Variant report

Variant	esv3345820
Chromosome Location	chr22:33718237-33719738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TIMP3-5	chr22:33718491-33718799	ENSG00000230741.1

Extended variants
information (count: 60 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553365751	chr22:33718256-33718257	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4373005	chr22:33718315-33718316	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572248595	chr22:33718367-33718368	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534960028	chr22:33718372-33718373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs8138517	chr22:33718416-33718417	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150906307	chr22:33718431-33718432	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574246891	chr22:33718483-33718484	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531875361	chr22:33718588-33718589	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs139396819	chr22:33718599-33718600	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs369808275	chr22:33718610-33718611	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs563013108	chr22:33718611-33718612	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs576567177	chr22:33718639-33718640	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs545461828	chr22:33718679-33718680	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs559345643	chr22:33718680-33718681	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs548867344	chr22:33718681-33718682	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs548820257	chr22:33718697-33718698	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs186689352	chr22:33718699-33718700	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs191245354	chr22:33718800-33718801	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149462259	chr22:33718804-33718805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551211866	chr22:33718830-33718831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74653579	chr22:33718836-33718837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539949924	chr22:33718837-33718838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145950273	chr22:33718883-33718884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs5998873	chr22:33718898-33718899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566818625	chr22:33718925-33718926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535485507	chr22:33718926-33718927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139802011	chr22:33718937-33718938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs5994717	chr22:33718940-33718941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568033067	chr22:33718964-33718965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534190003	chr22:33718977-33718978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143319751	chr22:33718980-33718981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146692347	chr22:33718981-33718982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148456190	chr22:33718985-33718986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184878621	chr22:33719064-33719065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113653487	chr22:33719065-33719066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142600916	chr22:33719102-33719103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567928431	chr22:33719103-33719104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199630671	chr22:33719107-33719108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182126827	chr22:33719115-33719116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562333563	chr22:33719153-33719154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555907744	chr22:33719154-33719155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151013903	chr22:33719175-33719176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs8135054	chr22:33719193-33719194	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533372027	chr22:33719214-33719215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547025926	chr22:33719262-33719263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140901019	chr22:33719267-33719268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529255516	chr22:33719412-33719413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549003362	chr22:33719438-33719439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114654121	chr22:33719461-33719462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185238696	chr22:33719469-33719470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33660000-33722800	Weak transcription	HSMMtube	muscle
2	chr22:33667600-33724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr22:33668800-33720400	Weak transcription	Psoas Muscle	Psoas
4	chr22:33673400-33726400	Weak transcription	Colonic Mucosa	Colon
5	chr22:33673400-33735000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:33676600-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:33679400-33733200	Weak transcription	Fetal Brain Female	brain
8	chr22:33679400-33743800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr22:33690200-33718400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:33696200-33725000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr22:33696200-33748000	Weak transcription	Fetal Lung	lung
12	chr22:33696400-33725000	Weak transcription	Stomach Mucosa	stomach
13	chr22:33696600-33721600	Weak transcription	Fetal Kidney	kidney
14	chr22:33698400-33718400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:33698600-33736400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr22:33698800-33719800	Weak transcription	HepG2	liver
17	chr22:33699400-33722800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr22:33699400-33731800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr22:33704600-33723400	Weak transcription	Aorta	Aorta
20	chr22:33707000-33720400	Weak transcription	Fetal Heart	heart
21	chr22:33710400-33733400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr22:33710400-33733400	Weak transcription	Spleen	Spleen
23	chr22:33710600-33740000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr22:33710800-33726400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr22:33710800-33726400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:33711200-33722600	Weak transcription	Fetal Muscle Leg	muscle
27	chr22:33711200-33735800	Weak transcription	Colon Smooth Muscle	Colon
28	chr22:33711400-33726800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr22:33711400-33733000	Weak transcription	Brain Anterior Caudate	brain
30	chr22:33711600-33718400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:33711600-33731800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:33712200-33718400	Weak transcription	Adipose Nuclei	Adipose
33	chr22:33712200-33724800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr22:33712200-33725000	Weak transcription	Fetal Intestine Large	intestine
35	chr22:33712200-33725000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr22:33712200-33730600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr22:33712200-33731600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr22:33712200-33732600	Weak transcription	Brain Hippocampus Middle	brain
39	chr22:33712200-33733200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr22:33712200-33735200	Weak transcription	Brain Angular Gyrus	brain
41	chr22:33712400-33719200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr22:33712400-33720400	Weak transcription	Liver	Liver
43	chr22:33712400-33722600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr22:33712400-33724800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr22:33712400-33726400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr22:33712400-33729400	Weak transcription	Ovary	ovary
47	chr22:33712400-33730600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr22:33712400-33730600	Weak transcription	Gastric	stomach
49	chr22:33712400-33733200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr22:33712400-33733200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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