Variant report

Variant	nsv585195
Chromosome Location	chr20:1234243-1240933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1227236..1231835-chr20:1234457..1238851,4	K562	blood:
2	chr20:1206486..1210181-chr20:1234837..1238465,3	K562	blood:
3	chr20:1218124..1220880-chr20:1235960..1237512,2	K562	blood:
4	chr20:1206971..1208847-chr20:1236164..1237785,2	K562	blood:
5	chr20:1234965..1237680-chr20:1245732..1247732,2	K562	blood:
6	chr20:1233558..1237578-chr20:1245297..1248441,5	K562	blood:
7	chr20:1229929..1231590-chr20:1232028..1234534,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244588	chromatin interactions
ENSG00000101298	chromatin interactions

Extended variants
information (count: 211 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs387035	chr20:1234243-1234244	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186953911	chr20:1234322-1234323	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79079125	chr20:1234333-1234334	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs62187484	chr20:1234335-1234336	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73890809	chr20:1234360-1234361	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs10485821	chr20:1234390-1234391	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565948371	chr20:1234398-1234399	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534655037	chr20:1234412-1234413	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35011653	chr20:1234422-1234423	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565463672	chr20:1234445-1234446	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs551309657	chr20:1234468-1234469	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113617475	chr20:1234486-1234487	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536883095	chr20:1234666-1234667	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs547841672	chr20:1234690-1234691	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567668854	chr20:1234696-1234697	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535982290	chr20:1234716-1234717	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs147719966	chr20:1234718-1234719	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs453311	chr20:1234735-1234736	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs74848320	chr20:1234737-1234738	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75536212	chr20:1234773-1234774	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575690677	chr20:1234784-1234785	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564801773	chr20:1234790-1234791	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114073016	chr20:1234811-1234812	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs192993695	chr20:1234832-1234833	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs75850914	chr20:1234840-1234841	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs377431155	chr20:1234902-1234903	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs141028795	chr20:1235030-1235031	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs117961856	chr20:1235040-1235041	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs150223261	chr20:1235128-1235129	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs182573751	chr20:1235173-1235174	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs528506913	chr20:1235219-1235220	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs551346505	chr20:1235305-1235306	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs187889035	chr20:1235306-1235307	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs397932886	chr20:1235314-1235315	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs185528561	chr20:1235317-1235318	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs193024989	chr20:1235374-1235375	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs550819608	chr20:1235421-1235422	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs115884757	chr20:1235437-1235438	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs536441180	chr20:1235500-1235501	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs530528309	chr20:1235630-1235631	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs572956194	chr20:1235641-1235642	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs185756212	chr20:1235648-1235649	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs116195860	chr20:1235649-1235650	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs372922564	chr20:1235686-1235687	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs200915151	chr20:1235798-1235799	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs574517233	chr20:1235906-1235907	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs540493508	chr20:1235935-1235936	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs188952754	chr20:1235942-1235943	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs574200039	chr20:1235975-1235976	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs192059000	chr20:1236056-1236057	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1233600-1235000	Enhancers	K562	blood
2	chr20:1234400-1235600	Enhancers	Fetal Lung	lung
3	chr20:1235000-1235400	Flanking Active TSS	K562	blood
4	chr20:1235200-1235400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr20:1235400-1236600	Enhancers	K562	blood
6	chr20:1236000-1236600	Enhancers	HUVEC	blood vessel
7	chr20:1236600-1237200	ZNF genes & repeats	K562	blood
8	chr20:1238000-1239000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr20:1239000-1239800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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