Variant report

Variant	esv3360127
Chromosome Location	chr20:1256852-1259950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1208115..1209766-chr20:1255671..1257472,2	K562	blood:
2	chr20:1257491..1258060-chr3:98620025..98620762,2	HCT-116	colon:
3	chr20:1255205..1257477-chr20:1260492..1263462,2	K562	blood:

Variant related genes	Relation type
ENSG00000057019	chromatin interactions

Extended variants
information (count: 155 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565690495	chr20:1256856-1256857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534726501	chr20:1256870-1256871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142672050	chr20:1256878-1256879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs55702631	chr20:1256881-1256882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551180391	chr20:1256891-1256892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185780023	chr20:1256892-1256893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4813073	chr20:1256894-1256895	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs17717619	chr20:1256910-1256911	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576822137	chr20:1256919-1256920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6134446	chr20:1256926-1256927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536125420	chr20:1256971-1256972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555929479	chr20:1256997-1256998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6033278	chr20:1256999-1257000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572505416	chr20:1257053-1257054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370542814	chr20:1257089-1257090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149399086	chr20:1257098-1257099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115802108	chr20:1257121-1257122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78498886	chr20:1257129-1257130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147012925	chr20:1257174-1257175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368920216	chr20:1257175-1257176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188783291	chr20:1257184-1257185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180849083	chr20:1257232-1257233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548967596	chr20:1257322-1257323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116437215	chr20:1257353-1257354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528268941	chr20:1257399-1257400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551481001	chr20:1257401-1257402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192099491	chr20:1257465-1257466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144746506	chr20:1257485-1257486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535620777	chr20:1257514-1257515	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550613935	chr20:1257537-1257538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368641113	chr20:1257608-1257609	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs6041052	chr20:1257655-1257656	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148532557	chr20:1257662-1257663	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536153080	chr20:1257777-1257778	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs183924962	chr20:1257793-1257794	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs59587945	chr20:1257855-1257856	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371440069	chr20:1257856-1257857	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572631021	chr20:1257900-1257901	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs374632801	chr20:1257939-1257940	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12480976	chr20:1257960-1257961	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551648441	chr20:1258042-1258043	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571597622	chr20:1258048-1258049	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577739239	chr20:1258053-1258054	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs569484492	chr20:1258056-1258057	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs199819335	chr20:1258058-1258059	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201163766	chr20:1258068-1258069	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs571606018	chr20:1258072-1258073	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs370282643	chr20:1258088-1258089	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs144070827	chr20:1258116-1258117	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs386811595	chr20:1258119-1258120	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1247800-1261000	Weak transcription	Right Ventricle	heart
2	chr20:1247800-1262000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr20:1248000-1260600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr20:1248000-1260800	Weak transcription	Osteobl	bone
5	chr20:1248000-1266800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr20:1248000-1271800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:1248000-1278600	Weak transcription	Spleen	Spleen
8	chr20:1248200-1260400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr20:1248200-1260600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr20:1248200-1265000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr20:1248200-1277400	Weak transcription	Fetal Stomach	stomach
12	chr20:1248200-1281200	Weak transcription	NHEK	skin
13	chr20:1248400-1261400	Weak transcription	Colon Smooth Muscle	Colon
14	chr20:1248600-1266800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr20:1248800-1258000	Weak transcription	NHLF	lung
16	chr20:1248800-1263600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr20:1249000-1281400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr20:1249800-1258000	Weak transcription	Pancreas	Pancrea
19	chr20:1249800-1262200	Weak transcription	Left Ventricle	heart
20	chr20:1251800-1267000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr20:1252000-1264800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr20:1252000-1267200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr20:1252400-1259800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr20:1253000-1274800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr20:1253800-1260400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr20:1253800-1260400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr20:1253800-1261400	Weak transcription	Gastric	stomach
28	chr20:1253800-1263600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr20:1253800-1285400	Weak transcription	Aorta	Aorta
30	chr20:1254000-1258200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr20:1254000-1259400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr20:1254000-1260400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr20:1254200-1258000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr20:1254200-1266800	Weak transcription	Brain Hippocampus Middle	brain
35	chr20:1254600-1258000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr20:1255400-1257000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr20:1255400-1257600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr20:1255400-1271600	Weak transcription	HSMMtube	muscle
39	chr20:1255800-1258000	Weak transcription	Lung	lung
40	chr20:1255800-1258200	Enhancers	K562	blood
41	chr20:1256000-1260200	Weak transcription	Primary T cells from cord blood	blood
42	chr20:1256000-1277800	Weak transcription	Fetal Brain Female	brain
43	chr20:1256200-1260800	Weak transcription	Brain Anterior Caudate	brain
44	chr20:1256400-1257000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr20:1256400-1258000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr20:1256400-1262000	Weak transcription	Brain Germinal Matrix	brain
47	chr20:1256400-1277400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr20:1256600-1257200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr20:1256600-1257400	Weak transcription	Brain Angular Gyrus	brain
50	chr20:1256800-1257600	Weak transcription	Brain Inferior Temporal Lobe	brain

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