Variant report

Variant	nsv832076
Chromosome Location	chr11:16650873-16691808
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:16691188..16692933-chr11:16759171..16761829,2	MCF-7	breast:
2	chr11:16653742..16654368-chr11:16806746..16807650,2	MCF-7	breast:
3	chr11:16691570..16693601-chr11:16731632..16734150,2	MCF-7	breast:
4	chr11:16653886..16654517-chr11:16807168..16807851,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C11orf58-2	chr11:16676687-16677089	NONHSAT018181
2	lnc-C11orf58-2	chr11:16667585-16667856	NONHSAT018181

No data

Variant related genes	Relation type
ENSG00000110696	chromatin interactions
ENSG00000110693	chromatin interactions

Extended variants
information (count: 877 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:877 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371390214	chr11:16650906-16650907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191263734	chr11:16650909-16650910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185798589	chr11:16650945-16650946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554938923	chr11:16650991-16650992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573144836	chr11:16651001-16651002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375255152	chr11:16651018-16651019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114274319	chr11:16651111-16651112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553049937	chr11:16651157-16651158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578050321	chr11:16651235-16651236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190322424	chr11:16651237-16651238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563793743	chr11:16651377-16651378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575466188	chr11:16651416-16651417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542792725	chr11:16651443-16651444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562065185	chr11:16651516-16651517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561268707	chr11:16651549-16651550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9651634	chr11:16651566-16651567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113416252	chr11:16651578-16651579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369785272	chr11:16651582-16651583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182044546	chr11:16651662-16651663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550445272	chr11:16651689-16651690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568919421	chr11:16651717-16651718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368573752	chr11:16651767-16651768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186637897	chr11:16651798-16651799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548368686	chr11:16651833-16651834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562104133	chr11:16651834-16651835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566779214	chr11:16651838-16651839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534029744	chr11:16651844-16651845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79815964	chr11:16651938-16651939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571591813	chr11:16651961-16651962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539007653	chr11:16652001-16652002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77698771	chr11:16652006-16652007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541856987	chr11:16652019-16652020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79978788	chr11:16652061-16652062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188695225	chr11:16652174-16652175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7120884	chr11:16652190-16652191	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs554703230	chr11:16652206-16652207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547771666	chr11:16652228-16652229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111562254	chr11:16652276-16652277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374861175	chr11:16652283-16652284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560023424	chr11:16652346-16652347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142724013	chr11:16652380-16652381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565565649	chr11:16652456-16652457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532047876	chr11:16652475-16652476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550958349	chr11:16652498-16652499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529273528	chr11:16652520-16652521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544175186	chr11:16652538-16652539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569355130	chr11:16652540-16652541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529772473	chr11:16652560-16652561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527264012	chr11:16652610-16652611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72861256	chr11:16652611-16652612	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
T-cell prolymphocytic leukemia	19278963	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16650200-16654400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:16651000-16654000	Weak transcription	K562	blood
3	chr11:16652400-16652600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:16652600-16654000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:16653800-16654000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:16653800-16654200	Active TSS	A549	lung
7	chr11:16654000-16654200	Enhancers	Right Atrium	heart
8	chr11:16654000-16654200	Enhancers	HepG2	liver
9	chr11:16654000-16654400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:16654000-16654400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:16654000-16654400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:16654000-16654400	Flanking Active TSS	Hela-S3	cervix
13	chr11:16654000-16654400	Active TSS	K562	blood
14	chr11:16654000-16654600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr11:16654000-16654600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:16654000-16654600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:16654000-16654600	Enhancers	Esophagus	oesophagus
18	chr11:16654000-16654600	Enhancers	Placenta	Placenta
19	chr11:16654000-16654600	Enhancers	NHEK	skin
20	chr11:16654000-16654800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:16654000-16654800	Enhancers	HMEC	breast
22	chr11:16654200-16654600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:16654200-16654600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:16654200-16654600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:16654200-16655000	Weak transcription	Right Atrium	heart
26	chr11:16654400-16654600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:16654400-16654800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:16654400-16657200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:16654600-16657200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:16656800-16657600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:16657200-16657600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:16657200-16657800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:16669000-16669400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:16669200-16670000	Weak transcription	Pancreas	Pancrea
35	chr11:16669400-16669800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:16669800-16680800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:16670000-16670200	Enhancers	Pancreas	Pancrea
38	chr11:16670200-16670400	Weak transcription	Pancreas	Pancrea
39	chr11:16673800-16674200	Active TSS	Fetal Heart	heart
40	chr11:16683800-16686200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:16686200-16686400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:16686400-16687000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:16687200-16687400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:16687400-16690800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:16690800-16691400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr11:16690800-16691400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:16690800-16691600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:16690800-16691600	Enhancers	HSMM	muscle
49	chr11:16690800-16691800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:16690800-16692000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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