Variant report

Variant	esv3425741
Chromosome Location	chr20:1256152-1260550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000057019	chromatin interactions

Extended variants
information (count: 195 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:195 , 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	rs555079831	chr20:1256195-1256196	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559673659	chr20:1256348-1256349	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565784206	chr20:1256395-1256396	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573174207	chr20:1256439-1256440	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185086048	chr20:1256471-1256472	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145148539	chr20:1256483-1256484	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577526273	chr20:1256511-1256512	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546558650	chr20:1256524-1256525	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189107891	chr20:1256571-1256572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565468981	chr20:1256572-1256573	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576737703	chr20:1256573-1256574	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376198599	chr20:1256580-1256581	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17717581	chr20:1256598-1256599	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562105856	chr20:1256600-1256601	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527804784	chr20:1256631-1256632	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138970820	chr20:1256691-1256692	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564512596	chr20:1256763-1256764	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17779831	chr20:1256786-1256787	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549694083	chr20:1256814-1256815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181139810	chr20:1256828-1256829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557262780	chr20:1256837-1256838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561149300	chr20:1256848-1256849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565690495	chr20:1256856-1256857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534726501	chr20:1256870-1256871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142672050	chr20:1256878-1256879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55702631	chr20:1256881-1256882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551180391	chr20:1256891-1256892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185780023	chr20:1256892-1256893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4813073	chr20:1256894-1256895	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs17717619	chr20:1256910-1256911	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576822137	chr20:1256919-1256920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6134446	chr20:1256926-1256927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536125420	chr20:1256971-1256972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555929479	chr20:1256997-1256998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6033278	chr20:1256999-1257000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572505416	chr20:1257053-1257054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370542814	chr20:1257089-1257090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149399086	chr20:1257098-1257099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115802108	chr20:1257121-1257122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78498886	chr20:1257129-1257130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147012925	chr20:1257174-1257175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368920216	chr20:1257175-1257176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188783291	chr20:1257184-1257185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180849083	chr20:1257232-1257233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548967596	chr20:1257322-1257323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116437215	chr20:1257353-1257354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528268941	chr20:1257399-1257400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551481001	chr20:1257401-1257402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192099491	chr20:1257465-1257466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144746506	chr20:1257485-1257486	Weak transcription Enhancers	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:139 , 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	chr20:1252800-1256800	Enhancers	Fetal Muscle Leg	muscle
25	chr20:1253000-1256200	Enhancers	Brain Anterior Caudate	brain
26	chr20:1253000-1256800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr20:1253000-1274800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr20:1253800-1260400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr20:1253800-1260400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr20:1253800-1261400	Weak transcription	Gastric	stomach
31	chr20:1253800-1263600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr20:1253800-1285400	Weak transcription	Aorta	Aorta
33	chr20:1254000-1258200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr20:1254000-1259400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr20:1254000-1260400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr20:1254200-1258000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr20:1254200-1266800	Weak transcription	Brain Hippocampus Middle	brain
38	chr20:1254600-1256400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr20:1254600-1258000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr20:1255000-1256400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr20:1255200-1256600	Enhancers	Brain Angular Gyrus	brain
42	chr20:1255400-1257000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr20:1255400-1257600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr20:1255400-1271600	Weak transcription	HSMMtube	muscle
45	chr20:1255600-1256800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr20:1255800-1256200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr20:1255800-1256400	Enhancers	Brain Germinal Matrix	brain
48	chr20:1255800-1256600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr20:1255800-1256600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr20:1255800-1258000	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links