Variant report

Variant	nsv971989
Chromosome Location	chr11:17158859-17159997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:17159820-17160045	K562	blood:	n/a	n/a
2	POLR2A	chr11:17159136-17159284	ProgFib	skin:	n/a	n/a
3	POLR2A	chr11:17159586-17159796	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17154024..17158946-chr11:17185264..17188139,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPS13-3	chr11:17159523-17159812	NONHSAT018216

Variant related genes	Relation type
ENSG00000240808	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146080224	chr11:17158970-17158971	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs33912263	chr11:17158979-17158980	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185340133	chr11:17158980-17158981	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140532695	chr11:17158998-17158999	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7945916	chr11:17159014-17159015	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs376107167	chr11:17159029-17159030	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571517389	chr11:17159081-17159082	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538599233	chr11:17159112-17159113	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552062552	chr11:17159180-17159181	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372126436	chr11:17159198-17159199	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537811725	chr11:17159199-17159200	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557078415	chr11:17159202-17159203	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575352372	chr11:17159203-17159204	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537120813	chr11:17159223-17159224	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556221086	chr11:17159235-17159236	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376351042	chr11:17159312-17159313	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574456521	chr11:17159364-17159365	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535234839	chr11:17159378-17159379	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555454518	chr11:17159379-17159380	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146638339	chr11:17159408-17159409	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541004036	chr11:17159421-17159422	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559533922	chr11:17159450-17159451	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143558713	chr11:17159476-17159477	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578187492	chr11:17159480-17159481	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545383798	chr11:17159495-17159496	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563857071	chr11:17159505-17159506	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553927511	chr11:17159520-17159521	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200617748	chr11:17159521-17159522	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182926883	chr11:17159576-17159577	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs560946396	chr11:17159584-17159585	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs539394713	chr11:17159753-17159754	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs552860951	chr11:17159770-17159771	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs528243115	chr11:17159815-17159816	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546565785	chr11:17159849-17159850	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs571168431	chr11:17159854-17159855	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs532391951	chr11:17159871-17159872	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs61085828	chr11:17159873-17159874	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs398015429	chr11:17159888-17159889	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs550624949	chr11:17159894-17159895	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs185718689	chr11:17159952-17159953	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs536021223	chr11:17159993-17159994	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17105400-17172800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:17107000-17167200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:17108200-17177400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:17108600-17172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:17111600-17182000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:17120400-17181600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:17120800-17166200	Weak transcription	Pancreas	Pancrea
8	chr11:17120800-17171800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:17120800-17172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:17121000-17178000	Weak transcription	Psoas Muscle	Psoas
11	chr11:17125400-17172200	Weak transcription	Fetal Brain Male	brain
12	chr11:17125800-17181400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:17126800-17186400	Weak transcription	Colonic Mucosa	Colon
14	chr11:17130200-17174600	Weak transcription	Spleen	Spleen
15	chr11:17130200-17203800	Weak transcription	Aorta	Aorta
16	chr11:17132000-17167800	Weak transcription	Right Ventricle	heart
17	chr11:17132200-17163200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:17139000-17171200	Weak transcription	Fetal Brain Female	brain
19	chr11:17140000-17183400	Weak transcription	Small Intestine	intestine
20	chr11:17143000-17163800	Weak transcription	Gastric	stomach
21	chr11:17144200-17192800	Weak transcription	NHDF-Ad	bronchial
22	chr11:17144600-17166600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:17150800-17165800	Weak transcription	HMEC	breast
24	chr11:17150800-17172000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:17150800-17186000	Weak transcription	NHLF	lung
26	chr11:17151000-17163000	Weak transcription	Hela-S3	cervix
27	chr11:17151000-17165400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:17151000-17173200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:17152400-17160400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:17153200-17160400	Strong transcription	Placenta	Placenta
31	chr11:17154600-17166600	Weak transcription	Ovary	ovary
32	chr11:17155000-17159600	Weak transcription	Osteobl	bone
33	chr11:17155000-17161600	Weak transcription	HSMM	muscle
34	chr11:17155000-17166600	Weak transcription	Fetal Kidney	kidney
35	chr11:17155200-17163400	Weak transcription	NHEK	skin
36	chr11:17155600-17163800	Weak transcription	Primary B cells from cord blood	blood
37	chr11:17156400-17160400	Weak transcription	Fetal Intestine Small	intestine
38	chr11:17156400-17162000	Weak transcription	Brain Substantia Nigra	brain
39	chr11:17156400-17186400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:17156400-17186600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:17156600-17159600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:17156600-17159600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr11:17156600-17159600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:17156600-17160000	Weak transcription	Primary T cells from cord blood	blood
45	chr11:17156600-17160000	Weak transcription	Fetal Muscle Leg	muscle
46	chr11:17156600-17161000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:17156600-17161600	Weak transcription	Left Ventricle	heart
48	chr11:17156600-17162000	Weak transcription	Fetal Lung	lung
49	chr11:17156600-17162200	Weak transcription	Fetal Thymus	thymus
50	chr11:17156600-17163200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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