Variant report

Variant	nsv38614
Chromosome Location	chr11:32986328-32987490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10082613	chr11:32986329-32986330	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577171755	chr11:32986343-32986344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556116354	chr11:32986430-32986431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563630974	chr11:32986446-32986447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60815709	chr11:32986471-32986472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574691929	chr11:32986648-32986649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35283331	chr11:32986655-32986656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376671719	chr11:32986680-32986681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117851413	chr11:32986685-32986686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572286552	chr11:32986694-32986695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531026563	chr11:32986710-32986711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544750506	chr11:32986718-32986719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564443691	chr11:32986720-32986721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374067881	chr11:32986749-32986750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533443100	chr11:32986750-32986751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551796744	chr11:32986764-32986765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565323134	chr11:32986819-32986820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150560062	chr11:32986826-32986827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2092657	chr11:32986832-32986833	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs568117131	chr11:32986849-32986850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10082575	chr11:32986850-32986851	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs186190361	chr11:32986938-32986939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190115849	chr11:32986943-32986944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200836655	chr11:32986971-32986972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182681522	chr11:32987035-32987036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539725723	chr11:32987044-32987045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186608466	chr11:32987045-32987046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573291776	chr11:32987115-32987116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535814593	chr11:32987119-32987120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555584474	chr11:32987147-32987148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575654509	chr11:32987150-32987151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189830154	chr11:32987253-32987254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12287776	chr11:32987264-32987265	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562897387	chr11:32987276-32987277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199973718	chr11:32987284-32987285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371831993	chr11:32987308-32987309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149737968	chr11:32987328-32987329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34337873	chr11:32987371-32987372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183148875	chr11:32987392-32987393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201170445	chr11:32987395-32987396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548119565	chr11:32987484-32987485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs5790910	chr11:32987490-32987491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Hodgkin''s lymphoma	17606441	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
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32950400-32994400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:32954600-32990200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:32955400-32994200	Weak transcription	Gastric	stomach
4	chr11:32955400-32994400	Weak transcription	Esophagus	oesophagus
5	chr11:32955600-32987200	Weak transcription	Right Ventricle	heart
6	chr11:32955600-33000800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:32955600-33003800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:32956200-32994200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:32956800-32994200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:32962400-32994400	Weak transcription	Fetal Heart	heart
11	chr11:32968200-32994200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:32968200-32998800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:32968200-33002000	Weak transcription	Brain Substantia Nigra	brain
14	chr11:32968200-33003000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:32968800-33002000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:32969600-32997000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:32970200-33001800	Weak transcription	Psoas Muscle	Psoas
18	chr11:32971800-32999600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:32973000-33003200	Weak transcription	NHLF	lung
20	chr11:32973200-33008600	Weak transcription	HSMMtube	muscle
21	chr11:32973600-32996000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:32974400-32996200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:32975200-32988800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:32975200-33000600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:32975200-33000600	Strong transcription	Hela-S3	cervix
26	chr11:32975200-33001800	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:32975400-32988000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:32975400-32989000	Strong transcription	Fetal Intestine Large	intestine
29	chr11:32975400-32992800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:32975400-33000600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:32975400-33000800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr11:32975600-33000600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:32975600-33002200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:32975800-33001000	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr11:32975800-33001800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:32975800-33002000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:32975800-33002000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:32975800-33003000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:32976000-32991400	Weak transcription	NHEK	skin
40	chr11:32976000-32995200	Weak transcription	Fetal Brain Male	brain
41	chr11:32976200-33000200	Weak transcription	Aorta	Aorta
42	chr11:32977800-32995800	Weak transcription	HMEC	breast
43	chr11:32978200-33000400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr11:32978600-33000200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:32978600-33002000	Weak transcription	Colonic Mucosa	Colon
46	chr11:32978800-32989400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr11:32979600-33009400	Weak transcription	Stomach Mucosa	stomach
48	chr11:32980000-32988000	Weak transcription	HUVEC	blood vessel
49	chr11:32980200-32991600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:32980200-32994200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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