Variant report

Variant	esv2020215
Chromosome Location	chr20:25198453-25198788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:25198194-25199031	HepG2	liver:	n/a	n/a
2	ZNF263	chr20:25198153-25198950	HEK293-T-REx	kidney:	n/a	chr20:25198626-25198647 chr20:25198603-25198624

No.	Distal block	Cell Line	Cell type
1	chr20:25197398..25199185-chr20:25202429..25205309,3	K562	blood:
2	chr20:25176590..25179411-chr20:25196913..25199010,2	MCF-7	breast:
3	chr20:25196698..25199076-chr20:25201135..25203929,2	K562	blood:

Variant related genes	Relation type
ENTPD6	TF binding region
ENSG00000197586	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112002958	chr20:25198493-25198494	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372675892	chr20:25198500-25198501	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs112157724	chr20:25198501-25198502	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs367945239	chr20:25198508-25198509	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565735698	chr20:25198510-25198511	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs56110625	chr20:25198540-25198541	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs535027956	chr20:25198570-25198571	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs55879612	chr20:25198587-25198588	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs55872716	chr20:25198594-25198595	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs374030811	chr20:25198603-25198604	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs530286411	chr20:25198625-25198626	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs199536265	chr20:25198626-25198627	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs370863367	chr20:25198640-25198641	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs578143858	chr20:25198661-25198662	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs543673875	chr20:25198664-25198665	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs557493062	chr20:25198672-25198673	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs61427951	chr20:25198680-25198681	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs146369864	chr20:25198685-25198686	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs559436251	chr20:25198706-25198707	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs61539590	chr20:25198708-25198709	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs368345491	chr20:25198712-25198713	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs55729866	chr20:25198722-25198723	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs66856757	chr20:25198724-25198725	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs57154427	chr20:25198726-25198727	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs113932241	chr20:25198730-25198731	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs545351836	chr20:25198758-25198759	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs565055666	chr20:25198759-25198760	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs540899096	chr20:25198770-25198771	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs60479943	chr20:25198772-25198773	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	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
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25178400-25203800	Weak transcription	Small Intestine	intestine
2	chr20:25178400-25203800	Weak transcription	Hela-S3	cervix
3	chr20:25178600-25200400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr20:25178600-25212200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr20:25180000-25207600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:25181800-25202000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr20:25186400-25203200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr20:25189000-25203000	Weak transcription	K562	blood
9	chr20:25190200-25202800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr20:25190200-25202800	Strong transcription	Fetal Intestine Small	intestine
11	chr20:25190200-25206800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr20:25190400-25199200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:25190400-25199400	Strong transcription	Primary hematopoietic stem cells	blood
14	chr20:25190400-25200000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr20:25190400-25200000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr20:25190400-25200000	Strong transcription	Lung	lung
17	chr20:25190400-25200200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr20:25190400-25200200	Strong transcription	Fetal Muscle Leg	muscle
19	chr20:25190400-25200200	Strong transcription	Stomach Smooth Muscle	stomach
20	chr20:25190400-25200400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr20:25190400-25200400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr20:25190400-25200400	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr20:25190400-25200400	Strong transcription	A549	lung
24	chr20:25190400-25200400	Strong transcription	HepG2	liver
25	chr20:25190400-25200600	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr20:25190400-25200600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr20:25190400-25200600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr20:25190400-25200800	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr20:25190400-25201000	Strong transcription	HMEC	breast
30	chr20:25190400-25201200	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr20:25190400-25201600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr20:25190400-25201800	Strong transcription	Adipose Nuclei	Adipose
33	chr20:25190400-25202000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr20:25190400-25202200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr20:25190400-25202200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr20:25190400-25202200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr20:25190400-25202200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr20:25190400-25202400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr20:25190400-25202400	Strong transcription	Primary T cells from cord blood	blood
40	chr20:25190400-25202400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr20:25190400-25202600	Strong transcription	Spleen	Spleen
42	chr20:25190400-25202800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr20:25190400-25202800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr20:25190400-25202800	Strong transcription	Brain Cingulate Gyrus	brain
45	chr20:25190400-25202800	Strong transcription	Placenta	Placenta
46	chr20:25190400-25203000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr20:25190400-25203000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr20:25190400-25203000	Strong transcription	Fetal Intestine Large	intestine
49	chr20:25190400-25203000	Strong transcription	NHLF	lung
50	chr20:25190400-25203200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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