Variant report

Variant	nsv585437
Chromosome Location	chr20:13894869-13938789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:275)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:13898073-13898193	K562	blood:	n/a	n/a
2	ATF1	chr20:13897930-13898265	K562	blood:	n/a	n/a
3	CEBPB	chr20:13897912-13898102	K562	blood:	n/a	chr20:13898045-13898056
4	CEBPB	chr20:13910409-13910559	K562	blood:	n/a	n/a
5	CEBPB	chr20:13897930-13898169	Hela-S3	cervix:	n/a	chr20:13898045-13898056
6	CEBPB	chr20:13898953-13899126	K562	blood:	n/a	n/a
7	CEBPB	chr20:13898825-13898981	HepG2	liver:	n/a	n/a
8	CEBPB	chr20:13897882-13898215	K562	blood:	n/a	chr20:13898045-13898056
9	CEBPB	chr20:13897931-13898213	K562	blood:	n/a	chr20:13898045-13898056
10	CEBPB	chr20:13897916-13898196	HepG2	liver:	n/a	chr20:13898045-13898056
11	CEBPB	chr20:13917416-13917578	HepG2	liver:	n/a	chr20:13917519-13917530 chr20:13917519-13917530 chr20:13917517-13917530 chr20:13917517-13917528
12	CTCF	chr20:13933980-13934130	AG10803	skin:	n/a	n/a
13	CTCF	chr20:13933910-13934283	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr20:13934000-13934150	AG04449	skin:	n/a	n/a
15	CTCF	chr20:13921160-13921310	HEK293	kidney:	n/a	n/a
16	CTCF	chr20:13933900-13934050	GM12864	blood:	n/a	n/a
17	CTCF	chr20:13934020-13934170	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr20:13933983-13934167	GM10266	blood:	n/a	n/a
19	CTCF	chr20:13933963-13934135	A549	lung:	n/a	n/a
20	CTCF	chr20:13933980-13934130	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr20:13927268-13927282	Fibrobl	skin:	n/a	n/a
22	CTCF	chr20:13928308-13928390	GM10248	blood:	n/a	n/a
23	CTCF	chr20:13903580-13903730	MCF-7	breast:	n/a	chr20:13903614-13903622
24	CTCF	chr20:13933980-13934130	HepG2	liver:	n/a	n/a
25	CTCF	chr20:13934027-13934151	LNCaP	prostate:	n/a	n/a
26	CTCF	chr20:13916294-13916336	GM20000	blood:	n/a	n/a
27	CTCF	chr20:13934020-13934170	GM12870	blood:	n/a	n/a
28	CTCF	chr20:13927500-13927650	HepG2	liver:	n/a	n/a
29	CTCF	chr20:13933998-13934201	GM12878	blood:	n/a	n/a
30	CTCF	chr20:13933952-13934057	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr20:13896179-13896337	MCF-7	breast:	n/a	chr20:13896206-13896219
32	CTCF	chr20:13933980-13934130	HEK293	kidney:	n/a	n/a
33	CTCF	chr20:13933900-13934050	GM12866	blood:	n/a	n/a
34	CTCF	chr20:13933960-13934110	GM12872	blood:	n/a	n/a
35	CTCF	chr20:13934080-13934230	GM12878	blood:	n/a	n/a
36	CTCF	chr20:13934000-13934150	NHEK	skin:	n/a	n/a
37	CTCF	chr20:13933980-13934130	AG09319	gingival:	n/a	n/a
38	CTCF	chr20:13934020-13934170	GM12871	blood:	n/a	n/a
39	CTCF	chr20:13924820-13924970	GM12865	blood:	n/a	n/a
40	CTCF	chr20:13934004-13934133	GM19239	blood:	n/a	n/a
41	CTCF	chr20:13933990-13934148	NHEK	skin:	n/a	n/a
42	CTCF	chr20:13927100-13927250	HepG2	liver:	n/a	n/a
43	CTCF	chr20:13934020-13934170	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr20:13934040-13934190	HMEC	breast:	n/a	n/a
45	CTCF	chr20:13933998-13934152	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr20:13934012-13934139	MCF-7	breast:	n/a	n/a
47	CTCF	chr20:13934100-13934250	HFF-Myc	foreskin:	n/a	n/a
48	CTCF	chr20:13933960-13934110	HepG2	liver:	n/a	n/a
49	CTCF	chr20:13933920-13934070	GM12873	blood:	n/a	n/a
50	CTCF	chr20:13934000-13934157	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:13922558..13925249-chr20:13926437..13928480,2	K562	blood:
2	chr20:13881625..13883599-chr20:13907242..13908886,2	K562	blood:
3	chr20:13922558..13925249-chr20:13926437..13928480,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEL1L2-1	chr20:13908685-13908962	NONHSAT078701
2	lnc-SEL1L2-1	chr20:13912249-13912420	NONHSAT078700
3	lnc-SEL1L2-1	chr20:13908630-13908868	NONHSAT078700
4	lnc-SEL1L2-1	chr20:13912249-13912409	NONHSAT078701

No data

Variant related genes	Relation type
ENSG00000221328	TF binding region
SEL1L2	TF binding region

Extended variants
information (count: 978 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2327807	chr20:13894869-13894870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540557290	chr20:13894871-13894872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551502262	chr20:13894976-13894977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188170180	chr20:13894980-13894981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192525606	chr20:13895019-13895020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533894527	chr20:13895065-13895066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554159921	chr20:13895150-13895151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368490230	chr20:13895289-13895290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372451641	chr20:13895414-13895415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536587640	chr20:13895425-13895426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576080691	chr20:13895517-13895518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146719690	chr20:13895522-13895523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148887369	chr20:13895556-13895557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184752771	chr20:13895577-13895578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13039800	chr20:13895580-13895581	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs572107743	chr20:13895611-13895612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540640711	chr20:13895646-13895647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17191270	chr20:13895660-13895661	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7509450	chr20:13895674-13895675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529544175	chr20:13895682-13895683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549293581	chr20:13895710-13895711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35631851	chr20:13895715-13895716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562735414	chr20:13895716-13895717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531751213	chr20:13895794-13895795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77354832	chr20:13895797-13895798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112543128	chr20:13895894-13895895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189428774	chr20:13895920-13895921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143601339	chr20:13895934-13895935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368588342	chr20:13895950-13895951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540915184	chr20:13895965-13895966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182183725	chr20:13896004-13896005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369236597	chr20:13896020-13896021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7345955	chr20:13896054-13896055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564257113	chr20:13896062-13896063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7274524	chr20:13896064-13896065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536549515	chr20:13896067-13896068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552216507	chr20:13896099-13896100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76233307	chr20:13896126-13896127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577723338	chr20:13896128-13896129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148047768	chr20:13896137-13896138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73087429	chr20:13896146-13896147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531632871	chr20:13896170-13896171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572011178	chr20:13896190-13896191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79285035	chr20:13896228-13896229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372979526	chr20:13896233-13896234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540280382	chr20:13896253-13896254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554244778	chr20:13896259-13896260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112146436	chr20:13896263-13896264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186669349	chr20:13896340-13896341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34991862	chr20:13896371-13896372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
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
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13892000-13897400	Weak transcription	K562	blood
2	chr20:13892200-13896000	Weak transcription	Gastric	stomach
3	chr20:13894400-13895200	Weak transcription	Fetal Brain Male	brain
4	chr20:13894400-13907000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr20:13894600-13896000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:13894800-13896000	Weak transcription	Adipose Nuclei	Adipose
7	chr20:13895200-13895400	Enhancers	Fetal Brain Male	brain
8	chr20:13895400-13896600	Enhancers	HepG2	liver
9	chr20:13895400-13898200	Weak transcription	Fetal Brain Male	brain
10	chr20:13896000-13896200	Enhancers	Adipose Nuclei	Adipose
11	chr20:13896000-13896200	Enhancers	Gastric	stomach
12	chr20:13896000-13896400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr20:13896000-13896600	Enhancers	Ovary	ovary
14	chr20:13896000-13896600	Enhancers	Psoas Muscle	Psoas
15	chr20:13896200-13896600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr20:13896200-13898800	Weak transcription	Gastric	stomach
17	chr20:13896200-13903000	Weak transcription	Adipose Nuclei	Adipose
18	chr20:13896400-13901000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr20:13897400-13898400	Enhancers	K562	blood
20	chr20:13897600-13898600	Enhancers	Dnd41	blood
21	chr20:13898000-13898200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr20:13898400-13898800	Weak transcription	K562	blood
23	chr20:13898800-13899000	Enhancers	Gastric	stomach
24	chr20:13898800-13899400	Enhancers	K562	blood
25	chr20:13899200-13899800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr20:13901000-13903400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr20:13901800-13906600	Weak transcription	Fetal Brain Male	brain
28	chr20:13902400-13903000	Enhancers	A549	lung
29	chr20:13902600-13903800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr20:13902600-13903800	Enhancers	NHDF-Ad	bronchial
31	chr20:13902800-13903000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr20:13903000-13903200	Flanking Active TSS	A549	lung
33	chr20:13903000-13903400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr20:13903000-13903600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr20:13903000-13903800	Enhancers	Adipose Nuclei	Adipose
36	chr20:13903200-13903400	Active TSS	A549	lung
37	chr20:13903400-13907000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr20:13903800-13907400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr20:13906200-13907000	Active TSS	K562	blood
40	chr20:13906600-13909200	Enhancers	Fetal Brain Male	brain
41	chr20:13907000-13907400	Flanking Active TSS	K562	blood
42	chr20:13907000-13911000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr20:13907000-13911800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr20:13907200-13910000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr20:13907400-13907600	Enhancers	NHEK	skin
46	chr20:13907400-13908800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr20:13907400-13908800	Weak transcription	K562	blood
48	chr20:13907600-13908200	Weak transcription	NHEK	skin
49	chr20:13908200-13909000	Enhancers	HMEC	breast
50	chr20:13908200-13909600	Enhancers	NHEK	skin

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