Variant report

Variant	nsv458848
Chromosome Location	chr20:854681-875368
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:0)
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	chr20:852716..855499-chr20:860889..862928,2	MCF-7	breast:
2	chr20:852716..855499-chr20:860889..862928,2	MCF-7	breast:
3	chr20:859998..862638-chr20:865942..867662,2	MCF-7	breast:
4	chr20:858282..861279-chr20:864400..866707,2	K562	blood:
5	chr20:857198..860086-chr20:873899..876217,2	MCF-7	breast:
6	chr20:873612..875715-chr20:890183..892090,2	MCF-7	breast:
7	chr20:822774..824737-chr20:855647..857303,2	MCF-7	breast:
8	chr20:822258..824551-chr20:869597..872027,2	MCF-7	breast:
9	chr20:858282..861279-chr20:864400..866707,2	K562	blood:
10	chr11:64545092..64545731-chr20:861830..862385,2	HCT-116	colon:
11	chr20:854802..856331-chr20:1098380..1100716,2	MCF-7	breast:
12	chr20:859998..862638-chr20:865942..867662,2	MCF-7	breast:
13	chr20:857198..860086-chr20:873899..876217,2	MCF-7	breast:
14	chr20:835633..837768-chr20:861494..863421,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000125818	chromatin interactions
ENSG00000168066	chromatin interactions

Extended variants
information (count: 983 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:983 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs944108	chr20:854681-854682	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564295229	chr20:854687-854688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533357144	chr20:854694-854695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144483842	chr20:854721-854722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563675893	chr20:854733-854734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs944109	chr20:854754-854755	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549143091	chr20:854769-854770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2297122	chr20:854807-854808	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534885816	chr20:854852-854853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs117215455	chr20:854892-854893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2297123	chr20:854900-854901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371538515	chr20:854926-854927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575888416	chr20:854934-854935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs944110	chr20:854940-854941	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs150248384	chr20:854945-854946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556996275	chr20:854958-854959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138862272	chr20:854962-854963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs62641668	chr20:854973-854974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552667997	chr20:855022-855023	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145865328	chr20:855036-855037	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs138470353	chr20:855044-855045	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541285678	chr20:855047-855048	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs142791988	chr20:855049-855050	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374899414	chr20:855104-855105	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs73078132	chr20:855113-855114	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577811426	chr20:855156-855157	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs543634071	chr20:855169-855170	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs371503969	chr20:855210-855211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563787741	chr20:855253-855254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201419723	chr20:855302-855303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs148453909	chr20:855303-855304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs6055483	chr20:855339-855340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs142583689	chr20:855356-855357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs150952922	chr20:855359-855360	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs59652524	chr20:855369-855370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571595146	chr20:855393-855394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs530709240	chr20:855425-855426	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112136092	chr20:855475-855476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567478559	chr20:855486-855487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs535923733	chr20:855510-855511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs553043235	chr20:855542-855543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs73078135	chr20:855551-855552	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs58166346	chr20:855575-855576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs56052238	chr20:855602-855603	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577949520	chr20:855616-855617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs140736054	chr20:855658-855659	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557245236	chr20:855664-855665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs549544827	chr20:855669-855670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs199898878	chr20:855675-855676	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200148722	chr20:855676-855677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:841200-855000	Weak transcription	Spleen	Spleen
2	chr20:853200-855200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:853400-855000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr20:853400-856000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:854200-855400	Enhancers	Stomach Mucosa	stomach
6	chr20:854200-855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr20:854600-855000	Enhancers	GM12878-XiMat	blood
8	chr20:854600-855200	Enhancers	Esophagus	oesophagus
9	chr20:854600-869000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr20:855000-855200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:855000-855200	Enhancers	Spleen	Spleen
12	chr20:855200-855800	Weak transcription	Esophagus	oesophagus
13	chr20:855200-856600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:855600-856400	Enhancers	NHEK	skin
15	chr20:855800-856000	Enhancers	Esophagus	oesophagus
16	chr20:855800-856200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr20:855800-856400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:855800-856400	Enhancers	HMEC	breast
19	chr20:856400-858400	Weak transcription	HMEC	breast
20	chr20:858800-859000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr20:859000-861800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr20:860400-860600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr20:861600-862000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr20:861600-863600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr20:861800-862200	Enhancers	NHEK	skin
26	chr20:861800-862600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr20:861800-862800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr20:861800-862800	Enhancers	HMEC	breast
29	chr20:861800-863000	Enhancers	A549	lung
30	chr20:861800-863600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr20:862000-862200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr20:862000-862200	Enhancers	Spleen	Spleen
33	chr20:862000-862400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr20:862000-862400	Enhancers	NHLF	lung
35	chr20:862000-862600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr20:862000-862600	Enhancers	GM12878-XiMat	blood
37	chr20:862000-862600	Enhancers	Osteobl	bone
38	chr20:862000-862800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr20:862000-862800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr20:862000-863000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr20:862000-863200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr20:862000-863400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr20:862000-863400	Enhancers	Hela-S3	cervix
44	chr20:862200-862600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr20:862200-862600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr20:862200-862600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr20:862200-863000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr20:862200-863200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr20:862200-863400	Flanking Active TSS	NHEK	skin
50	chr20:862200-865400	Weak transcription	Spleen	Spleen

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