Variant report

Variant	esv14953
Chromosome Location	chr20:13233949-13336340
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:13325563..13328310-chr20:13332804..13334658,2	K562	blood:
2	chr20:13305433..13306398-chr20:13526637..13527817,4	MCF-7	breast:
3	chr20:13293842..13296817-chr20:13312526..13314549,2	K562	blood:
4	chr20:13099834..13100573-chr20:13242429..13243331,4	MCF-7	breast:
5	chr20:13186346..13187286-chr20:13242328..13243323,3	MCF-7	breast:
6	chr20:13300108..13302857-chr20:13304217..13306558,2	MCF-7	breast:
7	chr20:13330858..13331683-chr6:30098592..30099414,2	MCF-7	breast:
8	chr20:13102577..13104430-chr20:13278483..13280151,2	MCF-7	breast:
9	chr20:13305737..13306312-chr20:13526618..13527354,2	K562	blood:
10	chr20:13099915..13100786-chr20:13283022..13283937,3	MCF-7	breast:
11	chr20:13281049..13283479-chr20:13288653..13290792,2	MCF-7	breast:
12	chr20:13225351..13227078-chr20:13232726..13234413,2	MCF-7	breast:
13	chr20:13099895..13100678-chr20:13283242..13284334,3	MCF-7	breast:
14	chr20:13305771..13306616-chr20:13439402..13440096,2	K562	blood:
15	chr20:13099864..13101163-chr20:13242113..13243382,13	MCF-7	breast:
16	chr20:13279959..13281741-chr20:13285750..13288424,2	K562	blood:
17	chr20:13316813..13318984-chr20:13324868..13327677,2	MCF-7	breast:
18	chr20:13296564..13298740-chr20:13303528..13306160,2	MCF-7	breast:
19	chr20:13305344..13306280-chr20:13527310..13528173,2	MCF-7	breast:
20	chr20:13316813..13318984-chr20:13324868..13327677,2	MCF-7	breast:
21	chr20:13186534..13187312-chr20:13283028..13283706,3	MCF-7	breast:
22	chr20:13294043..13294675-chr9:134731164..134732018,2	MCF-7	breast:
23	chr20:13300108..13302857-chr20:13304217..13306558,2	MCF-7	breast:
24	chr20:13293842..13296817-chr20:13312526..13314549,2	K562	blood:
25	chr20:13278576..13280207-chr20:13285349..13287405,2	MCF-7	breast:
26	chr20:13298397..13300757-chr20:13300815..13303338,2	MCF-7	breast:
27	chr20:13323282..13325275-chr20:13975925..13977539,2	MCF-7	breast:
28	chr20:12950635..12951321-chr20:13242468..13243223,2	MCF-7	breast:
29	chr20:13296564..13298740-chr20:13303528..13306160,2	MCF-7	breast:
30	chr20:13281049..13283479-chr20:13288653..13290792,2	MCF-7	breast:
31	chr20:13279959..13281741-chr20:13285750..13288424,2	K562	blood:
32	chr20:13186665..13187313-chr20:13282994..13283540,2	MCF-7	breast:
33	chr20:13278576..13280207-chr20:13285349..13287405,2	MCF-7	breast:
34	chr20:13325563..13328310-chr20:13332804..13334658,2	K562	blood:
35	chr20:13298397..13300757-chr20:13300815..13303338,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101251	chromatin interactions
ENSG00000225956	chromatin interactions
ENSG00000172264	chromatin interactions

Extended variants
information (count: 3954 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:3954 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561124526	chr20:13233970-13233971	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs33928121	chr20:13233993-13233994	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs56125116	chr20:13233998-13233999	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs76710995	chr20:13234013-13234014	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs187952979	chr20:13234016-13234017	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569516362	chr20:13234019-13234020	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs6105058	chr20:13234028-13234029	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs75521221	chr20:13234073-13234074	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565998707	chr20:13234080-13234081	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs6109782	chr20:13234085-13234086	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs8116153	chr20:13234124-13234125	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574340598	chr20:13234125-13234126	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544421262	chr20:13234146-13234147	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143574188	chr20:13234159-13234160	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557065125	chr20:13234164-13234165	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576727254	chr20:13234231-13234232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545652483	chr20:13234240-13234241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373546161	chr20:13234257-13234258	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs151003568	chr20:13234368-13234369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112894008	chr20:13234385-13234386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572747561	chr20:13234388-13234389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541354364	chr20:13234407-13234408	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs561346676	chr20:13234437-13234438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140903204	chr20:13234440-13234441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73261074	chr20:13234446-13234447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563406028	chr20:13234465-13234466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191141414	chr20:13234467-13234468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs33986364	chr20:13234490-13234491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35362501	chr20:13234493-13234494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546741165	chr20:13234509-13234510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551980090	chr20:13234510-13234511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs66486316	chr20:13234521-13234522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149176187	chr20:13234522-13234523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565732639	chr20:13234524-13234525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200651782	chr20:13234526-13234527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6041973	chr20:13234540-13234541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548145327	chr20:13234630-13234631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377248478	chr20:13234636-13234637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184736565	chr20:13234639-13234640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566356550	chr20:13234704-13234705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562702549	chr20:13234706-13234707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148254699	chr20:13234725-13234726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34371292	chr20:13234726-13234727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553062620	chr20:13234728-13234729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34346479	chr20:13234729-13234730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6134836	chr20:13234767-13234768	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs138514983	chr20:13234834-13234835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539538173	chr20:13234846-13234847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs71311142	chr20:13234875-13234876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145810710	chr20:13234881-13234882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
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
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Autism	22102821	CNVD
Cancer	20164919	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:921 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13218800-13243200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:13229800-13234200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr20:13230200-13280200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr20:13230400-13235200	Weak transcription	Lung	lung
5	chr20:13230400-13243800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr20:13231000-13242200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr20:13231200-13234000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr20:13231200-13242800	Weak transcription	Dnd41	blood
9	chr20:13231400-13238800	Weak transcription	Pancreas	Pancrea
10	chr20:13232600-13234000	Enhancers	HepG2	liver
11	chr20:13233000-13234200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr20:13233200-13235600	Enhancers	Fetal Thymus	thymus
13	chr20:13233400-13234400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr20:13233400-13234400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr20:13233400-13234600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr20:13233600-13234200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr20:13233600-13234200	Enhancers	Primary T cells from cord blood	blood
18	chr20:13233600-13234400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr20:13233600-13234400	Enhancers	Thymus	Thymus
20	chr20:13233800-13234000	Enhancers	Placenta	Placenta
21	chr20:13233800-13234200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr20:13233800-13234400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr20:13233800-13234400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr20:13234000-13234200	Weak transcription	HepG2	liver
25	chr20:13234000-13236000	Weak transcription	Placenta	Placenta
26	chr20:13234200-13235200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr20:13234200-13235200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr20:13234200-13242800	Weak transcription	Primary T cells from cord blood	blood
29	chr20:13234400-13235400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr20:13234400-13240600	Weak transcription	Thymus	Thymus
31	chr20:13234400-13242400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr20:13234600-13235000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr20:13235000-13235600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr20:13235200-13235400	Enhancers	Lung	lung
35	chr20:13235200-13235600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr20:13235400-13235600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr20:13235400-13235600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr20:13235400-13242400	Weak transcription	Lung	lung
39	chr20:13235600-13237600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr20:13235600-13238600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr20:13235600-13240600	Weak transcription	Fetal Thymus	thymus
42	chr20:13235600-13243800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr20:13237600-13239000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr20:13238800-13239000	Enhancers	Pancreas	Pancrea
45	chr20:13239000-13239600	Weak transcription	Pancreas	Pancrea
46	chr20:13239000-13240600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr20:13239600-13239800	Enhancers	Pancreas	Pancrea
48	chr20:13239800-13240400	Weak transcription	Pancreas	Pancrea
49	chr20:13240000-13243200	Weak transcription	Fetal Lung	lung
50	chr20:13240400-13240600	Enhancers	Pancreas	Pancrea

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