Variant report

Variant	nsv1056616
Chromosome Location	chr20:22042418-22154935
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:14)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:22067261..22069305-chr20:22072791..22075627,2	K562	blood:
2	chr20:22086890..22087527-chr20:22228757..22229332,2	MCF-7	breast:
3	chr20:21620906..21621858-chr20:22086647..22087853,11	MCF-7	breast:
4	chr20:21789602..21790361-chr20:22086683..22087584,5	MCF-7	breast:
5	chr20:21776457..21777366-chr20:22087050..22087753,3	MCF-7	breast:
6	chr20:21773919..21776758-chr20:22060246..22062031,2	MCF-7	breast:
7	chr20:22067261..22069305-chr20:22072791..22075627,2	K562	blood:
8	chr20:21699983..21700853-chr20:22086882..22087935,4	MCF-7	breast:
9	chr20:21775602..21776151-chr20:22086395..22086962,2	MCF-7	breast:
10	chr20:22079237..22079762-chr20:22293569..22294123,2	MCF-7	breast:
11	chr20:21748036..21748770-chr20:22086694..22087215,2	MCF-7	breast:
12	chr20:21788351..21791666-chr20:22086552..22088383,19	MCF-7	breast:
13	chr20:21776519..21777104-chr20:22086867..22087439,2	MCF-7	breast:
14	chr20:21699983..21700856-chr20:22086830..22087521,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAX1-3	chr20:22049077-22049326	NONHSAT078963
2	lnc-PAX1-3	chr20:22049076-22049326	NONHSAT078962
3	lnc-PAX1-10	chr20:22150209-22150299	NONHSAT078964
4	lnc-PAX1-3	chr20:22055139-22055316	NONHSAT078962
5	lnc-PAX1-10	chr20:22151617-22151921	NONHSAT078964
6	lnc-PAX1-3	chr20:22054026-22054104	NONHSAT078963
7	lnc-PAX1-3	chr20:22054025-22054104	NONHSAT078962
8	lnc-PAX1-3	chr20:22054026-22054104	XLOC_013482
9	lnc-PAX1-3	chr20:22049077-22049326	XLOC_013482
10	lnc-PAX1-10	chr20:22149192-22149234	NONHSAT078964
11	lnc-PAX1-3	chr20:22055140-22055238	XLOC_013482
12	lnc-PAX1-3	chr20:22055140-22055292	NONHSAT078963

No data

Extended variants
information (count: 940 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:940 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs913063	chr20:22042418-22042419	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536712171	chr20:22042432-22042433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553094755	chr20:22042435-22042436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143089237	chr20:22042442-22042443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538680098	chr20:22042468-22042469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558800932	chr20:22042474-22042475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545981387	chr20:22042492-22042493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138649865	chr20:22042493-22042494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544592629	chr20:22042495-22042496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561492672	chr20:22042496-22042497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376899586	chr20:22042510-22042511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564185796	chr20:22042525-22042526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574937142	chr20:22042529-22042530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572842607	chr20:22042556-22042557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542705271	chr20:22042568-22042569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377348030	chr20:22042575-22042576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528078557	chr20:22042580-22042581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145494684	chr20:22042595-22042596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564897701	chr20:22042625-22042626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540230755	chr20:22042637-22042638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191386688	chr20:22042640-22042641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138123884	chr20:22042657-22042658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs118089337	chr20:22042664-22042665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141801296	chr20:22042735-22042736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529333631	chr20:22042736-22042737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150610576	chr20:22042743-22042744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538768717	chr20:22042746-22042747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183044739	chr20:22042770-22042771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139699548	chr20:22042771-22042772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538484109	chr20:22042776-22042777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6047848	chr20:22042795-22042796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555010421	chr20:22042824-22042825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149369503	chr20:22042849-22042850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187758280	chr20:22042857-22042858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559470643	chr20:22042864-22042865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192379787	chr20:22042894-22042895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545142749	chr20:22042919-22042920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533320409	chr20:22042988-22042989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112045357	chr20:22042998-22042999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73903803	chr20:22043001-22043002	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs551989613	chr20:22043063-22043064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549448335	chr20:22043142-22043143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6047849	chr20:22043159-22043160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550840112	chr20:22043182-22043183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6047850	chr20:22043187-22043188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561060332	chr20:22043218-22043219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529875199	chr20:22043222-22043223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546359526	chr20:22043230-22043231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112081349	chr20:22043235-22043236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187658215	chr20:22043245-22043246	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22039200-22044000	Enhancers	Primary T cells from cord blood	blood
2	chr20:22043200-22044400	Enhancers	Dnd41	blood
3	chr20:22043600-22044000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr20:22044000-22044400	Weak transcription	Primary T cells from cord blood	blood
5	chr20:22044400-22044800	Enhancers	Primary T cells from cord blood	blood
6	chr20:22047200-22051200	Weak transcription	Colon Smooth Muscle	Colon
7	chr20:22050400-22052000	Enhancers	Fetal Muscle Leg	muscle
8	chr20:22051000-22051600	Enhancers	Fetal Muscle Trunk	muscle
9	chr20:22051000-22052800	Enhancers	Fetal Stomach	stomach
10	chr20:22051000-22053200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr20:22051200-22052000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr20:22051200-22052000	Enhancers	NHDF-Ad	bronchial
13	chr20:22051200-22053400	Enhancers	Colon Smooth Muscle	Colon
14	chr20:22051400-22051600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr20:22052200-22052400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr20:22052600-22053400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr20:22061200-22062200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr20:22078800-22080400	Enhancers	Fetal Stomach	stomach
19	chr20:22079600-22079800	Enhancers	Fetal Kidney	kidney
20	chr20:22082200-22082400	Enhancers	Fetal Stomach	stomach
21	chr20:22083400-22085400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr20:22089600-22089800	Enhancers	Placenta	Placenta
23	chr20:22090400-22090600	Enhancers	Placenta	Placenta
24	chr20:22107400-22108000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr20:22107600-22108000	ZNF genes & repeats	Gastric	stomach
26	chr20:22107800-22108000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr20:22125200-22126800	Enhancers	Dnd41	blood
28	chr20:22125400-22126000	Enhancers	Fetal Stomach	stomach
29	chr20:22135800-22136000	Enhancers	Esophagus	oesophagus
30	chr20:22138600-22138800	Weak transcription	Esophagus	oesophagus
31	chr20:22138800-22139000	ZNF genes & repeats	Esophagus	oesophagus
32	chr20:22139000-22139200	Enhancers	Esophagus	oesophagus
33	chr20:22140000-22141200	Enhancers	Fetal Stomach	stomach
34	chr20:22140000-22141200	Enhancers	Stomach Mucosa	stomach
35	chr20:22141000-22141200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr20:22141000-22141200	Enhancers	Fetal Muscle Leg	muscle
37	chr20:22141200-22142200	Weak transcription	Fetal Muscle Leg	muscle
38	chr20:22142200-22142400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
39	chr20:22142200-22142600	Enhancers	Fetal Muscle Leg	muscle
40	chr20:22142400-22142600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr20:22142400-22144000	Enhancers	Primary hematopoietic stem cells	blood
42	chr20:22142800-22143400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr20:22143000-22143600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr20:22144600-22145200	Enhancers	Stomach Mucosa	stomach

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