Variant report

Variant	nsv979417
Chromosome Location	chr20:23643043-23651277
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23649611..23652412-chr20:23660454..23663208,2	MCF-7	breast:
2	chr20:23649188..23649689-chr20:23762769..23763504,2	MCF-7	breast:
3	chr20:23645187..23645712-chr20:23775888..23776677,2	MCF-7	breast:
4	chr20:23648665..23649293-chr20:23837547..23838405,2	MCF-7	breast:
5	chr20:23648842..23649774-chr20:23870335..23871266,4	MCF-7	breast:
6	chr20:23648920..23650143-chr20:23704363..23705222,5	MCF-7	breast:
7	chr20:23648767..23649721-chr20:23779902..23780425,2	MCF-7	breast:
8	chr20:23648334..23649447-chr20:23704109..23705001,3	MCF-7	breast:
9	chr20:23648954..23649672-chr20:23703387..23704074,2	MCF-7	breast:

No data

Extended variants
information (count: 388 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139035625	chr20:23643061-23643062	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs531293901	chr20:23643086-23643087	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs34703610	chr20:23643102-23643103	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs199607164	chr20:23643116-23643117	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs369649262	chr20:23643120-23643121	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs373564950	chr20:23643121-23643122	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs548225559	chr20:23643173-23643174	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs533965475	chr20:23643185-23643186	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs143063476	chr20:23643192-23643193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs192215740	chr20:23643204-23643205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143717378	chr20:23643232-23643233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571071486	chr20:23643242-23643243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539648631	chr20:23643259-23643260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556197506	chr20:23643267-23643268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576141352	chr20:23643292-23643293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535428075	chr20:23643344-23643345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555368418	chr20:23643364-23643365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116186133	chr20:23643372-23643373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540563370	chr20:23643374-23643375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4142085	chr20:23643446-23643447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201315129	chr20:23643456-23643457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10627328	chr20:23643457-23643458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs33971285	chr20:23643458-23643459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11473786	chr20:23643459-23643460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs8184852	chr20:23643460-23643461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs372605931	chr20:23643485-23643486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76516097	chr20:23643495-23643496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576925114	chr20:23643558-23643559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3004154	chr20:23643605-23643606	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs148132211	chr20:23643606-23643607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531457597	chr20:23643617-23643618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577080954	chr20:23643689-23643690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114188753	chr20:23643698-23643699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538257910	chr20:23643713-23643714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184049958	chr20:23643723-23643724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1535267	chr20:23643751-23643752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548021395	chr20:23643771-23643772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6114218	chr20:23643776-23643777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34307032	chr20:23643782-23643783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114857502	chr20:23643813-23643814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369709869	chr20:23643818-23643819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539988802	chr20:23643839-23643840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373444319	chr20:23643848-23643849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111556081	chr20:23643906-23643907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375632013	chr20:23643916-23643917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140203853	chr20:23643984-23643985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570906840	chr20:23644028-23644029	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192223912	chr20:23644032-23644033	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555329823	chr20:23644049-23644050	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142351861	chr20:23644050-23644051	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23637200-23643600	Weak transcription	Right Atrium	heart
2	chr20:23637200-23660000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:23637800-23644200	Enhancers	Fetal Intestine Large	intestine
4	chr20:23638400-23644200	Enhancers	Fetal Intestine Small	intestine
5	chr20:23639400-23643200	Flanking Active TSS	HepG2	liver
6	chr20:23639800-23643400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:23641800-23647000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr20:23641800-23647200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr20:23641800-23647200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr20:23641800-23652200	Weak transcription	Adipose Nuclei	Adipose
11	chr20:23642400-23644800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:23642400-23649400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr20:23642600-23647000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr20:23642600-23647000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr20:23643000-23643200	Enhancers	Esophagus	oesophagus
16	chr20:23643000-23643200	Enhancers	Fetal Muscle Leg	muscle
17	chr20:23643000-23644000	Enhancers	Fetal Muscle Trunk	muscle
18	chr20:23643200-23643600	Weak transcription	Fetal Muscle Leg	muscle
19	chr20:23643200-23644200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr20:23643200-23646000	Enhancers	HepG2	liver
21	chr20:23643400-23646800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr20:23643600-23643800	Enhancers	Fetal Muscle Leg	muscle
23	chr20:23643800-23647800	Weak transcription	Fetal Muscle Leg	muscle
24	chr20:23644000-23644200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr20:23644000-23648400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr20:23644800-23645000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr20:23644800-23645400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr20:23645000-23645600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr20:23645400-23646200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr20:23645600-23645800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr20:23645800-23646000	Enhancers	Spleen	Spleen
32	chr20:23645800-23647000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr20:23646000-23647000	Weak transcription	Spleen	Spleen
34	chr20:23646000-23649200	Weak transcription	HepG2	liver
35	chr20:23646800-23647200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr20:23647000-23647200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr20:23647000-23647600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr20:23647000-23647600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr20:23647000-23647600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr20:23647000-23647800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr20:23647000-23648000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr20:23647000-23648000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr20:23647000-23648000	Enhancers	HUVEC	blood vessel
44	chr20:23647000-23648200	Enhancers	Spleen	Spleen
45	chr20:23647000-23648800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr20:23647200-23647400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr20:23647200-23648000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr20:23647200-23648400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr20:23647400-23648000	Enhancers	HSMMtube	muscle
50	chr20:23647400-23648200	Enhancers	Fetal Lung	lung

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