Variant report

Variant	nsv586280
Chromosome Location	chr20:52718555-52758416
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:460)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Distal block	Cell Line	Cell type
1	chr17:57969091..57971172-chr20:52719133..52720803,2	MCF-7	breast:
2	chr20:52747406..52750042-chr20:52765504..52767989,2	K562	blood:
3	chr20:52726943..52727461-chr20:52811544..52812616,3	MCF-7	breast:
4	chr17:56708147..56710305-chr20:52753949..52755804,2	MCF-7	breast:
5	chr12:88974229..88976516-chr20:52738104..52740254,2	MCF-7	breast:
6	chr20:52739578..52741059-chr20:52765012..52766367,586	MCF-7	breast:
7	chr20:52739970..52740788-chr20:52813545..52814111,2	MCF-7	breast:
8	chr20:52747087..52748781-chr20:58288479..58290443,2	MCF-7	breast:
9	chr20:52719607..52720196-chr20:53263139..53264090,2	K562	blood:
10	chr17:56735130..56736832-chr20:52745564..52747890,3	MCF-7	breast:
11	chr20:52726536..52727770-chr20:52765262..52766411,6	MCF-7	breast:
12	chr20:52738443..52741577-chr20:55839442..55842070,3	MCF-7	breast:
13	chr2:64245969..64248105-chr20:52734246..52737123,2	MCF-7	breast:
14	chr20:52720409..52720944-chr20:52765494..52766273,2	MCF-7	breast:
15	chr20:52740441..52742261-chr5:17072460..17075149,2	MCF-7	breast:
16	chr20:52719804..52720546-chr20:52738673..52740127,5	MCF-7	breast:
17	chr20:46294406..46296720-chr20:52718393..52720596,2	MCF-7	breast:
18	chr20:52715770..52716775-chr20:52743482..52744348,3	MCF-7	breast:
19	chr20:52720353..52721343-chr20:52765343..52766302,5	MCF-7	breast:
20	chr18:33161152..33162957-chr20:52728933..52730524,2	MCF-7	breast:
21	chr20:52718501..52719345-chr20:52743465..52744028,2	MCF-7	breast:
22	chr20:52718473..52720185-chr20:52811223..52812490,9	MCF-7	breast:
23	chr12:52636521..52638723-chr20:52748359..52750383,2	MCF-7	breast:
24	chr20:52724187..52724972-chr20:52765344..52766235,2	MCF-7	breast:
25	chr20:52739968..52740956-chr20:52885332..52886103,2	MCF-7	breast:
26	chr20:52724144..52724969-chr20:52740147..52740907,3	MCF-7	breast:
27	chr20:52719936..52720994-chr20:52815851..52816435,3	K562	blood:
28	chr20:52739918..52740584-chr7:157065355..157066152,2	MCF-7	breast:
29	chr20:52403779..52405878-chr20:52738578..52741634,3	MCF-7	breast:
30	chr20:52739897..52740786-chr20:52885429..52886265,2	MCF-7	breast:
31	chr20:52732059..52732575-chr20:52749314..52750086,2	MCF-7	breast:
32	chr20:52743247..52744381-chr20:52765148..52766346,109	MCF-7	breast:
33	chr20:52720469..52721057-chr20:52743691..52744274,2	MCF-7	breast:
34	chr20:52727982..52730137-chr3:49057411..49059672,2	MCF-7	breast:
35	chr12:53344317..53347285-chr20:52748753..52751041,2	MCF-7	breast:
36	chr20:52738710..52740983-chr7:114958674..114960527,2	MCF-7	breast:
37	chr20:52740095..52740996-chr20:53072761..53073363,2	MCF-7	breast:
38	chr20:52715909..52718774-chr20:55838311..55841163,2	MCF-7	breast:
39	chr1:245026299..245028273-chr20:52735663..52737361,2	MCF-7	breast:
40	chr20:52726556..52727510-chr20:52739991..52741022,4	MCF-7	breast:
41	chr20:46415094..46415857-chr20:52719914..52720888,3	MCF-7	breast:
42	chr17:57921552..57924477-chr20:52726463..52728526,2	MCF-7	breast:
43	chr20:49380508..49381298-chr20:52740109..52741057,2	MCF-7	breast:
44	chr20:52740380..52740956-chr20:52885457..52886103,2	MCF-7	breast:
45	chr20:52278394..52278897-chr20:52740216..52740716,2	MCF-7	breast:
46	chr17:59475016..59476729-chr20:52744400..52746392,3	MCF-7	breast:
47	chr20:52719730..52720372-chr20:52809181..52810139,2	MCF-7	breast:
48	chr20:52746471..52748529-chr20:52930718..52933120,2	MCF-7	breast:
49	chr2:8988529..8990034-chr20:52733705..52735797,2	MCF-7	breast:
50	chr17:56716650..56717730-chr20:52739726..52740924,66	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226308	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000172239	chromatin interactions
ENSG00000101132	chromatin interactions
ENSG00000207947	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000261423	chromatin interactions
ENSG00000165417	chromatin interactions
ENSG00000138381	chromatin interactions
ENSG00000270820	chromatin interactions
ENSG00000252850	chromatin interactions
ENSG00000069956	chromatin interactions
ENSG00000259438	chromatin interactions
ENSG00000207605	chromatin interactions
ENSG00000153187	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000111057	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000215271	chromatin interactions
ENSG00000267104	chromatin interactions
ENSG00000171345	chromatin interactions
ENSG00000136938	chromatin interactions
ENSG00000196562	chromatin interactions
ENSG00000199032	chromatin interactions
ENSG00000224738	chromatin interactions
ENSG00000189079	chromatin interactions
ENSG00000135480	chromatin interactions
ENSG00000124198	chromatin interactions
ENSG00000225410	chromatin interactions
ENSG00000267637	chromatin interactions
ENSG00000141429	chromatin interactions
ENSG00000266826	chromatin interactions
ENSG00000200997	chromatin interactions
ENSG00000171223	chromatin interactions
ENSG00000108395	chromatin interactions
ENSG00000140455	chromatin interactions
ENSG00000130164	chromatin interactions
ENSG00000273175	chromatin interactions
ENSG00000235415	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000206588	chromatin interactions
ENSG00000009307	chromatin interactions
ENSG00000034677	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000115464	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000244564	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000265039	chromatin interactions
ENSG00000121101	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000121075	chromatin interactions
ENSG00000124126	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000163637	chromatin interactions
ENSG00000176845	chromatin interactions
ENSG00000237423	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000268745	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000185650	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000173838	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000075975	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000064787	chromatin interactions
ENSG00000006025	chromatin interactions
ENSG00000240006	chromatin interactions
ENSG00000143952	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000160326	chromatin interactions
ENSG00000108384	chromatin interactions
ENSG00000133612	chromatin interactions
ENSG00000261040	chromatin interactions
ENSG00000049130	chromatin interactions

Extended variants
information (count: 1596 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1596 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8123293	chr20:52718555-52718556	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530521275	chr20:52718564-52718565	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs550430512	chr20:52718565-52718566	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs149422343	chr20:52718611-52718612	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs116010948	chr20:52718660-52718661	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs547193070	chr20:52718682-52718683	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs567023892	chr20:52718728-52718729	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs539348708	chr20:52718770-52718771	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs11907762	chr20:52718789-52718790	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs116361010	chr20:52718809-52718810	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs373535856	chr20:52718827-52718828	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs6068786	chr20:52718836-52718837	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs369738521	chr20:52718884-52718885	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs538216868	chr20:52718939-52718940	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs139821210	chr20:52718951-52718952	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs6013891	chr20:52718966-52718967	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs111870115	chr20:52718992-52718993	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs10718242	chr20:52718998-52718999	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs530468832	chr20:52719024-52719025	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs558130353	chr20:52719090-52719091	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs576911705	chr20:52719138-52719139	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs368687384	chr20:52719189-52719190	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs572662957	chr20:52719234-52719235	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs371425940	chr20:52719236-52719237	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs112591346	chr20:52719248-52719249	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs185495700	chr20:52719250-52719251	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs113361245	chr20:52719278-52719279	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs140867466	chr20:52719346-52719347	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs529798778	chr20:52719348-52719349	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs144153871	chr20:52719373-52719374	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs188792797	chr20:52719377-52719378	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs142157355	chr20:52719461-52719462	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs532750354	chr20:52719537-52719538	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs552934003	chr20:52719564-52719565	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs569519022	chr20:52719659-52719660	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs59132978	chr20:52719699-52719700	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs376232705	chr20:52719747-52719748	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs567239803	chr20:52719759-52719760	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs554972104	chr20:52719774-52719775	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs368583007	chr20:52719789-52719790	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs534312195	chr20:52719807-52719808	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs553842977	chr20:52719889-52719890	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs529699519	chr20:52719921-52719922	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs151186338	chr20:52719929-52719930	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs541532019	chr20:52719983-52719984	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs561933508	chr20:52720008-52720009	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs530579713	chr20:52720019-52720020	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs369718488	chr20:52720075-52720076	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs373093797	chr20:52720089-52720090	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs575513373	chr20:52720143-52720144	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myelodysplastic syndrome	21251322	CNVD
Ductal carcinoma	22052326	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Ovarian cancer	22174824	CNVD
Lung cancer	16740712	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16620391	CNVD
Okamoto syndrome	17623483	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cervical cancer	16585170	CNVD
Ovarian cancer	20844748	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20459607	CNVD
Gastric cancer	18160780	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52714000-52721200	Weak transcription	HMEC	breast
2	chr20:52714000-52721800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:52715800-52719800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr20:52717800-52719200	Enhancers	A549	lung
5	chr20:52718000-52720200	Enhancers	Placenta	Placenta
6	chr20:52718400-52719800	Enhancers	HepG2	liver
7	chr20:52718600-52718800	Enhancers	NHEK	skin
8	chr20:52718800-52721200	Weak transcription	NHEK	skin
9	chr20:52719000-52719200	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr20:52719000-52723800	Enhancers	Liver	Liver
11	chr20:52719200-52719400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr20:52719200-52719600	Genic enhancers	A549	lung
13	chr20:52719200-52720400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr20:52719400-52724000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr20:52719600-52721800	Enhancers	A549	lung
16	chr20:52719800-52720200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr20:52719800-52720400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr20:52719800-52720400	Enhancers	Osteobl	bone
19	chr20:52719800-52721200	Enhancers	Fetal Intestine Large	intestine
20	chr20:52719800-52721200	Flanking Active TSS	HepG2	liver
21	chr20:52720000-52720200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr20:52720000-52720400	Enhancers	Esophagus	oesophagus
23	chr20:52720000-52720400	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr20:52720000-52721200	Enhancers	Duodenum Mucosa	Duodenum
25	chr20:52720000-52724200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr20:52720200-52726600	Weak transcription	Placenta	Placenta
27	chr20:52720400-52720600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr20:52720400-52720800	Weak transcription	Esophagus	oesophagus
29	chr20:52720400-52720800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr20:52720400-52721200	Enhancers	Colonic Mucosa	Colon
31	chr20:52720400-52721400	Enhancers	Fetal Intestine Small	intestine
32	chr20:52720600-52721200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr20:52720600-52722000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr20:52720600-52722000	Enhancers	Colon Smooth Muscle	Colon
35	chr20:52720800-52721000	Enhancers	Esophagus	oesophagus
36	chr20:52721000-52724200	Weak transcription	Esophagus	oesophagus
37	chr20:52721200-52723600	Enhancers	HepG2	liver
38	chr20:52721200-52724200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr20:52721200-52724200	Weak transcription	Fetal Intestine Large	intestine
40	chr20:52721200-52724200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr20:52721200-52724800	Enhancers	HMEC	breast
42	chr20:52721200-52725000	Enhancers	NHEK	skin
43	chr20:52721400-52723800	Weak transcription	Fetal Intestine Small	intestine
44	chr20:52721600-52725000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr20:52721800-52722000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr20:52721800-52722200	Flanking Active TSS	A549	lung
47	chr20:52721800-52724800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr20:52721800-52725000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr20:52721800-52725200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr20:52722000-52722400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links