Variant report

Variant	nsv518588
Chromosome Location	chr11:86036955-86039086
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	CEBPB	chr11:86038330-86038434	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86010873..86013514-chr11:86034864..86037459,2	K562	blood:

Variant related genes	Relation type
RN7SL225P	TF binding region
ENSG00000149196	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7114910	chr11:86036955-86036956	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187331288	chr11:86036958-86036959	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2513202	chr11:86036982-86036983	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs572294611	chr11:86036993-86036994	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566670879	chr11:86037009-86037010	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192225454	chr11:86037022-86037023	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535646557	chr11:86037038-86037039	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555577943	chr11:86037077-86037078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542782486	chr11:86037078-86037079	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538504536	chr11:86037094-86037095	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558181468	chr11:86037129-86037130	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182939299	chr11:86037131-86037132	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545815790	chr11:86037218-86037219	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571559769	chr11:86037264-86037265	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149252679	chr11:86037293-86037294	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs71465628	chr11:86037304-86037305	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113443946	chr11:86037318-86037319	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2847469	chr11:86037353-86037354	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530635518	chr11:86037359-86037360	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565277415	chr11:86037369-86037370	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs187278660	chr11:86037519-86037520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564226846	chr11:86037592-86037593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533153170	chr11:86037608-86037609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs137961038	chr11:86037663-86037664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12295985	chr11:86037696-86037697	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs535583757	chr11:86037700-86037701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199796363	chr11:86037731-86037732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369484740	chr11:86037733-86037734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371044029	chr11:86037734-86037735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549089420	chr11:86037748-86037749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190123664	chr11:86037774-86037775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115337493	chr11:86037777-86037778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34308544	chr11:86037789-86037790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370667200	chr11:86037821-86037822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558380831	chr11:86037846-86037847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7925989	chr11:86037849-86037850	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539430954	chr11:86037875-86037876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530239212	chr11:86037886-86037887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182673761	chr11:86037891-86037892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188247364	chr11:86037911-86037912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541917471	chr11:86037919-86037920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569878699	chr11:86037953-86037954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142144271	chr11:86037981-86037982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61904323	chr11:86038016-86038017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368532828	chr11:86038026-86038027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544125985	chr11:86038036-86038037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570409892	chr11:86038045-86038046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534286618	chr11:86038068-86038069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12290614	chr11:86038075-86038076	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs540213053	chr11:86038079-86038080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86014200-86052000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:86014200-86055400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:86014200-86057400	Weak transcription	Aorta	Aorta
4	chr11:86014400-86066600	Weak transcription	HSMMtube	muscle
5	chr11:86014600-86045600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:86014600-86045800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:86014600-86045800	Weak transcription	Right Ventricle	heart
8	chr11:86014600-86048400	Weak transcription	Brain Germinal Matrix	brain
9	chr11:86014600-86048800	Weak transcription	Thymus	Thymus
10	chr11:86014600-86049000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:86014600-86049800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:86014600-86066400	Weak transcription	Fetal Kidney	kidney
13	chr11:86014800-86040600	Weak transcription	Brain Angular Gyrus	brain
14	chr11:86014800-86045800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:86014800-86049000	Weak transcription	Hela-S3	cervix
16	chr11:86014800-86049200	Weak transcription	HUVEC	blood vessel
17	chr11:86014800-86058600	Weak transcription	NHLF	lung
18	chr11:86015000-86046000	Weak transcription	NHEK	skin
19	chr11:86015000-86061000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:86015200-86045800	Weak transcription	Osteobl	bone
21	chr11:86015200-86051400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:86015400-86045800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:86015400-86048400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:86015400-86049000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:86015400-86059600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr11:86015600-86048600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:86020400-86057200	Weak transcription	Small Intestine	intestine
28	chr11:86022000-86048800	Weak transcription	Gastric	stomach
29	chr11:86022000-86061000	Weak transcription	Esophagus	oesophagus
30	chr11:86023800-86061200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr11:86024000-86042600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:86024200-86052200	Weak transcription	Colonic Mucosa	Colon
33	chr11:86024600-86057400	Weak transcription	Pancreas	Pancrea
34	chr11:86025000-86061600	Weak transcription	Psoas Muscle	Psoas
35	chr11:86025200-86057800	Weak transcription	HepG2	liver
36	chr11:86026000-86046000	Weak transcription	HMEC	breast
37	chr11:86026000-86049000	Weak transcription	K562	blood
38	chr11:86026800-86037400	Strong transcription	Fetal Stomach	stomach
39	chr11:86027400-86040000	Weak transcription	NHDF-Ad	bronchial
40	chr11:86028400-86048800	Weak transcription	Spleen	Spleen
41	chr11:86028400-86059200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:86029600-86050800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr11:86029800-86037200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:86029800-86038800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr11:86030000-86040200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:86030600-86045600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:86030600-86049000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:86030800-86049200	Weak transcription	Fetal Brain Female	brain
49	chr11:86031800-86048400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:86032400-86039200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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