Variant report

Variant	nsv437185
Chromosome Location	chr20:52300359-52330053
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:70)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr20:52195438..52195946-chr20:52307913..52308485,2	MCF-7	breast:
2	chr20:52309522..52310475-chr20:52556126..52556882,2	MCF-7	breast:
3	chr20:52327522..52328088-chr20:52402420..52403231,2	MCF-7	breast:
4	chr20:52304390..52307207-chr3:119040892..119043162,2	MCF-7	breast:
5	chr17:56734892..56737825-chr20:52328650..52331819,3	MCF-7	breast:
6	chr20:52323357..52326317-chr20:55802474..55805033,2	MCF-7	breast:
7	chr1:149222759..149224260-chr20:52302981..52304779,2	MCF-7	breast:
8	chr20:52324037..52324585-chr8:127396031..127396531,2	MCF-7	breast:
9	chr20:52323241..52324199-chr3:64320041..64320971,2	MCF-7	breast:
10	chr20:52327570..52329244-chr7:156255388..156257052,2	MCF-7	breast:
11	chr20:52228019..52229603-chr20:52306095..52308452,2	K562	blood:
12	chr20:52327475..52328089-chr20:52341410..52342264,2	MCF-7	breast:
13	chr20:52308200..52309884-chr20:55825666..55827903,2	MCF-7	breast:
14	chr20:52194937..52195494-chr20:52309137..52309804,2	MCF-7	breast:
15	chr14:69260613..69262497-chr20:52311916..52313959,2	MCF-7	breast:
16	chr20:52306558..52308281-chr20:55848307..55850498,2	MCF-7	breast:
17	chr20:52195938..52196885-chr20:52306721..52307713,2	MCF-7	breast:
18	chr2:11670272..11672993-chr20:52308680..52310728,2	MCF-7	breast:
19	chr17:57923186..57924768-chr20:52300260..52302785,2	MCF-7	breast:
20	chr20:52301128..52304461-chr20:52354219..52358396,5	K562	blood:
21	chr20:52300312..52300812-chr3:87588757..87589338,2	MCF-7	breast:
22	chr20:52314309..52316866-chr20:52352665..52355396,2	K562	blood:
23	chr17:56707927..56710808-chr20:52300951..52304880,3	MCF-7	breast:
24	chr20:52292608..52296429-chr20:52329359..52332532,3	K562	blood:
25	chr20:52322599..52324679-chr20:52324906..52327941,3	K562	blood:
26	chr20:52309398..52311832-chr20:52327074..52329815,2	K562	blood:
27	chr20:52318307..52319054-chr3:42853994..42854583,2	MCF-7	breast:
28	chr1:152430033..152432133-chr20:52323430..52325035,2	MCF-7	breast:
29	chr20:52307812..52309721-chr3:63849166..63851714,2	MCF-7	breast:
30	chr20:47538326..47539861-chr20:52328073..52331013,2	MCF-7	breast:
31	chr17:56735041..56736907-chr20:52311240..52314004,2	MCF-7	breast:
32	chr17:57919913..57922639-chr20:52328479..52331084,2	MCF-7	breast:
33	chr19:33666280..33667890-chr20:52306739..52308440,2	MCF-7	breast:
34	chr17:56708809..56710883-chr20:52313597..52315245,2	MCF-7	breast:
35	chr1:201975961..201978820-chr20:52302620..52304972,2	MCF-7	breast:
36	chr20:52308187..52308718-chr20:52402442..52403401,2	MCF-7	breast:
37	chr17:57915029..57917708-chr20:52325627..52328228,2	MCF-7	breast:
38	chr11:65190043..65192539-chr20:52329283..52331971,3	MCF-7	breast:
39	chr20:45947657..45949447-chr20:52300558..52302444,2	MCF-7	breast:
40	chr20:46380769..46382731-chr20:52303273..52305582,2	MCF-7	breast:
41	chr20:52278079..52279035-chr20:52327271..52328369,9	MCF-7	breast:
42	chr17:59482922..59485740-chr20:52327701..52330610,2	MCF-7	breast:
43	chr20:52304131..52305727-chr20:55839654..55841728,2	MCF-7	breast:
44	chr20:52324508..52325293-chr5:177018716..177019409,2	MCF-7	breast:
45	chr19:50831023..50833009-chr20:52308051..52309841,2	MCF-7	breast:
46	chr20:52296496..52297267-chr20:52307610..52308510,2	MCF-7	breast:
47	chr19:58330491..58331019-chr20:52311098..52311619,2	HCT-116	colon:
48	chr20:52322599..52324679-chr20:52324906..52327941,3	K562	blood:
49	chr20:52327738..52329665-chr20:55839158..55840882,2	MCF-7	breast:
50	chr20:52317608..52320469-chr20:55840322..55841907,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSHZ2-10	chr20:52311844-52313139	NONHSAT080400

No data

Variant related genes	Relation type
ENSG00000184678	chromatin interactions
ENSG00000124198	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000163435	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000270066	chromatin interactions
ENSG00000131398	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000184840	chromatin interactions
ENSG00000236352	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000185650	chromatin interactions
ENSG00000131408	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000241155	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000163635	chromatin interactions

Extended variants
information (count: 1264 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1264 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6126919	chr20:52300359-52300360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183703317	chr20:52300409-52300410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372329203	chr20:52300475-52300476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113762886	chr20:52300501-52300502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386394025	chr20:52300514-52300515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563559643	chr20:52300521-52300522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529372213	chr20:52300525-52300526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549171695	chr20:52300532-52300533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566184747	chr20:52300592-52300593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533652513	chr20:52300606-52300607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547044243	chr20:52300608-52300609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376905103	chr20:52300612-52300613	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567145099	chr20:52300623-52300624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs9679909	chr20:52300641-52300642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369093159	chr20:52300654-52300655	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs113256884	chr20:52300683-52300684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187699456	chr20:52300688-52300689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs190996163	chr20:52300695-52300696	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs182186671	chr20:52300698-52300699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373297652	chr20:52300702-52300703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555123313	chr20:52300719-52300720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs6091727	chr20:52300732-52300733	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs541219508	chr20:52300733-52300734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557978589	chr20:52300787-52300788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111528105	chr20:52300792-52300793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs543739090	chr20:52300827-52300828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186791536	chr20:52300897-52300898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs13043156	chr20:52300905-52300906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs192548623	chr20:52300910-52300911	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6091728	chr20:52300912-52300913	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs61151832	chr20:52300934-52300935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543008119	chr20:52301019-52301020	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs184887562	chr20:52301047-52301048	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs188249127	chr20:52301048-52301049	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs547609046	chr20:52301063-52301064	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs564300734	chr20:52301064-52301065	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs533179200	chr20:52301065-52301066	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs193084515	chr20:52301098-52301099	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs199576598	chr20:52301159-52301160	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs540266860	chr20:52301160-52301161	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs569936217	chr20:52301177-52301178	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs117877521	chr20:52301181-52301182	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs71337339	chr20:52301185-52301186	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs564828350	chr20:52301187-52301188	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs368146905	chr20:52301188-52301189	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs72279896	chr20:52301197-52301198	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs34481787	chr20:52301200-52301201	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs34031597	chr20:52301267-52301268	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs555069006	chr20:52301284-52301285	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs577780281	chr20:52301315-52301316	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Colorectal cancer	16774939	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:632 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52295400-52302200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr20:52296600-52301800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr20:52296800-52301400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr20:52296800-52301400	Weak transcription	K562	blood
5	chr20:52296800-52301800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr20:52296800-52301800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr20:52296800-52302200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr20:52297000-52301600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr20:52297000-52301800	Weak transcription	Primary T cells from cord blood	blood
10	chr20:52297000-52301800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr20:52297000-52301800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr20:52297400-52301600	Weak transcription	Thymus	Thymus
13	chr20:52297400-52301600	Weak transcription	Dnd41	blood
14	chr20:52297600-52302200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr20:52297600-52305400	Weak transcription	A549	lung
16	chr20:52298800-52301800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr20:52298800-52305400	Weak transcription	HepG2	liver
18	chr20:52299000-52301600	Weak transcription	GM12878-XiMat	blood
19	chr20:52299000-52302400	Weak transcription	Primary B cells from cord blood	blood
20	chr20:52299200-52302400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr20:52299400-52301400	Weak transcription	Fetal Thymus	thymus
22	chr20:52299600-52302400	Weak transcription	Placenta	Placenta
23	chr20:52301400-52302800	Enhancers	K562	blood
24	chr20:52301400-52303400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr20:52301400-52303400	Enhancers	Fetal Thymus	thymus
26	chr20:52301600-52302800	Enhancers	Thymus	Thymus
27	chr20:52301600-52303000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr20:52301600-52303000	Enhancers	GM12878-XiMat	blood
29	chr20:52301600-52303400	Enhancers	Dnd41	blood
30	chr20:52301800-52303000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr20:52301800-52303000	Enhancers	Primary T cells from cord blood	blood
32	chr20:52301800-52303000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr20:52301800-52303000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr20:52301800-52303000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr20:52301800-52303000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr20:52301800-52303000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr20:52301800-52303400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr20:52302000-52303000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr20:52302000-52303000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr20:52302200-52302800	Enhancers	Primary hematopoietic stem cells	blood
41	chr20:52302200-52303000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr20:52302200-52303000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr20:52302400-52302800	Enhancers	Primary B cells from cord blood	blood
44	chr20:52302400-52303000	Enhancers	Primary B cells from peripheral blood	blood
45	chr20:52302400-52303000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr20:52302400-52303000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr20:52302400-52303000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr20:52302400-52303200	Enhancers	Placenta	Placenta
49	chr20:52302600-52303000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr20:52303000-52304000	Weak transcription	GM12878-XiMat	blood

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