Variant report

Variant	nsv585731
Chromosome Location	chr20:23989027-24024259
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:10)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:24009988..24011988-chr20:24013949..24015486,2	MCF-7	breast:
2	chr20:23996001..23998841-chr20:24002099..24004850,2	MCF-7	breast:
3	chr20:23996001..23998841-chr20:24002099..24004850,2	MCF-7	breast:
4	chr20:24015674..24019401-chr20:24025175..24027148,3	MCF-7	breast:
5	chr20:23993668..23995397-chr20:24015280..24016908,2	MCF-7	breast:
6	chr20:24001543..24003276-chr20:24005050..24007327,2	MCF-7	breast:
7	chr20:24021039..24022886-chr20:24031345..24033382,2	MCF-7	breast:
8	chr20:23993668..23995397-chr20:24015280..24016908,2	MCF-7	breast:
9	chr20:24001543..24003276-chr20:24005050..24007327,2	MCF-7	breast:
10	chr20:24009988..24011988-chr20:24013949..24015486,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GGTLC1-7	chr20:24022959-24023650	l_2094_chr20:24022958-24040525_kidney
2	lnc-SYNDIG1-4	chr20:24010292-24011949	XLOC_013495
3	lnc-SYNDIG1-4	chr20:24006344-24006652	XLOC_013495
4	lnc-SYNDIG1-4	chr20:24003973-24004010	XLOC_013495

No data

Extended variants
information (count: 1495 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1495 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3848798	chr20:23989027-23989028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528828492	chr20:23989036-23989037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150876125	chr20:23989078-23989079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534125070	chr20:23989110-23989111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184943540	chr20:23989143-23989144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571043365	chr20:23989157-23989158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540144670	chr20:23989174-23989175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548246143	chr20:23989208-23989209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112757235	chr20:23989251-23989252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75570550	chr20:23989265-23989266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150056510	chr20:23989266-23989267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572216552	chr20:23989273-23989274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540847979	chr20:23989317-23989318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564340866	chr20:23989318-23989319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577827349	chr20:23989357-23989358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147780896	chr20:23989375-23989376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562501311	chr20:23989396-23989397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6132687	chr20:23989436-23989437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6114406	chr20:23989438-23989439	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113454705	chr20:23989443-23989444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370157420	chr20:23989444-23989445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs5841019	chr20:23989445-23989446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs33969279	chr20:23989446-23989447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527818907	chr20:23989496-23989497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189457077	chr20:23989497-23989498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571044419	chr20:23989508-23989509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145154437	chr20:23989574-23989575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369782439	chr20:23989579-23989580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570406142	chr20:23989597-23989598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535442229	chr20:23989609-23989610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3843775	chr20:23989618-23989619	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs180886616	chr20:23989625-23989626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3843776	chr20:23989652-23989653	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs78843104	chr20:23989656-23989657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558306092	chr20:23989697-23989698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369252249	chr20:23989713-23989714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80078230	chr20:23989714-23989715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78107098	chr20:23989743-23989744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4633989	chr20:23989750-23989751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200343693	chr20:23989766-23989767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541804195	chr20:23989768-23989769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3843777	chr20:23989782-23989783	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527753966	chr20:23989783-23989784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552701974	chr20:23989813-23989814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547870133	chr20:23989816-23989817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183631613	chr20:23989817-23989818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541695440	chr20:23989846-23989847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533564411	chr20:23989863-23989864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147576409	chr20:23989896-23989897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6036606	chr20:23989902-23989903	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23983800-23991600	Weak transcription	Fetal Kidney	kidney
2	chr20:23984000-23989200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:23985800-23992000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:23989200-23990000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr20:23989400-23992200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr20:23989800-23990200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr20:23990200-23990600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr20:23990600-23992400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr20:23990800-23992400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr20:23991200-23991400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr20:23991600-23992200	Enhancers	Fetal Kidney	kidney
12	chr20:23992000-23992200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:23992000-23992200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr20:23992000-23992400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr20:23992200-23996800	Weak transcription	Fetal Kidney	kidney
16	chr20:23993000-23993800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr20:23993400-23993800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr20:23993800-23994800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr20:23994800-23995000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr20:23996800-23997400	Enhancers	Fetal Kidney	kidney
21	chr20:23997000-23997600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr20:23997200-23997400	Bivalent Enhancer	A549	lung
23	chr20:23997200-23997600	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr20:23997400-23998200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr20:23997400-23999200	Enhancers	HUVEC	blood vessel
26	chr20:23997600-24000000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr20:23997600-24000200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr20:23998000-24000000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr20:23998000-24000000	Enhancers	NHEK	skin
30	chr20:23998200-24000000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr20:23998200-24000000	Enhancers	HMEC	breast
32	chr20:23999000-24000000	Enhancers	HSMMtube	muscle
33	chr20:23999200-23999800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr20:23999400-23999600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr20:23999400-23999800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr20:23999400-24000000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr20:23999400-24000000	Bivalent Enhancer	Lung	lung
38	chr20:23999400-24000000	Enhancers	HSMM	muscle
39	chr20:24002400-24002600	Enhancers	Lung	lung
40	chr20:24002600-24003800	Enhancers	Brain Germinal Matrix	brain
41	chr20:24003800-24008000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr20:24005000-24005200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr20:24005200-24006200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr20:24005600-24006600	Weak transcription	Psoas Muscle	Psoas
45	chr20:24005600-24007400	Enhancers	Dnd41	blood
46	chr20:24005800-24008400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr20:24006000-24008000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr20:24006000-24008000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr20:24006000-24008200	Enhancers	Primary T cells from cord blood	blood
50	chr20:24006000-24008200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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