs541919070	chr10:1215800-1215801	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
43	rs561674310	chr10:1215801-1215802	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
44	rs527481350	chr10:1215836-1215837	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
45	rs541257868	chr10:1215867-1215868	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
46	rs11250310	chr10:1215868-1215869	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs75970729	chr10:1215880-1215881	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
48	rs552238747	chr10:1215893-1215894	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
49	rs11250311	chr10:1215900-1215901	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs531644556	chr10:1215925-1215926	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1144800-1232600	Weak transcription	Right Atrium	heart
2	chr10:1208600-1226400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:1209200-1215200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:1213000-1217200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:1215200-1215400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:1215400-1216000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:1215800-1216000	Enhancers	Esophagus	oesophagus
8	chr10:1215800-1216000	Bivalent Enhancer	Placenta	Placenta
9	chr10:1215800-1216200	Bivalent Enhancer	A549	lung
10	chr10:1216000-1216600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr10:1216000-1216800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr10:1216000-1217000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:1216400-1216600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:1217000-1217400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:1217000-1217400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr10:1217200-1217400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:1217200-1217400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:1217200-1217400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr10:1217400-1218800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:1217400-1218800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr10:1218200-1218400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:1218200-1219000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr10:1218800-1219200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr10:1218800-1220200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:1219000-1220200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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