Variant report

Variant	nsv1067403
Chromosome Location	chr20:905785-957880
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:803857..807024-chr20:934811..937624,3	K562	blood:
2	chr20:796973..799654-chr20:935425..937231,3	MCF-7	breast:
3	chr20:899077..901728-chr20:908752..911161,2	K562	blood:
4	chr20:822278..824306-chr20:931602..934155,2	MCF-7	breast:
5	chr20:921972..923694-chr20:931266..933420,2	K562	blood:
6	chr20:825500..828498-chr20:933368..935966,2	K562	blood:
7	chr20:914281..915061-chr3:49059512..49060483,2	NB4	blood:
8	chr20:952511..954178-chr20:954771..956595,2	K562	blood:
9	chr20:932447..932948-chr3:118603642..118604180,2	MCF-7	breast:
10	chr20:954215..956165-chr20:961028..964552,3	K562	blood:
11	chr20:799788..800335-chr20:934158..934864,2	MCF-7	breast:
12	chr20:799729..800297-chr20:932240..932945,2	MCF-7	breast:
13	chr20:821593..824670-chr20:933298..935566,3	MCF-7	breast:
14	chr20:925330..928261-chr20:941058..943608,3	K562	blood:
15	chr20:796394..796933-chr20:954059..954656,3	MCF-7	breast:
16	chr20:925330..928261-chr20:941058..943608,3	K562	blood:
17	chr20:796804..797398-chr20:932502..933021,2	MCF-7	breast:
18	chr20:921972..923694-chr20:931266..933420,2	K562	blood:
19	chr20:795990..797377-chr20:936805..937678,14	MCF-7	breast:
20	chr20:796424..797260-chr20:945926..946688,2	MCF-7	breast:
21	chr20:799323..800270-chr20:936796..937772,6	MCF-7	breast:
22	chr20:796433..797362-chr20:934372..935366,3	MCF-7	breast:
23	chr20:949133..950915-chr20:952237..954916,2	K562	blood:
24	chr20:796451..797739-chr20:936332..938013,6	MCF-7	breast:
25	chr20:816175..818667-chr20:934198..936952,2	MCF-7	breast:
26	chr20:809429..810296-chr20:934002..934836,4	MCF-7	breast:
27	chr20:952511..954178-chr20:954771..956595,2	K562	blood:
28	chr20:949133..950915-chr20:952237..954916,2	K562	blood:
29	chr20:796378..796938-chr20:936819..937540,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000125898	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000178057	chromatin interactions

Extended variants
information (count: 2363 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2363 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7267882	chr20:905785-905786	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529823326	chr20:905805-905806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542402001	chr20:905808-905809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6039184	chr20:905810-905811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559456858	chr20:905819-905820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528274751	chr20:905832-905833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545062862	chr20:905856-905857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6039185	chr20:905878-905879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77197659	chr20:905923-905924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539975526	chr20:905926-905927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530504823	chr20:905937-905938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376931463	chr20:905963-905964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6039186	chr20:905987-905988	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs7263917	chr20:905992-905993	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73892555	chr20:906028-906029	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549421127	chr20:906035-906036	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188445714	chr20:906042-906043	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34545968	chr20:906043-906044	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537299658	chr20:906046-906047	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191233235	chr20:906084-906085	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535534900	chr20:906095-906096	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61035320	chr20:906104-906105	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571434891	chr20:906116-906117	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537042570	chr20:906141-906142	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61032375	chr20:906198-906199	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs60325925	chr20:906208-906209	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs58031450	chr20:906217-906218	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536497738	chr20:906229-906230	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56751725	chr20:906233-906234	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs507636	chr20:906235-906236	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544911378	chr20:906255-906256	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369920014	chr20:906280-906281	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs8118069	chr20:906285-906286	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78210718	chr20:906286-906287	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143411205	chr20:906329-906330	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6140636	chr20:906336-906337	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148380737	chr20:906339-906340	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182225871	chr20:906366-906367	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58852849	chr20:906382-906383	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559828805	chr20:906385-906386	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187545934	chr20:906393-906394	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551734090	chr20:906409-906410	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145797038	chr20:906421-906422	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568442798	chr20:906430-906431	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537106185	chr20:906463-906464	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534273865	chr20:906493-906494	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550661156	chr20:906523-906524	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192590439	chr20:906528-906529	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76479026	chr20:906539-906540	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545927377	chr20:906557-906558	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Glioblastoma multiforme	22286061	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	19455253	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17603634	CNVD
Colorectal cancer	19359472	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16774939	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
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
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	17426248	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
XY gonadal dysgenesis	20685758	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:897400-954200	Weak transcription	Right Atrium	heart
2	chr20:903200-906400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr20:904800-907600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr20:904800-907600	Enhancers	Adipose Nuclei	Adipose
5	chr20:905000-905800	Enhancers	HepG2	liver
6	chr20:905000-905800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr20:905000-906000	Enhancers	Fetal Intestine Small	intestine
8	chr20:905000-906200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:905600-905800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr20:905600-906000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr20:905600-906200	Enhancers	Ovary	ovary
12	chr20:905800-906200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr20:905800-906800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr20:906000-913200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:906200-906600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr20:906200-907200	Weak transcription	Ovary	ovary
17	chr20:906600-907800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr20:906800-907600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr20:907200-907400	Enhancers	Ovary	ovary
20	chr20:910400-910800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr20:912600-913200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr20:913200-914200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr20:914000-914400	Enhancers	Duodenum Mucosa	Duodenum
24	chr20:914000-914400	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr20:914000-914400	Enhancers	Stomach Mucosa	stomach
26	chr20:914800-915200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr20:915200-924800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr20:921600-921800	Enhancers	Adipose Nuclei	Adipose
29	chr20:921600-921800	Enhancers	Duodenum Mucosa	Duodenum
30	chr20:921800-923400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr20:922200-922400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr20:923400-925200	Enhancers	Duodenum Mucosa	Duodenum
33	chr20:923400-925600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr20:923600-924000	Enhancers	H9 Cell Line	embryonic stem cell
35	chr20:923600-924000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr20:923600-924400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr20:923800-924000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr20:923800-925800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr20:923800-926000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr20:923800-926000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr20:923800-926600	Enhancers	Fetal Intestine Small	intestine
42	chr20:924000-924200	Enhancers	Stomach Mucosa	stomach
43	chr20:924000-925000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr20:924000-925000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr20:924000-925200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr20:924000-925200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr20:924200-924400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr20:924200-925000	Weak transcription	Stomach Mucosa	stomach
49	chr20:924200-926200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr20:924400-924800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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