Variant report

Variant	esv2761427
Chromosome Location	chr8:59204373-59242564
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59208050..59210067-chr8:59212909..59214826,2	K562	blood:
2	chr8:58909464..58910475-chr8:59230213..59231564,3	MCF-7	breast:
3	chr8:59230596..59231330-chr8:59307984..59308748,2	K562	blood:
4	chr8:58332553..58333478-chr8:59230571..59231163,3	K562	blood:
5	chr8:59208050..59210067-chr8:59212909..59214826,2	K562	blood:
6	chr8:59237498..59240129-chr8:59242647..59244398,2	K562	blood:

Extended variants
information (count: 1329 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1329 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34809698	chr8:59204385-59204386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138576079	chr8:59204395-59204396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571444697	chr8:59204411-59204412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs117468286	chr8:59204428-59204429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs550362440	chr8:59204441-59204442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs567080273	chr8:59204478-59204479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs536171575	chr8:59204500-59204501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs553204452	chr8:59204535-59204536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs566632939	chr8:59204536-59204537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs371172232	chr8:59204598-59204599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs374682724	chr8:59204634-59204635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs538663812	chr8:59204684-59204685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs62512352	chr8:59204693-59204694	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs377469105	chr8:59204725-59204726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs575459872	chr8:59204755-59204756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs544280158	chr8:59204763-59204764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs149290207	chr8:59204769-59204770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs377339472	chr8:59204799-59204800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs144555905	chr8:59204826-59204827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs4573259	chr8:59204838-59204839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs369532085	chr8:59204847-59204848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs528769758	chr8:59204876-59204877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs377371010	chr8:59204890-59204891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs370842064	chr8:59205010-59205011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs115431622	chr8:59205022-59205023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs7825749	chr8:59205044-59205045	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs368029136	chr8:59205071-59205072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs138089198	chr8:59205089-59205090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs375552702	chr8:59205129-59205130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs6995701	chr8:59205130-59205131	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs567145189	chr8:59205137-59205138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs529928191	chr8:59205139-59205140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs527485779	chr8:59205151-59205152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs532894754	chr8:59205163-59205164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs547617692	chr8:59205218-59205219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs142667769	chr8:59205242-59205243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs11997457	chr8:59205317-59205318	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538554652	chr8:59205364-59205365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs4737494	chr8:59205404-59205405	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs145939320	chr8:59205465-59205466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs569226834	chr8:59205466-59205467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs537957647	chr8:59205473-59205474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs554680132	chr8:59205489-59205490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs192993069	chr8:59205508-59205509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs183690593	chr8:59205510-59205511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs373273533	chr8:59205512-59205513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs553285288	chr8:59205513-59205514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs573482870	chr8:59205530-59205531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs115621701	chr8:59205542-59205543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs139835639	chr8:59205555-59205556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59199000-59204400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:59204400-59205600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:59207000-59208000	Enhancers	GM12878-XiMat	blood
4	chr8:59207600-59209200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:59208600-59208800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:59208600-59209600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:59209000-59209200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:59209200-59210000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:59209200-59211000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:59209400-59210000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:59209400-59210400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:59209400-59210800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:59209600-59210600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:59209800-59210800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:59209800-59211000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:59209800-59211200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:59210000-59210400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr8:59210000-59210400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr8:59210000-59210600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:59210200-59210400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr8:59210200-59210600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:59210400-59210600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:59210400-59210600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:59210400-59212800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:59210400-59212800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:59210600-59212400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:59210600-59212600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:59210600-59212600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:59210600-59212800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:59210800-59212800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:59210800-59213000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:59211000-59211200	Enhancers	Fetal Heart	heart
33	chr8:59211000-59212400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:59211000-59212600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:59211200-59212400	Weak transcription	Fetal Heart	heart
36	chr8:59211200-59212600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:59211600-59211800	Enhancers	Right Atrium	heart
38	chr8:59211600-59213200	Enhancers	Left Ventricle	heart
39	chr8:59211800-59212800	Weak transcription	Right Atrium	heart
40	chr8:59212200-59213200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:59212200-59213600	Enhancers	Placenta	Placenta
42	chr8:59212400-59213200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:59212400-59213600	Enhancers	Fetal Heart	heart
44	chr8:59212400-59213800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:59212600-59213200	Enhancers	Placenta Amnion	Placenta Amnion
46	chr8:59212600-59213600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr8:59212600-59213600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:59212600-59213600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr8:59212600-59213800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr8:59212600-59219400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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