Variant report

Variant	nsv585720
Chromosome Location	chr20:22333108-22376421
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:22)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:22365665..22368582-chr20:22383826..22386632,2	K562	blood:
2	chr20:22366390..22366989-chr20:22433652..22434163,2	MCF-7	breast:
3	chr20:22370610..22371195-chr7:48238769..48239532,2	MCF-7	breast:
4	chr20:22346209..22349416-chr20:22351186..22353958,3	K562	blood:
5	chr20:22361627..22363924-chr20:22364677..22366958,2	K562	blood:
6	chr20:22363421..22365818-chr20:22366785..22369360,2	MCF-7	breast:
7	chr20:22365147..22367549-chr20:22369870..22372242,2	K562	blood:
8	chr20:22366522..22367288-chr20:22665851..22666462,2	MCF-7	breast:
9	chr20:22346209..22349416-chr20:22351186..22353958,3	K562	blood:
10	chr20:22363421..22365818-chr20:22366785..22369360,2	MCF-7	breast:
11	chr20:22365717..22368211-chr20:22379040..22381660,2	K562	blood:
12	chr20:22366454..22367766-chr20:22663883..22665261,8	MCF-7	breast:
13	chr20:22366314..22367169-chr20:22567127..22567944,2	K562	blood:
14	chr20:22365147..22367549-chr20:22369870..22372242,2	K562	blood:
15	chr20:22353673..22355740-chr20:22368367..22370907,2	MCF-7	breast:
16	chr20:22341834..22344598-chr20:22346475..22348870,2	MCF-7	breast:
17	chr20:22347795..22349635-chr20:22354265..22355789,2	MCF-7	breast:
18	chr20:22361627..22363924-chr20:22364677..22366958,2	K562	blood:
19	chr20:22353673..22355740-chr20:22368367..22370907,2	MCF-7	breast:
20	chr20:22366093..22367607-chr20:22664100..22665419,7	MCF-7	breast:
21	chr20:22347795..22349635-chr20:22354265..22355789,2	MCF-7	breast:
22	chr20:22341834..22344598-chr20:22346475..22348870,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSTR4-6	chr20:22371351-22371509	XLOC_013484
2	lnc-FOXA2-11	chr20:22348598-22349281	refGeneNc_2669_NR_027090
3	lnc-FOXA2-11	chr20:22348598-22349281	NONHSAT078972
4	lnc-FOXA2-11	chr20:22335267-22335350	NONHSAT078972
5	lnc-SSTR4-6	chr20:22370851-22371231	XLOC_013484

No data

Variant related genes	Relation type
ENSG00000230400	chromatin interactions

Extended variants
information (count: 1826 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1826 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs169233	chr20:22333108-22333109	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184184264	chr20:22333138-22333139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186715250	chr20:22333150-22333151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541400101	chr20:22333185-22333186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192070539	chr20:22333224-22333225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578215322	chr20:22333283-22333284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113244977	chr20:22333305-22333306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543740252	chr20:22333321-22333322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563956819	chr20:22333328-22333329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529423483	chr20:22333351-22333352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12481593	chr20:22333364-22333365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs561414592	chr20:22333377-22333378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150917465	chr20:22333404-22333405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140287970	chr20:22333428-22333429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570336991	chr20:22333465-22333466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114865254	chr20:22333466-22333467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555606679	chr20:22333469-22333470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549803406	chr20:22333495-22333496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182780925	chr20:22333521-22333522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535061451	chr20:22333567-22333568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376587462	chr20:22333593-22333594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555910332	chr20:22333629-22333630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183219	chr20:22333643-22333644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148763258	chr20:22333755-22333756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187039474	chr20:22333758-22333759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs8125794	chr20:22333760-22333761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs191139602	chr20:22333761-22333762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563174128	chr20:22333805-22333806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373048840	chr20:22333852-22333853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117615165	chr20:22333924-22333925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577958203	chr20:22333958-22333959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529863127	chr20:22333962-22333963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182263326	chr20:22333963-22333964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186743476	chr20:22334018-22334019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574194447	chr20:22334024-22334025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542784917	chr20:22334025-22334026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559500413	chr20:22334073-22334074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199829	chr20:22334203-22334204	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs207477493	chr20:22334208-22334209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115727858	chr20:22334224-22334225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147366664	chr20:22334233-22334234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532745588	chr20:22334256-22334257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193075759	chr20:22334297-22334298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116200607	chr20:22334298-22334299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554978287	chr20:22334305-22334306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549223901	chr20:22334313-22334314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139583874	chr20:22334344-22334345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185861079	chr20:22334373-22334374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149922629	chr20:22334387-22334388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11905169	chr20:22334397-22334398	Enhancers	n/a	n/a	Overlapped CNVs	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
Cancer	20164919	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	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22327600-22334200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:22329400-22334000	Weak transcription	K562	blood
3	chr20:22330600-22333200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr20:22334000-22334600	Enhancers	K562	blood
5	chr20:22334200-22334600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:22334200-22334800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:22334200-22335400	Enhancers	A549	lung
8	chr20:22334400-22335600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr20:22334800-22354000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr20:22335000-22335800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr20:22347400-22347800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:22347600-22347800	Bivalent Enhancer	HepG2	liver
13	chr20:22348200-22349400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr20:22348200-22350400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr20:22348200-22353600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr20:22348400-22348600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr20:22348400-22349800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr20:22348400-22352200	Enhancers	Primary B cells from cord blood	blood
19	chr20:22348400-22352400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr20:22348400-22354800	Enhancers	Primary B cells from peripheral blood	blood
21	chr20:22348600-22354000	Enhancers	Primary hematopoietic stem cells	blood
22	chr20:22349000-22349600	Bivalent Enhancer	Brain Hippocampus Middle	brain
23	chr20:22349400-22352200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr20:22349800-22350200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr20:22350000-22352200	Enhancers	Primary T cells from cord blood	blood
26	chr20:22350200-22350400	Enhancers	Psoas Muscle	Psoas
27	chr20:22350200-22350400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr20:22350400-22350600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr20:22350400-22351000	Weak transcription	Psoas Muscle	Psoas
30	chr20:22350400-22351000	Enhancers	GM12878-XiMat	blood
31	chr20:22350400-22352400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr20:22350600-22350800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr20:22350800-22351000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr20:22350800-22353400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr20:22351000-22351200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr20:22351000-22351200	Enhancers	A549	lung
37	chr20:22351000-22352000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr20:22351000-22353000	Enhancers	Psoas Muscle	Psoas
39	chr20:22351200-22352200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr20:22351200-22352400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr20:22351200-22353800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr20:22351200-22354000	Weak transcription	A549	lung
43	chr20:22351400-22353000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr20:22352000-22353000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr20:22352000-22353200	Enhancers	Thymus	Thymus
46	chr20:22352200-22352400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr20:22352200-22352600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr20:22352200-22352800	Enhancers	GM12878-XiMat	blood
49	chr20:22352200-22353000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr20:22352200-22353000	Flanking Active TSS	Primary B cells from cord blood	blood

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