Variant report

Variant	esv10424
Chromosome Location	chr8:61218121-61227873
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61184779..61186799-chr8:61217121..61219019,2	K562	blood:
2	chr8:61192394..61195185-chr8:61226476..61228228,2	K562	blood:
3	chr8:61227300..61229180-chr8:61238687..61241491,2	K562	blood:
4	chr8:61192318..61194144-chr8:61218440..61220489,2	K562	blood:
5	chr8:61226489..61228868-chr8:61236749..61240187,3	K562	blood:
6	chr8:61191107..61195383-chr8:61226476..61230514,6	K562	blood:
7	chr8:61226478..61228386-chr8:61230006..61231856,2	K562	blood:

Variant related genes	Relation type
ENSG00000178538	chromatin interactions

Extended variants
information (count: 334 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549918944	chr8:61218447-61218448	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1842392	chr8:61218471-61218472	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs60690040	chr8:61218490-61218491	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs180828780	chr8:61218496-61218497	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572242144	chr8:61218515-61218516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375573327	chr8:61218580-61218581	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138400403	chr8:61218655-61218656	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs115409463	chr8:61218662-61218663	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576194318	chr8:61218667-61218668	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146151404	chr8:61218738-61218739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185817214	chr8:61218748-61218749	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576951701	chr8:61218827-61218828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541009732	chr8:61218842-61218843	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566238661	chr8:61218893-61218894	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559736019	chr8:61218894-61218895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112432656	chr8:61218896-61218897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1842391	chr8:61218929-61218930	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs548864923	chr8:61218946-61218947	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563698496	chr8:61218998-61218999	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531152693	chr8:61219028-61219029	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552835882	chr8:61219029-61219030	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571352068	chr8:61219034-61219035	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs138819850	chr8:61219045-61219046	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189794211	chr8:61219144-61219145	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141389980	chr8:61219165-61219166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373900397	chr8:61219207-61219208	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554863079	chr8:61219208-61219209	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs575803043	chr8:61219211-61219212	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377528871	chr8:61219214-61219215	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558361196	chr8:61219242-61219243	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150857125	chr8:61219245-61219246	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577637158	chr8:61219247-61219248	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs34530545	chr8:61219284-61219285	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181036863	chr8:61219304-61219305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs139289422	chr8:61219385-61219386	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574794170	chr8:61219413-61219414	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs59489989	chr8:61219442-61219443	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs376856692	chr8:61219446-61219447	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185513701	chr8:61219470-61219471	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs563989541	chr8:61219482-61219483	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531268502	chr8:61219485-61219486	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs546411035	chr8:61219531-61219532	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564717690	chr8:61219540-61219541	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532198397	chr8:61219638-61219639	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190465908	chr8:61219654-61219655	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555891969	chr8:61219687-61219688	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149584819	chr8:61219715-61219716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183628060	chr8:61219719-61219720	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs147416986	chr8:61219769-61219770	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569598939	chr8:61219776-61219777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61222200-61222600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:61222600-61225000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:61222800-61225200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:61222800-61225400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:61225000-61225800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:61225000-61225800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:61225200-61225400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:61225200-61225800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:61225200-61226400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:61225200-61226400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:61225400-61225600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:61225400-61225600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:61225400-61225800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:61225400-61226400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:61225600-61226600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:61225600-61227400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:61225800-61226000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:61225800-61226000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:61225800-61226200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:61225800-61227200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:61226000-61227400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:61226200-61226400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr8:61226200-61226600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr8:61226200-61226600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:61226200-61227200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:61226200-61228200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:61226400-61227400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:61226400-61227400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:61226400-61227600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:61226400-61228400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:61226600-61228200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:61226600-61232800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:61227200-61228000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr8:61227400-61227600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:61227400-61227800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr8:61227400-61228000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr8:61227400-61228200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:61227400-61228400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:61227600-61228800	Enhancers	HUES48 Cell Line	embryonic stem cell

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