Variant report

Variant	nsv516552
Chromosome Location	chr14:68056390-68057876
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:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68054786..68057485-chr14:68065333..68068448,3	MCF-7	breast:
2	chr14:68054530..68056540-chr14:68057938..68060602,2	MCF-7	breast:
3	chr14:68049424..68054139-chr14:68054942..68059059,5	K562	blood:
4	chr14:68055206..68057571-chr14:68140075..68142050,2	K562	blood:
5	chr14:68054347..68057531-chr14:68058790..68061561,4	K562	blood:
6	chr14:68048497..68050924-chr14:68055092..68056749,2	K562	blood:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PIGH	hsa-miR-7-5p	chr14:68056769-68056762
2	PIGH	hsa-miR-7-5p	chr14:68056763-68056784

Variant related genes	Relation type
ENSG00000100568	chromatin interactions
ENSG00000054690	chromatin interactions
ENSG00000100564	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8005363	chr14:68056390-68056391	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs368139099	chr14:68056442-68056443	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs45571637	chr14:68056453-68056454	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565658021	chr14:68056512-68056513	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs572705154	chr14:68056528-68056529	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs533009579	chr14:68056532-68056533	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs374689278	chr14:68056556-68056557	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs551318825	chr14:68056574-68056575	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs569814301	chr14:68056621-68056622	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs537393491	chr14:68056687-68056688	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs142424619	chr14:68056696-68056697	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs372207680	chr14:68056722-68056723	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs182566698	chr14:68056740-68056741	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs535020964	chr14:68056745-68056746	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs553304711	chr14:68056762-68056763	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs145424133	chr14:68056813-68056814	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs376764315	chr14:68056831-68056832	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs149186653	chr14:68056857-68056858	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs199909748	chr14:68056867-68056868	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs545469351	chr14:68056876-68056877	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs370763975	chr14:68056877-68056878	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs6573785	chr14:68056914-68056915	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575783755	chr14:68056923-68056924	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs376904069	chr14:68056940-68056941	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs61990078	chr14:68056964-68056965	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs61990079	chr14:68056967-68056968	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs397802266	chr14:68056987-68056988	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs75732006	chr14:68057001-68057002	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs542770448	chr14:68057015-68057016	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs8010574	chr14:68057031-68057032	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528729703	chr14:68057048-68057049	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs540638969	chr14:68057094-68057095	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs79030134	chr14:68057113-68057114	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs562661811	chr14:68057127-68057128	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs532910677	chr14:68057145-68057146	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs138033733	chr14:68057172-68057173	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs572579264	chr14:68057198-68057199	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs184704184	chr14:68057222-68057223	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs189151753	chr14:68057244-68057245	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs530736325	chr14:68057248-68057249	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs549154434	chr14:68057290-68057291	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs567589457	chr14:68057340-68057341	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs140424836	chr14:68057346-68057347	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs553127625	chr14:68057371-68057372	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs181580928	chr14:68057398-68057399	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs77582243	chr14:68057404-68057405	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs557437916	chr14:68057414-68057415	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs575287193	chr14:68057505-68057506	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs4899210	chr14:68057572-68057573	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs554707182	chr14:68057591-68057592	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21611746	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
2	chr14:68026400-68057400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:68034600-68057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:68038600-68057800	Strong transcription	Brain Cingulate Gyrus	brain
5	chr14:68039400-68057200	Strong transcription	Brain Germinal Matrix	brain
6	chr14:68039400-68057400	Strong transcription	Brain Anterior Caudate	brain
7	chr14:68039600-68061000	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr14:68040000-68057800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:68040800-68057800	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:68042200-68057000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:68042400-68062000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:68044600-68065800	Weak transcription	Fetal Kidney	kidney
13	chr14:68044800-68061200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:68045000-68057000	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:68045000-68057600	Strong transcription	Brain Substantia Nigra	brain
16	chr14:68045000-68061000	Strong transcription	Placenta	Placenta
17	chr14:68047400-68065800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:68047600-68057600	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr14:68048000-68059800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:68048000-68065600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:68048000-68066200	Weak transcription	Colonic Mucosa	Colon
22	chr14:68048400-68063000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr14:68048600-68056600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:68048800-68058800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:68049000-68056400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:68049000-68056600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:68049200-68064800	Weak transcription	Stomach Mucosa	stomach
28	chr14:68050200-68059200	Strong transcription	Brain Angular Gyrus	brain
29	chr14:68050200-68059600	Strong transcription	Fetal Brain Female	brain
30	chr14:68050200-68062600	Strong transcription	Fetal Stomach	stomach
31	chr14:68050600-68057600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:68050800-68056800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr14:68050800-68057800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:68051000-68065600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr14:68051000-68066000	Weak transcription	Fetal Heart	heart
36	chr14:68051400-68061000	Strong transcription	Primary T cells from cord blood	blood
37	chr14:68051600-68057600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:68051800-68061000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr14:68051800-68064600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:68052000-68057600	Strong transcription	Spleen	Spleen
41	chr14:68052000-68061000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr14:68052200-68057000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:68052200-68057600	Strong transcription	Gastric	stomach
44	chr14:68052200-68059600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:68052200-68061000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:68052200-68061200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:68052200-68061200	Strong transcription	Left Ventricle	heart
48	chr14:68052200-68062600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:68052400-68056800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:68052400-68057000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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