Variant report

Variant	nsv894733
Chromosome Location	chr10:1314548-1343726
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:1343104..1343866-chr10:1410880..1411791,3	MCF-7	breast:
2	chr10:1320866..1322423-chr10:1331411..1333358,2	MCF-7	breast:
3	chr10:1188239..1188928-chr10:1339469..1340337,2	MCF-7	breast:
4	chr10:1314917..1317483-chr10:1331482..1333713,2	MCF-7	breast:
5	chr10:1326145..1328602-chr10:1331091..1332912,2	K562	blood:
6	chr10:1314917..1317483-chr10:1331482..1333713,2	MCF-7	breast:
7	chr10:1276796..1278904-chr10:1331020..1332895,2	MCF-7	breast:
8	chr10:1327021..1329202-chr10:1331499..1333339,2	MCF-7	breast:
9	chr10:1326145..1328602-chr10:1331091..1332912,2	K562	blood:
10	chr10:1261061..1262909-chr10:1333610..1336037,2	MCF-7	breast:
11	chr10:1155977..1157935-chr10:1333805..1335965,2	MCF-7	breast:
12	chr10:1309664..1312515-chr10:1314750..1317873,3	K562	blood:
13	chr10:1322383..1323906-chr10:1333565..1335622,2	MCF-7	breast:
14	chr10:1320866..1322423-chr10:1331411..1333358,2	MCF-7	breast:
15	chr10:1314496..1315373-chr11:128392405..128393112,2	NB4	blood:
16	chr10:1343525..1344053-chr10:2964654..2965501,2	MCF-7	breast:
17	chr10:1311192..1311778-chr10:1335511..1336108,2	MCF-7	breast:
18	chr10:1326856..1329723-chr10:1336897..1339640,2	K562	blood:
19	chr10:1335815..1339939-chr10:1340197..1343625,5	MCF-7	breast:
20	chr10:1310639..1312545-chr10:1312590..1315231,2	MCF-7	breast:
21	chr10:1343061..1343857-chr10:1429361..1429938,3	MCF-7	breast:
22	chr10:1326856..1329723-chr10:1336897..1339640,2	K562	blood:
23	chr10:1335815..1339939-chr10:1340197..1343625,5	MCF-7	breast:
24	chr10:1327021..1329202-chr10:1331499..1333339,2	MCF-7	breast:
25	chr10:1337321..1341033-chr10:1341220..1344425,4	K562	blood:
26	chr10:1308964..1311362-chr10:1335460..1337376,2	MCF-7	breast:
27	chr10:1337321..1341033-chr10:1341220..1344425,4	K562	blood:
28	chr10:1322383..1323906-chr10:1333565..1335622,2	MCF-7	breast:

No data

Extended variants
information (count: 1413 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1413 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10903412	chr10:1314548-1314549	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs180774024	chr10:1314554-1314555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374819815	chr10:1314569-1314570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564335015	chr10:1314627-1314628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78655134	chr10:1314715-1314716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10159844	chr10:1314716-1314717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186596921	chr10:1314718-1314719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77433357	chr10:1314739-1314740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549674425	chr10:1314740-1314741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192262312	chr10:1314799-1314800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535353220	chr10:1314814-1314815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2651485	chr10:1314831-1314832	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs183680224	chr10:1314854-1314855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377592818	chr10:1314869-1314870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149295555	chr10:1314927-1314928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115776422	chr10:1314935-1314936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188678135	chr10:1315023-1315024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552766889	chr10:1315026-1315027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4880495	chr10:1315045-1315046	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs147406899	chr10:1315058-1315059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113549216	chr10:1315099-1315100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577992884	chr10:1315100-1315101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182585332	chr10:1315133-1315134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369542482	chr10:1315178-1315179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57015581	chr10:1315207-1315208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540456070	chr10:1315222-1315223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560261441	chr10:1315229-1315230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549563883	chr10:1315284-1315285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186951438	chr10:1315298-1315299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528747218	chr10:1315304-1315305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114774533	chr10:1315305-1315306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191466240	chr10:1315359-1315360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139717547	chr10:1315362-1315363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550572946	chr10:1315367-1315368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76212263	chr10:1315374-1315375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145308289	chr10:1315375-1315376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370983389	chr10:1315380-1315381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78631654	chr10:1315388-1315389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72354682	chr10:1315389-1315390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs59011326	chr10:1315390-1315391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199904886	chr10:1315392-1315393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572750739	chr10:1315436-1315437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs56679522	chr10:1315441-1315442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2805560	chr10:1315446-1315447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs577944718	chr10:1315456-1315457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183591383	chr10:1315482-1315483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547758834	chr10:1315520-1315521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375639313	chr10:1315525-1315526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371604218	chr10:1315553-1315554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543421534	chr10:1315585-1315586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1310400-1315800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr10:1311200-1315800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:1313200-1315000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:1313600-1317600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr10:1313800-1314600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr10:1314000-1315000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr10:1314000-1315400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:1314000-1315600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:1314000-1316400	Weak transcription	Brain Substantia Nigra	brain
10	chr10:1314000-1316400	Weak transcription	Fetal Lung	lung
11	chr10:1314000-1334200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:1315600-1316200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:1315800-1316400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:1315800-1316400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:1315800-1317200	Enhancers	Brain Hippocampus Middle	brain
16	chr10:1316000-1316600	Enhancers	Esophagus	oesophagus
17	chr10:1316200-1316800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:1316200-1317000	Enhancers	Brain Angular Gyrus	brain
19	chr10:1316200-1317200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr10:1316200-1317400	Enhancers	Brain Cingulate Gyrus	brain
21	chr10:1316200-1317800	Enhancers	HSMM	muscle
22	chr10:1316400-1316800	Enhancers	Fetal Lung	lung
23	chr10:1316400-1317000	Enhancers	Brain Substantia Nigra	brain
24	chr10:1316400-1317000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr10:1316400-1317200	Enhancers	Brain Anterior Caudate	brain
26	chr10:1316400-1317600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:1316400-1317600	Enhancers	HSMMtube	muscle
28	chr10:1316600-1317000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:1316600-1317000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:1316800-1317600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:1317000-1317400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr10:1317200-1317400	Enhancers	Fetal Stomach	stomach
33	chr10:1317400-1328800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr10:1317600-1331800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:1318000-1320600	Weak transcription	Fetal Stomach	stomach
36	chr10:1320600-1321200	Enhancers	Fetal Stomach	stomach
37	chr10:1322000-1322200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:1322200-1322400	Enhancers	Gastric	stomach
39	chr10:1322400-1323600	Weak transcription	Gastric	stomach
40	chr10:1323600-1323800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr10:1323600-1324600	Enhancers	Gastric	stomach
42	chr10:1323800-1324000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr10:1326200-1326600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:1326200-1326600	Enhancers	NHEK	skin
45	chr10:1326400-1326600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
46	chr10:1326400-1326800	ZNF genes & repeats	Pancreas	Pancrea
47	chr10:1326600-1329600	Weak transcription	NHEK	skin
48	chr10:1326600-1330000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr10:1327000-1330000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr10:1327600-1327800	Enhancers	Brain Anterior Caudate	brain

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