Variant report

Variant	esv3365788
Chromosome Location	chr20:1438171-1438513
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	chr20:1438235-1440046	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:1192869..1195344-chr20:1438195..1439984,2	K562	blood:
2	chr20:1436244..1441221-chr20:1444525..1448562,4	MCF-7	breast:
3	chr20:1193844..1196464-chr20:1438484..1440778,2	K562	blood:
4	chr20:1437321..1440209-chr20:1445376..1448458,3	MCF-7	breast:

Variant related genes	Relation type
NSFL1C	TF binding region
ENSG00000088833	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34641308	chr20:1438199-1438200	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs4546067	chr20:1438230-1438231	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs181866064	chr20:1438250-1438251	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543038134	chr20:1438271-1438272	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs144669823	chr20:1438299-1438300	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs138410135	chr20:1438314-1438315	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs540823623	chr20:1438367-1438368	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs559496120	chr20:1438383-1438384	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs149246837	chr20:1438393-1438394	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs529577602	chr20:1438410-1438411	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs542131865	chr20:1438415-1438416	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs563603828	chr20:1438417-1438418	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs576764424	chr20:1438428-1438429	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs184865732	chr20:1438443-1438444	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs189573316	chr20:1438479-1438480	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1419200-1443400	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr20:1419600-1442000	Strong transcription	Skeletal Muscle Male	skeletal muscle
3	chr20:1419800-1443600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr20:1420200-1444000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr20:1420200-1445600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr20:1420400-1443600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr20:1420400-1444600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr20:1420400-1444800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr20:1420400-1445800	Strong transcription	A549	lung
10	chr20:1420600-1444800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr20:1421200-1444400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:1421400-1445200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr20:1421400-1446000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:1421600-1444200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr20:1421600-1445800	Strong transcription	Placenta	Placenta
16	chr20:1421800-1439400	Strong transcription	HMEC	breast
17	chr20:1421800-1442600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr20:1421800-1445800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr20:1422000-1444800	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr20:1422400-1440000	Strong transcription	GM12878-XiMat	blood
21	chr20:1422400-1442400	Strong transcription	Colonic Mucosa	Colon
22	chr20:1422400-1442600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr20:1422400-1444800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr20:1422600-1441600	Strong transcription	NHDF-Ad	bronchial
25	chr20:1422600-1442000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr20:1422600-1444200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr20:1422800-1442800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr20:1422800-1444800	Strong transcription	HUVEC	blood vessel
29	chr20:1423000-1443800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr20:1423200-1444600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr20:1423400-1441800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
32	chr20:1424200-1441400	Strong transcription	Colon Smooth Muscle	Colon
33	chr20:1428800-1439600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr20:1428800-1440600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
35	chr20:1429200-1442000	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr20:1431000-1439800	Strong transcription	K562	blood
37	chr20:1431600-1446400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr20:1432400-1444000	Strong transcription	Left Ventricle	heart
39	chr20:1432400-1444400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr20:1432600-1442200	Strong transcription	HepG2	liver
41	chr20:1432600-1443000	Strong transcription	Fetal Thymus	thymus
42	chr20:1432600-1443400	Strong transcription	Primary B cells from peripheral blood	blood
43	chr20:1432600-1443800	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr20:1432600-1444400	Strong transcription	Lung	lung
45	chr20:1432600-1445000	Strong transcription	Liver	Liver
46	chr20:1432800-1439000	Strong transcription	Fetal Brain Male	brain
47	chr20:1432800-1442400	Strong transcription	Adipose Nuclei	Adipose
48	chr20:1432800-1444000	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr20:1432800-1444600	Strong transcription	Primary T cells from cord blood	blood
50	chr20:1432800-1445800	Strong transcription	Fetal Intestine Large	intestine

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