Variant report

Variant	nsv948030
Chromosome Location	chr10:61548576-61550162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	miRNA target gene	miRNA name	Chromosome Location
1	CCDC6	hsa-miR-92a-3p	chr10:61548653-61548675
2	CCDC6	hsa-miR-128-3p	chr10:61549979-61549973
3	CCDC6	hsa-miR-181a-5p	chr10:61549726-61549720
4	CCDC6	hsa-miR-181a-5p	chr10:61549720-61549741

Extended variants
information (count: 45 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191105560	chr10:61548601-61548602	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376278188	chr10:61548641-61548642	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548992194	chr10:61548732-61548733	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs16914105	chr10:61548802-61548803	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs200133774	chr10:61548851-61548852	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71006293	chr10:61548852-61548853	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs398013686	chr10:61548855-61548856	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535456121	chr10:61548860-61548861	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556978744	chr10:61548942-61548943	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182345896	chr10:61548947-61548948	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112106741	chr10:61548953-61548954	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117459991	chr10:61548965-61548966	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558300709	chr10:61548968-61548969	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113746220	chr10:61548986-61548987	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34174498	chr10:61549005-61549006	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs573369767	chr10:61549133-61549134	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs189086498	chr10:61549177-61549178	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs202199098	chr10:61549205-61549206	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555762171	chr10:61549206-61549207	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574432305	chr10:61549214-61549215	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1127327	chr10:61549215-61549216	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562475549	chr10:61549347-61549348	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371011515	chr10:61549355-61549356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142638158	chr10:61549377-61549378	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193139345	chr10:61549390-61549391	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560228579	chr10:61549446-61549447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527473464	chr10:61549460-61549461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549210792	chr10:61549471-61549472	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561019029	chr10:61549475-61549476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531513493	chr10:61549514-61549515	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550516175	chr10:61549590-61549591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200432382	chr10:61549658-61549659	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568931014	chr10:61549725-61549726	Weak transcription Strong transcription Enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
34	rs539511608	chr10:61549786-61549787	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7917618	chr10:61549787-61549788	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs566980943	chr10:61549797-61549798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534127842	chr10:61549809-61549810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11540401	chr10:61549818-61549819	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574342201	chr10:61549935-61549936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538540707	chr10:61549948-61549949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374084090	chr10:61549991-61549992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3802695	chr10:61550057-61550058	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561293349	chr10:61550068-61550069	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545017664	chr10:61550113-61550114	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559988531	chr10:61550132-61550133	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Thoracic aortic aneurysm	21092924	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
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Urothelial carcinoma	21177765	CNVD
abnormal development	18461090	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	20643615	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61537600-61582800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:61540000-61548600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr10:61540000-61551600	Weak transcription	Fetal Lung	lung
4	chr10:61540200-61549600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:61540200-61550200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr10:61540200-61550400	Weak transcription	NH-A	brain
7	chr10:61540200-61551600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr10:61540200-61551600	Weak transcription	Brain Anterior Caudate	brain
9	chr10:61540200-61551600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr10:61540200-61551800	Weak transcription	Brain Germinal Matrix	brain
11	chr10:61540200-61551800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:61540200-61552200	Weak transcription	Fetal Stomach	stomach
13	chr10:61540200-61562800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:61540800-61548800	Weak transcription	Psoas Muscle	Psoas
15	chr10:61540800-61548800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr10:61540800-61551600	Weak transcription	HSMM	muscle
17	chr10:61541000-61550400	Weak transcription	Fetal Muscle Leg	muscle
18	chr10:61541400-61551400	Weak transcription	Hela-S3	cervix
19	chr10:61541400-61551400	Weak transcription	HSMMtube	muscle
20	chr10:61542200-61549600	Weak transcription	Brain Substantia Nigra	brain
21	chr10:61544200-61551400	Weak transcription	Brain Hippocampus Middle	brain
22	chr10:61544400-61549600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:61544400-61550400	Weak transcription	Primary T cells from cord blood	blood
24	chr10:61544600-61550400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr10:61544800-61550200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:61545000-61552400	Weak transcription	Colonic Mucosa	Colon
27	chr10:61545200-61563200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr10:61545600-61549600	Weak transcription	Primary B cells from cord blood	blood
29	chr10:61545600-61551800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr10:61545800-61563200	Weak transcription	Spleen	Spleen
31	chr10:61546000-61548800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:61546000-61548800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr10:61546200-61548800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:61546200-61549600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr10:61546200-61549600	Weak transcription	Fetal Intestine Large	intestine
36	chr10:61546200-61550000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr10:61546200-61551400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr10:61546200-61551400	Weak transcription	A549	lung
39	chr10:61546200-61552400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr10:61546200-61553800	Weak transcription	Stomach Mucosa	stomach
41	chr10:61546400-61550200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr10:61546600-61548800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:61546600-61548800	Weak transcription	Lung	lung
44	chr10:61546600-61552400	Weak transcription	Pancreas	Pancrea
45	chr10:61546800-61548600	Weak transcription	Dnd41	blood
46	chr10:61546800-61550000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr10:61546800-61550200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:61546800-61550400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr10:61546800-61550400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr10:61546800-61550400	Weak transcription	Fetal Thymus	thymus

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