Variant report

Variant	esv3328916
Chromosome Location	chr11:36308526-36309004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:36308553..36310519-chr3:28494833..28496353,2	K562	blood:
2	chr11:36303032..36306180-chr11:36307506..36310865,3	K562	blood:
3	chr11:36281244..36283748-chr11:36307476..36309302,2	MCF-7	breast:

Extended variants
information (count: 135 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189540097	chr11:36308558-36308559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201611441	chr11:36308596-36308597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199755276	chr11:36308601-36308602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113053181	chr11:36308604-36308605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201050783	chr11:36308606-36308607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147713933	chr11:36308610-36308611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200695645	chr11:36308614-36308615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549487168	chr11:36308615-36308616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373429856	chr11:36308617-36308618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72643415	chr11:36308619-36308620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369000981	chr11:36308622-36308623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11033528	chr11:36308623-36308624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11033529	chr11:36308624-36308625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115181943	chr11:36308625-36308626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200670695	chr11:36308629-36308630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12285892	chr11:36308636-36308637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200652849	chr11:36308638-36308639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573616979	chr11:36308641-36308642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376058197	chr11:36308642-36308643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12420032	chr11:36308643-36308644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542274148	chr11:36308647-36308648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74940641	chr11:36308651-36308652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11033530	chr11:36308655-36308656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11033531	chr11:36308656-36308657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117042533	chr11:36308657-36308658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527481418	chr11:36308661-36308662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12285939	chr11:36308668-36308669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372251103	chr11:36308670-36308671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71864275	chr11:36308674-36308675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12420038	chr11:36308675-36308676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549128664	chr11:36308679-36308680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568864682	chr11:36308683-36308684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11033532	chr11:36308687-36308688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11033533	chr11:36308688-36308689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138895525	chr11:36308689-36308690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12285947	chr11:36308700-36308701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554309332	chr11:36308702-36308703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567886837	chr11:36308703-36308704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12420043	chr11:36308707-36308708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555898417	chr11:36308711-36308712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576101230	chr11:36308715-36308716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141371443	chr11:36308719-36308720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150383952	chr11:36308720-36308721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138028233	chr11:36308721-36308722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs181710293	chr11:36308725-36308726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12285953	chr11:36308732-36308733	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs189413940	chr11:36308734-36308735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574647494	chr11:36308735-36308736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12420045	chr11:36308739-36308740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180857894	chr11:36308747-36308748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36288000-36310200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:36290800-36310400	Weak transcription	Stomach Mucosa	stomach
3	chr11:36292000-36309600	Weak transcription	Psoas Muscle	Psoas
4	chr11:36292200-36309600	Weak transcription	A549	lung
5	chr11:36295000-36310000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:36296400-36309800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:36296600-36309600	Weak transcription	Fetal Lung	lung
8	chr11:36296600-36309600	Weak transcription	NHLF	lung
9	chr11:36298200-36310000	Weak transcription	NHDF-Ad	bronchial
10	chr11:36298400-36309400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:36300600-36309600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:36300600-36309600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:36300600-36309600	Weak transcription	Right Ventricle	heart
14	chr11:36300800-36309200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:36300800-36309600	Weak transcription	Pancreas	Pancrea
16	chr11:36300800-36309600	Weak transcription	Spleen	Spleen
17	chr11:36300800-36310000	Weak transcription	Colonic Mucosa	Colon
18	chr11:36300800-36310000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:36300800-36310000	Weak transcription	Gastric	stomach
20	chr11:36301000-36309200	Weak transcription	Dnd41	blood
21	chr11:36301000-36309400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:36301000-36309600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:36301000-36309800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:36301000-36309800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:36301200-36309400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:36301200-36309400	Weak transcription	HepG2	liver
27	chr11:36301200-36309600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr11:36301200-36309800	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:36301200-36310200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:36301400-36309200	Weak transcription	Brain Angular Gyrus	brain
31	chr11:36301400-36309400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:36301400-36309600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:36301600-36310000	Weak transcription	Placenta	Placenta
34	chr11:36301800-36309200	Weak transcription	Fetal Brain Female	brain
35	chr11:36301800-36309600	Weak transcription	Left Ventricle	heart
36	chr11:36301800-36310000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:36302000-36309200	Weak transcription	Liver	Liver
38	chr11:36302000-36310000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:36302000-36310000	Weak transcription	Thymus	Thymus
40	chr11:36302200-36309400	Weak transcription	HUVEC	blood vessel
41	chr11:36302200-36309600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:36302200-36309600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:36302200-36310000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:36302400-36309400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:36302400-36309400	Weak transcription	Adipose Nuclei	Adipose
46	chr11:36302400-36309600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr11:36302400-36309600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:36302400-36309600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr11:36302400-36310000	Weak transcription	Fetal Muscle Leg	muscle
50	chr11:36302400-36310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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