Variant report

Variant	esv2763090
Chromosome Location	chr15:33042338-33072151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FMN1-6	chr15:33057747-33059570	NONHSAT041529

Extended variants
information (count: 1409 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1409 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16958114	chr15:33042338-33042339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529910668	chr15:33042351-33042352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200253598	chr15:33042376-33042377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145349437	chr15:33042377-33042378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191463262	chr15:33042397-33042398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552514058	chr15:33042421-33042422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574128071	chr15:33042430-33042431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17228669	chr15:33042732-33042733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs78843523	chr15:33042757-33042758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149203279	chr15:33042763-33042764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183265562	chr15:33042785-33042786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187809413	chr15:33042831-33042832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12904470	chr15:33042833-33042834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs193288010	chr15:33042911-33042912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201024690	chr15:33042926-33042927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59125471	chr15:33043102-33043103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551792901	chr15:33043185-33043186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185136310	chr15:33043220-33043221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7181459	chr15:33043221-33043222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs11857585	chr15:33043284-33043285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs143345412	chr15:33043297-33043298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562560774	chr15:33043316-33043317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375632417	chr15:33043317-33043318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11853251	chr15:33043368-33043369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs1919360	chr15:33043455-33043456	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs78036911	chr15:33043465-33043466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527544211	chr15:33043481-33043482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1919361	chr15:33043522-33043523	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs570749772	chr15:33043576-33043577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141666958	chr15:33043601-33043602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1919362	chr15:33043657-33043658	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs371716450	chr15:33043699-33043700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368223622	chr15:33043721-33043722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140150085	chr15:33043775-33043776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369157611	chr15:33043784-33043785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548788734	chr15:33043785-33043786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545463878	chr15:33043790-33043791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564134500	chr15:33043791-33043792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572525157	chr15:33043795-33043796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535557177	chr15:33043803-33043804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7166046	chr15:33043835-33043836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs199787928	chr15:33043870-33043871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146967408	chr15:33044015-33044016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190427539	chr15:33044035-33044036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79894323	chr15:33044053-33044054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540060116	chr15:33044060-33044061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147026790	chr15:33044076-33044077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192543488	chr15:33044083-33044084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544186429	chr15:33044136-33044137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556198322	chr15:33044161-33044162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Autism	19521722	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33040600-33045600	Weak transcription	Osteobl	bone
2	chr15:33040600-33053400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:33042200-33048400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr15:33043400-33043800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:33045600-33046200	Strong transcription	Osteobl	bone
6	chr15:33046200-33054000	Weak transcription	Osteobl	bone
7	chr15:33047600-33049400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:33048400-33048800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:33048400-33048800	Active TSS	Brain Anterior Caudate	brain
10	chr15:33048800-33049200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:33049200-33049600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:33049400-33051600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:33049600-33058800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:33051600-33052000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:33052000-33053800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:33053000-33053600	Enhancers	NHDF-Ad	bronchial
17	chr15:33053000-33059200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr15:33053400-33053800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:33053600-33058200	Weak transcription	NHDF-Ad	bronchial
20	chr15:33053800-33055000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:33053800-33058800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:33054000-33054400	Enhancers	GM12878-XiMat	blood
23	chr15:33054000-33054600	Strong transcription	Osteobl	bone
24	chr15:33054400-33055400	Weak transcription	GM12878-XiMat	blood
25	chr15:33054600-33057400	Weak transcription	Osteobl	bone
26	chr15:33054800-33063800	Weak transcription	NHLF	lung
27	chr15:33055000-33058200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr15:33055400-33055800	Enhancers	GM12878-XiMat	blood
29	chr15:33055600-33055800	Enhancers	HSMMtube	muscle
30	chr15:33055800-33057400	Weak transcription	GM12878-XiMat	blood
31	chr15:33055800-33065200	Weak transcription	HSMMtube	muscle
32	chr15:33057400-33057600	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr15:33057400-33057600	Enhancers	GM12878-XiMat	blood
34	chr15:33057400-33057600	Enhancers	Osteobl	bone
35	chr15:33057600-33057800	Genic enhancers	Osteobl	bone
36	chr15:33057600-33062400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr15:33057800-33058800	Enhancers	Osteobl	bone
38	chr15:33058000-33063000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:33058200-33059200	Enhancers	NHDF-Ad	bronchial
40	chr15:33058200-33069800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:33058400-33059800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:33058800-33059000	Enhancers	HSMM	muscle
43	chr15:33058800-33059600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:33058800-33059800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:33058800-33059800	Enhancers	HepG2	liver
46	chr15:33058800-33059800	Genic enhancers	Osteobl	bone
47	chr15:33059000-33063600	Weak transcription	HSMM	muscle
48	chr15:33059200-33059400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr15:33059200-33059400	Enhancers	Esophagus	oesophagus
50	chr15:33059200-33060000	Enhancers	Muscle Satellite Cultured Cells	--

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