Variant report

Variant	nsv912889
Chromosome Location	chr20:41609188-41666379
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:41637939..41639575-chr20:41640283..41642711,2	MCF-7	breast:
2	chr20:41652252..41654043-chr20:41657650..41660431,2	K562	blood:
3	chr20:41652021..41653752-chr20:41657650..41660370,2	K562	blood:
4	chr20:41659308..41661775-chr20:41665060..41666705,2	K562	blood:
5	chr20:41652021..41653752-chr20:41657650..41660370,2	K562	blood:
6	chr20:41659308..41661775-chr20:41665060..41666705,2	K562	blood:
7	chr20:41652252..41654043-chr20:41657650..41660431,2	K562	blood:
8	chr20:41637939..41639575-chr20:41640283..41642711,2	MCF-7	breast:

No data

Extended variants
information (count: 1943 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1943 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2867591	chr20:41609188-41609189	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6072920	chr20:41609193-41609194	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs180701757	chr20:41609212-41609213	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs565612560	chr20:41609229-41609230	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs570570916	chr20:41609274-41609275	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs183784227	chr20:41609314-41609315	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs143117288	chr20:41609322-41609323	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs188562471	chr20:41609339-41609340	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs181328135	chr20:41609341-41609342	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs541020255	chr20:41609369-41609370	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs554568425	chr20:41609429-41609430	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs574774641	chr20:41609501-41609502	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs77004037	chr20:41609540-41609541	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs150442283	chr20:41609560-41609561	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs577367318	chr20:41609584-41609585	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs62204033	chr20:41609585-41609586	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs545842803	chr20:41609587-41609588	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs138267706	chr20:41609594-41609595	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs528242939	chr20:41609613-41609614	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs149623870	chr20:41609700-41609701	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs2867592	chr20:41609712-41609713	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs186692924	chr20:41609763-41609764	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs144379426	chr20:41609765-41609766	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs191572349	chr20:41609776-41609777	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs76251612	chr20:41609819-41609820	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs529757069	chr20:41609847-41609848	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs74801521	chr20:41609922-41609923	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs533644039	chr20:41609985-41609986	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs539268124	chr20:41609992-41609993	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs6030574	chr20:41609995-41609996	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs6016930	chr20:41609999-41610000	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs11696450	chr20:41610007-41610008	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6030575	chr20:41610100-41610101	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182155663	chr20:41610117-41610118	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534823695	chr20:41610149-41610150	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6030576	chr20:41610247-41610248	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141494999	chr20:41610306-41610307	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574512978	chr20:41610324-41610325	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575024512	chr20:41610355-41610356	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78195792	chr20:41610360-41610361	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6030577	chr20:41610383-41610384	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs577506520	chr20:41610390-41610391	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139142791	chr20:41610391-41610392	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559924715	chr20:41610424-41610425	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572960137	chr20:41610452-41610453	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6072921	chr20:41610454-41610455	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541962581	chr20:41610458-41610459	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142557410	chr20:41610467-41610468	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530524826	chr20:41610482-41610483	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368997585	chr20:41610626-41610627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	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
Soft tissue tumor	16732325	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
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Cervical cancer	16585170	CNVD
Developmental delay	21373258	CNVD
Breast cancer	21806811	CNVD
Mental retardation	17901693	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41607400-41609800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr20:41607400-41609800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr20:41607600-41609400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr20:41608000-41609600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr20:41608000-41610200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr20:41608200-41610000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr20:41608600-41609200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr20:41608800-41609200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr20:41608800-41609200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr20:41608800-41609200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr20:41608800-41609600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr20:41608800-41609800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr20:41609000-41609200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr20:41609000-41609600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:41609000-41609600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr20:41609200-41609400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr20:41609200-41609400	Bivalent Enhancer	Fetal Brain Male	brain
18	chr20:41609200-41610000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr20:41609200-41610000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr20:41609200-41610200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr20:41609200-41610200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr20:41609400-41610200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr20:41609400-41612000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr20:41609600-41610200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr20:41609600-41611800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr20:41609800-41610000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr20:41609800-41610200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr20:41609800-41612400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr20:41610000-41610200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
30	chr20:41610000-41610200	Enhancers	Gastric	stomach
31	chr20:41610000-41610400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr20:41610000-41610400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr20:41610200-41610600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr20:41610200-41611800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr20:41610200-41619000	Weak transcription	Gastric	stomach
36	chr20:41610400-41611200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr20:41610400-41611400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr20:41611200-41614800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr20:41611400-41611600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr20:41611400-41611800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr20:41611400-41611800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr20:41611400-41612200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr20:41611400-41612200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr20:41611400-41612400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr20:41611400-41612400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr20:41611800-41612000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr20:41611800-41612200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr20:41611800-41612400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr20:41612000-41612200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr20:41614400-41615200	Enhancers	Spleen	Spleen

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