Variant report

Variant	esv3511475
Chromosome Location	chr20:23169102-23177300
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	chr20:23139207..23141620-chr20:23172771..23174787,2	K562	blood:
2	chr20:23167380..23172469-chr20:23172590..23175556,6	K562	blood:
3	chr20:23127669..23129280-chr20:23170551..23172653,2	K562	blood:
4	chr20:23128680..23132693-chr20:23173285..23175662,3	K562	blood:
5	chr20:23173550..23175441-chr20:23179224..23181550,2	K562	blood:
6	chr20:23169059..23171573-chr20:23172797..23175263,2	K562	blood:
7	chr20:23159913..23161586-chr20:23172008..23174904,2	K562	blood:
8	chr20:23135912..23138297-chr20:23172308..23174497,2	K562	blood:
9	chr20:23168385..23170767-chr20:23176309..23178503,2	MCF-7	breast:
10	chr20:23173550..23175379-chr20:23179178..23180724,2	K562	blood:
11	chr20:23029649..23032465-chr20:23170734..23172386,2	MCF-7	breast:
12	chr20:23169059..23171573-chr20:23172797..23175263,2	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-CD93-3	chr20:23169415-23169661	XLOC_013690
3	lnc-SSTR4-2	chr20:23170420-23170944	XLOC_013489
4	lnc-SSTR4-2	chr20:23168598-23170942	NONHSAT079044
5	lnc-CD93-3	chr20:23168344-23169272	XLOC_013690
6	lnc-SSTR4-2	chr20:23170420-23170935	XLOC_013489
7	lnc-SSTR4-2	chr20:23170420-23170935	XLOC_013489
8	lnc-SSTR4-2	chr20:23170420-23170904	NONHSAT079045

No data

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

Extended variants
information (count: 300 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:300 , 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	rs370236482	chr20:23169102-23169103	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs117120307	chr20:23169126-23169127	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs550924337	chr20:23169128-23169129	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs201070469	chr20:23169139-23169140	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs147594337	chr20:23169142-23169143	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs11470440	chr20:23169144-23169145	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs561519575	chr20:23169146-23169147	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs111174406	chr20:23169196-23169197	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	rs150971463	chr20:23169603-23169604	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs553243199	chr20:23169645-23169646	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs11470442	chr20:23169661-23169662	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs75003002	chr20:23169663-23169664	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs532440707	chr20:23169686-23169687	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs545071676	chr20:23169694-23169695	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs374184138	chr20:23169715-23169716	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs372684703	chr20:23169761-23169762	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs199670299	chr20:23169781-23169782	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs184660141	chr20:23169796-23169797	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs377145937	chr20:23169815-23169816	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs190339700	chr20:23169835-23169836	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs117591866	chr20:23169873-23169874	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs546867492	chr20:23169893-23169894	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs2024897	chr20:23169926-23169927	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs532642025	chr20:23169949-23169950	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs75676890	chr20:23169971-23169972	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs568926758	chr20:23169986-23169987	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs537822176	chr20:23170016-23170017	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs548665583	chr20:23170022-23170023	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs568422513	chr20:23170056-23170057	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs536489423	chr20:23170070-23170071	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs552888789	chr20:23170135-23170136	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs559762453	chr20:23170139-23170140	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs530078315	chr20:23170171-23170172	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs548410595	chr20:23170185-23170186	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:88 , 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	chr20:23167600-23169400	Enhancers	Fetal Muscle Leg	muscle
4	chr20:23167800-23169600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr20:23168200-23169200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr20:23168400-23169200	Enhancers	Duodenum Mucosa	Duodenum
7	chr20:23168400-23169400	Flanking Active TSS	Hela-S3	cervix
8	chr20:23168400-23169800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
9	chr20:23168600-23169200	Flanking Active TSS	Esophagus	oesophagus
10	chr20:23168600-23169400	Enhancers	HSMM	muscle
11	chr20:23168600-23169800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr20:23168600-23170000	Enhancers	Pancreas	Pancrea
13	chr20:23168600-23170800	Enhancers	Lung	lung
14	chr20:23168800-23170200	Weak transcription	Right Ventricle	heart
15	chr20:23169000-23169200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:23169000-23169200	Flanking Active TSS	Fetal Kidney	kidney
17	chr20:23169000-23169200	Active TSS	Fetal Muscle Trunk	muscle
18	chr20:23169000-23169200	Flanking Active TSS	Placenta	Placenta
19	chr20:23169000-23169200	Flanking Active TSS	HSMMtube	muscle
20	chr20:23169000-23169600	Enhancers	Spleen	Spleen
21	chr20:23169000-23170400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr20:23169200-23169400	Enhancers	Placenta	Placenta
23	chr20:23169200-23169400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr20:23169200-23169600	ZNF genes & repeats	Fetal Kidney	kidney
25	chr20:23169200-23169600	Enhancers	HSMMtube	muscle
26	chr20:23169200-23171000	Enhancers	Esophagus	oesophagus
27	chr20:23169400-23169600	Bivalent/Poised TSS	Fetal Lung	lung
28	chr20:23169400-23170000	Weak transcription	Placenta	Placenta
29	chr20:23169400-23172800	Weak transcription	Fetal Muscle Leg	muscle
30	chr20:23169600-23174200	Weak transcription	HSMMtube	muscle
31	chr20:23169600-23180400	Weak transcription	Spleen	Spleen
32	chr20:23170000-23170800	Enhancers	Placenta	Placenta
33	chr20:23170000-23172800	Weak transcription	Pancreas	Pancrea
34	chr20:23170200-23170600	Enhancers	Right Ventricle	heart
35	chr20:23170400-23170800	Enhancers	GM12878-XiMat	blood
36	chr20:23170400-23170800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr20:23170400-23171000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr20:23170600-23171400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr20:23170600-23174800	Weak transcription	Right Ventricle	heart
40	chr20:23170800-23174200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr20:23170800-23174400	Weak transcription	Placenta	Placenta
42	chr20:23170800-23176200	Weak transcription	GM12878-XiMat	blood
43	chr20:23171000-23171400	Weak transcription	Esophagus	oesophagus
44	chr20:23171000-23174200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr20:23171400-23171600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr20:23171400-23171600	Enhancers	Esophagus	oesophagus
47	chr20:23171400-23171600	Enhancers	NHDF-Ad	bronchial
48	chr20:23171600-23172800	Weak transcription	Esophagus	oesophagus
49	chr20:23172800-23173200	Enhancers	Fetal Muscle Leg	muscle
50	chr20:23172800-23173400	Enhancers	Esophagus	oesophagus

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