Variant report

Variant	nsv975902
Chromosome Location	chr11:35395783-35397146
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	BHLHE40	chr11:35396853-35397016	GM12878	blood:	n/a	n/a
2	CEBPB	chr11:35396426-35396603	A549	lung:	n/a	n/a
3	CTCF	chr11:35396980-35397130	GM12873	blood:	n/a	chr11:35397034-35397042
4	CTCF	chr11:35397120-35397270	GM12874	blood:	n/a	n/a
5	MYC	chr11:35396342-35396504	MCF10A-Er-Src	breast:	n/a	n/a
6	RUNX3	chr11:35396752-35397240	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD44-6	chr11:35395812-35396021	NONHSAT018790

Variant related genes	Relation type
ENSG00000215380	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187849094	chr11:35395800-35395801	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146777764	chr11:35395818-35395819	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs552863570	chr11:35395832-35395833	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs34471197	chr11:35395833-35395834	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs572772978	chr11:35395839-35395840	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs541697982	chr11:35395875-35395876	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs555570917	chr11:35395929-35395930	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs192013734	chr11:35395937-35395938	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs1923300	chr11:35395940-35395941	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs1923301	chr11:35395977-35395978	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs184467176	chr11:35395993-35395994	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs540208159	chr11:35396003-35396004	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs560171020	chr11:35396026-35396027	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529651768	chr11:35396027-35396028	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34269233	chr11:35396051-35396052	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549404880	chr11:35396087-35396088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569481479	chr11:35396091-35396092	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375781594	chr11:35396107-35396108	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186993838	chr11:35396121-35396122	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192528957	chr11:35396124-35396125	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571374272	chr11:35396129-35396130	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533952091	chr11:35396145-35396146	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553775717	chr11:35396151-35396152	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567303915	chr11:35396157-35396158	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535779231	chr11:35396185-35396186	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373515443	chr11:35396220-35396221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374720604	chr11:35396244-35396245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184914390	chr11:35396250-35396251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34327791	chr11:35396261-35396262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147940527	chr11:35396343-35396344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537601741	chr11:35396351-35396352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557910308	chr11:35396397-35396398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7119804	chr11:35396406-35396407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540315623	chr11:35396431-35396432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141745230	chr11:35396444-35396445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7103668	chr11:35396511-35396512	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189030399	chr11:35396535-35396536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563001936	chr11:35396580-35396581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531950045	chr11:35396607-35396608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551653877	chr11:35396667-35396668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565113693	chr11:35396693-35396694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527812024	chr11:35396732-35396733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180986928	chr11:35396741-35396742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571189504	chr11:35396782-35396783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547474427	chr11:35396889-35396890	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536380546	chr11:35396901-35396902	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567369729	chr11:35396990-35396991	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538514653	chr11:35397005-35397006	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536205104	chr11:35397033-35397034	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549268196	chr11:35397054-35397055	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35386400-35398600	Weak transcription	Fetal Brain Female	brain
2	chr11:35389000-35406400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:35389200-35408600	Weak transcription	Aorta	Aorta
4	chr11:35389800-35398400	Weak transcription	NHLF	lung
5	chr11:35389800-35398400	Weak transcription	Osteobl	bone
6	chr11:35390400-35401800	Weak transcription	Right Atrium	heart
7	chr11:35390600-35399000	Weak transcription	Brain Substantia Nigra	brain
8	chr11:35390600-35401800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:35392400-35402600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:35393200-35398400	Weak transcription	Brain Angular Gyrus	brain
11	chr11:35393800-35396200	Enhancers	Hela-S3	cervix
12	chr11:35394400-35395800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:35394600-35396000	Enhancers	Left Ventricle	heart
14	chr11:35395000-35395800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:35395000-35395800	Enhancers	Duodenum Mucosa	Duodenum
16	chr11:35395000-35395800	Genic enhancers	Pancreas	Pancrea
17	chr11:35395000-35401800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:35395200-35398400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:35395200-35398800	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:35395200-35399200	Weak transcription	Brain Anterior Caudate	brain
21	chr11:35395400-35395800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr11:35395400-35396800	Weak transcription	GM12878-XiMat	blood
23	chr11:35395400-35397000	Weak transcription	Stomach Mucosa	stomach
24	chr11:35395400-35398400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:35395400-35398800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:35395400-35398800	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:35395400-35399600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:35395600-35396000	Enhancers	A549	lung
29	chr11:35395600-35397200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:35395600-35397200	Weak transcription	NHDF-Ad	bronchial
31	chr11:35395600-35401000	Weak transcription	Psoas Muscle	Psoas
32	chr11:35395600-35401000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:35395600-35401000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:35395800-35396800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:35395800-35397000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:35395800-35398400	Weak transcription	Pancreas	Pancrea
37	chr11:35396000-35401800	Weak transcription	Left Ventricle	heart
38	chr11:35396800-35397200	Enhancers	GM12878-XiMat	blood
39	chr11:35396800-35397600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:35397000-35397200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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