Variant report

Variant	nsv517438
Chromosome Location	chr20:1159472-1161063
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:1159350..1161426-chr20:1162832..1165667,4	K562	blood:
2	chr20:1148232..1151978-chr20:1158839..1161914,3	K562	blood:
3	chr20:1159986..1162345-chr20:1366654..1368681,3	K562	blood:
4	chr20:1148232..1150262-chr20:1159653..1161340,2	K562	blood:
5	chr20:1160009..1162327-chr20:1170568..1173359,2	K562	blood:
6	chr20:1099416..1102293-chr20:1159326..1161396,2	K562	blood:
7	chr20:1151539..1154295-chr20:1159812..1162890,3	K562	blood:
8	chr20:1154655..1157619-chr20:1157887..1161625,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSMF1-1	chr20:1160505-1160596	ENSG00000243473.1

No data

Variant related genes	Relation type
ENSG00000125895	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6033024	chr20:1159472-1159473	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142945489	chr20:1159478-1159479	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529895238	chr20:1159512-1159513	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567313562	chr20:1159515-1159516	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543027745	chr20:1159517-1159518	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs371350084	chr20:1159521-1159522	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs56019233	chr20:1159530-1159531	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs6131148	chr20:1159554-1159555	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546604160	chr20:1159620-1159621	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567151543	chr20:1159641-1159642	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189512472	chr20:1159643-1159644	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs117362147	chr20:1159647-1159648	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141019776	chr20:1159676-1159677	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571512098	chr20:1159731-1159732	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181570681	chr20:1159769-1159770	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557192460	chr20:1159790-1159791	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185943371	chr20:1159793-1159794	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372863518	chr20:1159859-1159860	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs6131152	chr20:1159877-1159878	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556699057	chr20:1159886-1159887	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs59254825	chr20:1159950-1159951	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553363995	chr20:1159977-1159978	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73893616	chr20:1159995-1159996	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188167270	chr20:1160066-1160067	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559211453	chr20:1160079-1160080	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530734209	chr20:1160095-1160096	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs112192859	chr20:1160096-1160097	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113903399	chr20:1160097-1160098	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs74705893	chr20:1160143-1160144	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181747392	chr20:1160158-1160159	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs73893618	chr20:1160222-1160223	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566177977	chr20:1160230-1160231	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186323022	chr20:1160244-1160245	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551669302	chr20:1160264-1160265	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547964091	chr20:1160307-1160308	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs190382513	chr20:1160327-1160328	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs571576478	chr20:1160376-1160377	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs183330720	chr20:1160442-1160443	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs73893635	chr20:1160458-1160459	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs62186516	chr20:1160474-1160475	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539312310	chr20:1160477-1160478	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372073752	chr20:1160487-1160488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs187102881	chr20:1160495-1160496	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373921924	chr20:1160524-1160525	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs368897726	chr20:1160530-1160531	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs138848675	chr20:1160605-1160606	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569063126	chr20:1160613-1160614	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573277329	chr20:1160617-1160618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs545380558	chr20:1160661-1160662	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369279446	chr20:1160687-1160688	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Glioblastoma multiforme	22286061	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	19455253	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17603634	CNVD
Colorectal cancer	19359472	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16774939	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Medulloblastoma	21979893	CNVD
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
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1135600-1159800	Weak transcription	Fetal Heart	heart
2	chr20:1143000-1161600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr20:1147000-1161400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:1150000-1161800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr20:1150200-1164200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:1150600-1163000	Weak transcription	Small Intestine	intestine
7	chr20:1150800-1159800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr20:1151000-1163000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr20:1151200-1162400	Weak transcription	HMEC	breast
10	chr20:1151800-1160000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr20:1151800-1162000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr20:1152000-1160600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:1152000-1161600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr20:1152000-1162800	Weak transcription	Fetal Thymus	thymus
15	chr20:1152200-1162800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr20:1152400-1163400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr20:1152600-1161800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr20:1152600-1162200	Weak transcription	Colonic Mucosa	Colon
19	chr20:1152800-1165000	Weak transcription	Brain Substantia Nigra	brain
20	chr20:1153600-1160200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr20:1153600-1160600	Weak transcription	Left Ventricle	heart
22	chr20:1153800-1159600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr20:1153800-1163200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr20:1153800-1165400	Weak transcription	A549	lung
25	chr20:1154000-1162200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr20:1154000-1162200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr20:1154000-1162600	Weak transcription	GM12878-XiMat	blood
28	chr20:1154000-1164200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr20:1154400-1160200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr20:1155200-1159800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr20:1155400-1163200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr20:1155800-1161400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr20:1156200-1161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr20:1156200-1161200	Weak transcription	Fetal Brain Male	brain
35	chr20:1156400-1162400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr20:1156400-1164600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr20:1156400-1165000	Weak transcription	Brain Angular Gyrus	brain
38	chr20:1156600-1161800	Weak transcription	Colon Smooth Muscle	Colon
39	chr20:1156600-1163600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr20:1156600-1165000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr20:1156800-1160400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr20:1156800-1161600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr20:1156800-1161800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr20:1156800-1163000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr20:1156800-1163800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr20:1157000-1161600	Weak transcription	Gastric	stomach
47	chr20:1157000-1162400	Weak transcription	Ovary	ovary
48	chr20:1157000-1162600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr20:1157000-1163000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr20:1157200-1161400	Weak transcription	Primary B cells from cord blood	blood

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