Variant report

Variant	nsv515890
Chromosome Location	chr11:17816412-17821182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17820545..17822051-chr11:17823456..17825530,2	K562	blood:
2	chr11:17809972..17812196-chr11:17815890..17818080,2	K562	blood:
3	chr11:17818302..17822051-chr11:17823456..17827396,5	K562	blood:
4	chr11:17814065..17815842-chr11:17818470..17821411,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNC1-2	chr11:17816331-17818197	NONHSAT018253

Extended variants
information (count: 149 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4756919	chr11:17816412-17816413	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542816534	chr11:17816452-17816453	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs538483187	chr11:17816480-17816481	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs554669150	chr11:17816481-17816482	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs144739764	chr11:17816483-17816484	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs11603862	chr11:17816494-17816495	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs540265070	chr11:17816543-17816544	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs564538788	chr11:17816585-17816586	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs183990566	chr11:17816609-17816610	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs142330128	chr11:17816617-17816618	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs146456837	chr11:17816625-17816626	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs370785793	chr11:17816659-17816660	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs372278482	chr11:17816692-17816693	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs188329046	chr11:17816731-17816732	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs180856831	chr11:17816742-17816743	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs141811885	chr11:17816746-17816747	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs547017844	chr11:17816841-17816842	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs571671759	chr11:17816928-17816929	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs538994360	chr11:17816968-17816969	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs551308273	chr11:17816989-17816990	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs569540747	chr11:17817063-17817064	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs185112080	chr11:17817068-17817069	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs190289349	chr11:17817093-17817094	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs143818679	chr11:17817104-17817105	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs533655335	chr11:17817114-17817115	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs558191551	chr11:17817140-17817141	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs576449292	chr11:17817172-17817173	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs543777590	chr11:17817180-17817181	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs562470642	chr11:17817191-17817192	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs182108590	chr11:17817216-17817217	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs577889617	chr11:17817227-17817228	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs186808489	chr11:17817326-17817327	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs191714182	chr11:17817370-17817371	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs540404472	chr11:17817409-17817410	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs181286039	chr11:17817455-17817456	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs565340947	chr11:17817488-17817489	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs532570282	chr11:17817503-17817504	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs185302502	chr11:17817637-17817638	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs577408539	chr11:17817677-17817678	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs377365233	chr11:17817792-17817793	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs569566325	chr11:17817808-17817809	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs544808031	chr11:17817818-17817819	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs536544141	chr11:17817859-17817860	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs367684349	chr11:17817883-17817884	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs548819872	chr11:17817915-17817916	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs566963747	chr11:17817952-17817953	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs545311723	chr11:17817953-17817954	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs534371908	chr11:17818017-17818018	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs563185096	chr11:17818058-17818059	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs558252665	chr11:17818092-17818093	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17792000-17818400	Weak transcription	Right Atrium	heart
2	chr11:17796800-17828800	Weak transcription	Brain Germinal Matrix	brain
3	chr11:17798000-17819800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:17801600-17821800	Weak transcription	Spleen	Spleen
5	chr11:17802600-17819400	Weak transcription	Esophagus	oesophagus
6	chr11:17802800-17832400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:17803400-17819400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:17804000-17819400	Weak transcription	Liver	Liver
9	chr11:17805000-17819800	Weak transcription	Fetal Brain Male	brain
10	chr11:17805800-17829000	Weak transcription	Fetal Stomach	stomach
11	chr11:17806000-17837800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr11:17806600-17817200	Weak transcription	Gastric	stomach
13	chr11:17806600-17819400	Weak transcription	Right Ventricle	heart
14	chr11:17806800-17867400	Weak transcription	Primary B cells from cord blood	blood
15	chr11:17807200-17818600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:17808200-17861400	Weak transcription	Thymus	Thymus
17	chr11:17808800-17822200	Weak transcription	Adipose Nuclei	Adipose
18	chr11:17808800-17828600	Weak transcription	Fetal Brain Female	brain
19	chr11:17808800-17834600	Weak transcription	Aorta	Aorta
20	chr11:17809000-17833200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:17809200-17824800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:17809400-17819200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:17809600-17823600	Weak transcription	HSMMtube	muscle
24	chr11:17810400-17822200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:17810400-17829400	Weak transcription	Fetal Intestine Small	intestine
26	chr11:17811000-17817400	Weak transcription	Ovary	ovary
27	chr11:17811000-17830800	Weak transcription	Primary T cells from cord blood	blood
28	chr11:17812600-17819200	Weak transcription	HMEC	breast
29	chr11:17812600-17819400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:17813000-17819400	Weak transcription	Left Ventricle	heart
31	chr11:17814200-17823200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:17815000-17819800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:17815200-17819600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:17815600-17841400	Weak transcription	HepG2	liver
35	chr11:17815800-17816800	Weak transcription	Psoas Muscle	Psoas
36	chr11:17815800-17819400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:17816200-17817000	Enhancers	Lung	lung
38	chr11:17816800-17818600	Enhancers	Psoas Muscle	Psoas
39	chr11:17817200-17817400	Enhancers	Gastric	stomach
40	chr11:17818400-17821200	Enhancers	Right Atrium	heart
41	chr11:17818600-17818800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:17818600-17819400	Weak transcription	Psoas Muscle	Psoas
43	chr11:17818600-17843200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:17819200-17819800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:17819200-17819800	Enhancers	NHEK	skin
46	chr11:17819200-17821000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:17819200-17821200	Enhancers	HMEC	breast
48	chr11:17819200-17823800	Enhancers	Fetal Heart	heart
49	chr11:17819400-17820600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:17819400-17820800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links