Variant report

Variant	nsv516413
Chromosome Location	chr11:18628418-18643758
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18626711..18629551-chr11:18638352..18640107,2	MCF-7	breast:
2	chr11:18530150..18532060-chr11:18629493..18631954,2	K562	blood:
3	chr11:18608348..18610776-chr11:18643416..18646152,2	MCF-7	breast:
4	chr11:18623737..18625685-chr11:18631766..18634861,3	K562	blood:
5	chr11:18616067..18617811-chr11:18630289..18631863,2	K562	blood:
6	chr11:18626711..18629551-chr11:18638352..18640107,2	MCF-7	breast:
7	chr11:18629872..18633193-chr11:18634242..18638507,6	K562	blood:
8	chr11:18620834..18624812-chr11:18626508..18629518,4	K562	blood:
9	chr11:18629851..18633818-chr11:18636242..18638829,5	K562	blood:
10	chr11:18639820..18641463-chr11:18645296..18647094,2	K562	blood:
11	chr11:18629347..18632000-chr11:18632583..18634106,2	K562	blood:
12	chr11:18635938..18638203-chr11:18650353..18652187,2	MCF-7	breast:
13	chr11:18629851..18633818-chr11:18636242..18638829,5	K562	blood:
14	chr11:18643136..18646726-chr11:18653855..18655704,3	K562	blood:
15	chr11:18609003..18612454-chr11:18630234..18632973,3	MCF-7	breast:
16	chr11:18629347..18632000-chr11:18632583..18634106,2	K562	blood:
17	chr11:18632328..18634710-chr11:18635963..18638562,2	MCF-7	breast:
18	chr11:18612916..18614635-chr11:18629860..18632297,2	K562	blood:
19	chr11:18602082..18603757-chr11:18635005..18637571,2	MCF-7	breast:
20	chr11:18625144..18627417-chr11:18628877..18631638,2	K562	blood:
21	chr11:18632328..18634710-chr11:18635963..18638562,2	MCF-7	breast:
22	chr11:18640607..18642141-chr11:18644910..18647355,2	K562	blood:
23	chr11:18629872..18633193-chr11:18634242..18638507,6	K562	blood:
24	chr11:18621999..18623639-chr11:18627567..18629893,2	K562	blood:
25	chr11:18608861..18610567-chr11:18636047..18638073,2	MCF-7	breast:
26	chr11:18635208..18638912-chr11:18654317..18656685,3	MCF-7	breast:

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SPTY2D1	hsa-miR-186-5p	chr11:18630723-18630746
2	SPTY2D1	hsa-miR-19b-3p	chr11:18628907-18628901
3	SPTY2D1	hsa-miR-124-3p	chr11:18629041-18629035
4	SPTY2D1	hsa-miR-124-3p	chr11:18629035-18629055

Variant related genes	Relation type
ENSG00000151116	chromatin interactions
ENSG00000256282	chromatin interactions
ENSG00000256588	chromatin interactions
ENSG00000179119	chromatin interactions
ENSG00000247595	chromatin interactions

Extended variants
information (count: 600 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:600 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17579600	chr11:18628418-18628419	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116998730	chr11:18628420-18628421	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs562608739	chr11:18628510-18628511	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181247125	chr11:18628530-18628531	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542476190	chr11:18628548-18628549	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs554189500	chr11:18628562-18628563	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs7951729	chr11:18628568-18628569	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs375149266	chr11:18628574-18628575	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs370086764	chr11:18628575-18628576	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs185488561	chr11:18628630-18628631	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs527579951	chr11:18628637-18628638	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs546032838	chr11:18628656-18628657	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs563950165	chr11:18628661-18628662	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs531300161	chr11:18628692-18628693	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs537775543	chr11:18628705-18628706	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs149369391	chr11:18628729-18628730	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs10832948	chr11:18628730-18628731	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs548488164	chr11:18628758-18628759	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs567013045	chr11:18628766-18628767	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs534227431	chr11:18628770-18628771	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs372769088	chr11:18628776-18628777	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs559176287	chr11:18628806-18628807	Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532075056	chr11:18628849-18628850	Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs570527024	chr11:18628917-18628918	Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs568402647	chr11:18628937-18628938	Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs139815241	chr11:18628952-18628953	Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs537830148	chr11:18628977-18628978	Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs554160721	chr11:18628997-18628998	Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs367675852	chr11:18629056-18629057	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs574586876	chr11:18629079-18629080	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs3168304	chr11:18629166-18629167	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs541661888	chr11:18629170-18629171	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs577115827	chr11:18629213-18629214	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs55846991	chr11:18629234-18629235	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs71050615	chr11:18629263-18629264	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs7934205	chr11:18629304-18629305	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs572180340	chr11:18629344-18629345	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs189846526	chr11:18629413-18629414	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs375206894	chr11:18629647-18629648	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs539892520	chr11:18629768-18629769	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564393666	chr11:18629875-18629876	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs3802964	chr11:18629980-18629981	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531363116	chr11:18629981-18629982	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566783006	chr11:18630038-18630039	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs200073800	chr11:18630053-18630054	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs561806816	chr11:18630173-18630174	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558424957	chr11:18630178-18630179	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144686449	chr11:18630204-18630205	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566973662	chr11:18630231-18630232	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs117049505	chr11:18630232-18630233	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:790 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18611000-18628600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:18611200-18628600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:18611200-18636400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:18611400-18635800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:18611600-18629200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:18611600-18629600	Weak transcription	Fetal Kidney	kidney
7	chr11:18611800-18636200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:18612000-18629600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:18612000-18630800	Weak transcription	Colonic Mucosa	Colon
10	chr11:18612000-18636200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:18612200-18629800	Weak transcription	HUVEC	blood vessel
12	chr11:18612400-18631000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:18612400-18638400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:18612800-18628800	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:18612800-18629600	Weak transcription	Stomach Mucosa	stomach
16	chr11:18612800-18630800	Weak transcription	HSMMtube	muscle
17	chr11:18613000-18628800	Weak transcription	K562	blood
18	chr11:18614600-18631000	Weak transcription	HepG2	liver
19	chr11:18617800-18628600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:18617800-18628800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:18617800-18629200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:18617800-18630000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:18617800-18630000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:18617800-18630200	Weak transcription	Brain Anterior Caudate	brain
25	chr11:18617800-18632200	Weak transcription	Brain Substantia Nigra	brain
26	chr11:18618000-18636400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:18618200-18628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:18618200-18628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:18618200-18628600	Weak transcription	Fetal Intestine Large	intestine
30	chr11:18618200-18628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:18618200-18628800	Weak transcription	HSMM	muscle
32	chr11:18618200-18631200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:18618400-18628800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:18618400-18629600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:18618400-18629600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr11:18618400-18629600	Weak transcription	NHLF	lung
37	chr11:18618400-18630600	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:18618400-18631000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:18618400-18635000	Weak transcription	NHEK	skin
40	chr11:18618600-18629400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:18618600-18631000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:18618600-18632000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:18618600-18632400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:18618600-18632600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:18618600-18635000	Weak transcription	Esophagus	oesophagus
46	chr11:18618600-18636200	Weak transcription	Pancreas	Pancrea
47	chr11:18618600-18636200	Weak transcription	Right Ventricle	heart
48	chr11:18618800-18628600	Weak transcription	Placenta	Placenta
49	chr11:18619400-18628600	Weak transcription	Fetal Lung	lung
50	chr11:18619800-18630000	Weak transcription	Brain Inferior Temporal Lobe	brain

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