Variant report

Variant	esv17036
Chromosome Location	chr20:23168907-23176009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23159913..23161586-chr20:23172008..23174904,2	K562	blood:
2	chr20:23169059..23171573-chr20:23172797..23175263,2	K562	blood:
3	chr20:23029649..23032465-chr20:23170734..23172386,2	MCF-7	breast:
4	chr20:23029838..23032400-chr20:23167323..23168960,2	MCF-7	breast:
5	chr20:23169059..23171573-chr20:23172797..23175263,2	K562	blood:
6	chr20:23173550..23175379-chr20:23179178..23180724,2	K562	blood:
7	chr20:23128680..23132693-chr20:23173285..23175662,3	K562	blood:
8	chr20:23139207..23141620-chr20:23172771..23174787,2	K562	blood:
9	chr20:23127669..23129280-chr20:23170551..23172653,2	K562	blood:
10	chr20:23135912..23138297-chr20:23172308..23174497,2	K562	blood:
11	chr20:23167380..23172469-chr20:23172590..23175556,6	K562	blood:
12	chr20:23173550..23175441-chr20:23179224..23181550,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSTR4-2	chr20:23170420-23170907	XLOC_013489
2	lnc-SSTR4-2	chr20:23170420-23170935	XLOC_013489
3	lnc-SSTR4-2	chr20:23170420-23170935	XLOC_013489
4	lnc-CD93-3	chr20:23168344-23169272	XLOC_013690
5	lnc-SSTR4-2	chr20:23170420-23170944	XLOC_013489
6	lnc-CD93-3	chr20:23169415-23169661	XLOC_013690
7	lnc-SSTR4-2	chr20:23168598-23170942	NONHSAT079044
8	lnc-SSTR4-2	chr20:23170420-23170904	NONHSAT079045

No data

Variant related genes	Relation type
ENSG00000201527	chromatin interactions
ENSG00000230387	chromatin interactions
ENSG00000178726	chromatin interactions
VDAC1	miRNA target sites
FOXJ3	miRNA target sites
ZNF609	miRNA target sites

Extended variants
information (count: 268 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557096668	chr20:23168912-23168913	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs538293929	chr20:23168919-23168920	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs573886163	chr20:23168924-23168925	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs542922184	chr20:23168953-23168954	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs559356600	chr20:23168961-23168962	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs553341978	chr20:23169000-23169001	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs199971149	chr20:23169039-23169040	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs369320960	chr20:23169040-23169041	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs572880894	chr20:23169077-23169078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs544982309	chr20:23169096-23169097	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs370236482	chr20:23169102-23169103	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs117120307	chr20:23169126-23169127	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs550924337	chr20:23169128-23169129	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs201070469	chr20:23169139-23169140	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs147594337	chr20:23169142-23169143	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs11470440	chr20:23169144-23169145	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs561519575	chr20:23169146-23169147	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs111174406	chr20:23169196-23169197	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs530200445	chr20:23169228-23169229	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs547296207	chr20:23169233-23169234	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs144195063	chr20:23169268-23169269	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs146944654	chr20:23169279-23169280	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs202086993	chr20:23169282-23169283	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs567010628	chr20:23169290-23169291	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs369117383	chr20:23169294-23169295	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs538686380	chr20:23169307-23169308	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs552147222	chr20:23169326-23169327	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs569035325	chr20:23169365-23169366	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs576171311	chr20:23169389-23169390	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs149216999	chr20:23169414-23169415	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs537932347	chr20:23169432-23169433	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs534150441	chr20:23169518-23169519	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs554731060	chr20:23169551-23169552	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs573800721	chr20:23169579-23169580	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs150971463	chr20:23169603-23169604	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs553243199	chr20:23169645-23169646	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs11470442	chr20:23169661-23169662	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs75003002	chr20:23169663-23169664	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs532440707	chr20:23169686-23169687	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs545071676	chr20:23169694-23169695	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs374184138	chr20:23169715-23169716	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs372684703	chr20:23169761-23169762	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs199670299	chr20:23169781-23169782	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs184660141	chr20:23169796-23169797	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs377145937	chr20:23169815-23169816	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs190339700	chr20:23169835-23169836	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs117591866	chr20:23169873-23169874	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs546867492	chr20:23169893-23169894	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs2024897	chr20:23169926-23169927	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs532642025	chr20:23169949-23169950	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23162000-23174200	Weak transcription	Left Ventricle	heart
2	chr20:23167200-23170000	Weak transcription	Gastric	stomach
3	chr20:23167400-23169000	Enhancers	Stomach Mucosa	stomach
4	chr20:23167600-23169400	Enhancers	Fetal Muscle Leg	muscle
5	chr20:23167800-23169600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr20:23168000-23169000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr20:23168200-23169200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr20:23168400-23169200	Enhancers	Duodenum Mucosa	Duodenum
9	chr20:23168400-23169400	Flanking Active TSS	Hela-S3	cervix
10	chr20:23168400-23169800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
11	chr20:23168600-23169000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr20:23168600-23169000	Flanking Active TSS	Fetal Muscle Trunk	muscle
13	chr20:23168600-23169200	Flanking Active TSS	Esophagus	oesophagus
14	chr20:23168600-23169400	Enhancers	HSMM	muscle
15	chr20:23168600-23169800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr20:23168600-23170000	Enhancers	Pancreas	Pancrea
17	chr20:23168600-23170800	Enhancers	Lung	lung
18	chr20:23168800-23169000	Active TSS	Fetal Kidney	kidney
19	chr20:23168800-23169000	Enhancers	Placenta	Placenta
20	chr20:23168800-23169000	Weak transcription	Spleen	Spleen
21	chr20:23168800-23169000	Enhancers	HSMMtube	muscle
22	chr20:23168800-23170200	Weak transcription	Right Ventricle	heart
23	chr20:23169000-23169200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr20:23169000-23169200	Flanking Active TSS	Fetal Kidney	kidney
25	chr20:23169000-23169200	Active TSS	Fetal Muscle Trunk	muscle
26	chr20:23169000-23169200	Flanking Active TSS	Placenta	Placenta
27	chr20:23169000-23169200	Flanking Active TSS	HSMMtube	muscle
28	chr20:23169000-23169600	Enhancers	Spleen	Spleen
29	chr20:23169000-23170400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr20:23169200-23169400	Enhancers	Placenta	Placenta
31	chr20:23169200-23169400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr20:23169200-23169600	ZNF genes & repeats	Fetal Kidney	kidney
33	chr20:23169200-23169600	Enhancers	HSMMtube	muscle
34	chr20:23169200-23171000	Enhancers	Esophagus	oesophagus
35	chr20:23169400-23169600	Bivalent/Poised TSS	Fetal Lung	lung
36	chr20:23169400-23170000	Weak transcription	Placenta	Placenta
37	chr20:23169400-23172800	Weak transcription	Fetal Muscle Leg	muscle
38	chr20:23169600-23174200	Weak transcription	HSMMtube	muscle
39	chr20:23169600-23180400	Weak transcription	Spleen	Spleen
40	chr20:23170000-23170800	Enhancers	Placenta	Placenta
41	chr20:23170000-23172800	Weak transcription	Pancreas	Pancrea
42	chr20:23170200-23170600	Enhancers	Right Ventricle	heart
43	chr20:23170400-23170800	Enhancers	GM12878-XiMat	blood
44	chr20:23170400-23170800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr20:23170400-23171000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr20:23170600-23171400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr20:23170600-23174800	Weak transcription	Right Ventricle	heart
48	chr20:23170800-23174200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr20:23170800-23174400	Weak transcription	Placenta	Placenta
50	chr20:23170800-23176200	Weak transcription	GM12878-XiMat	blood

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