Variant report

Variant	esv1836296
Chromosome Location	chr8:85239703-85267546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:85254893..85257135-chr8:85258246..85262364,3	K562	blood:
2	chr8:85244937..85247622-chr8:85249588..85252468,2	MCF-7	breast:
3	chr8:85254893..85257135-chr8:85258246..85262364,3	K562	blood:
4	chr8:85244937..85247622-chr8:85249588..85252468,2	MCF-7	breast:
5	chr8:85168225..85170591-chr8:85247775..85249276,2	K562	blood:

Extended variants
information (count: 499 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10504792	chr8:85239703-85239704	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570883812	chr8:85239706-85239707	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143925240	chr8:85239714-85239715	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557262512	chr8:85239758-85239759	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73291401	chr8:85239816-85239817	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147235989	chr8:85239817-85239818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532687673	chr8:85239819-85239820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192392913	chr8:85239847-85239848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140720882	chr8:85239850-85239851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541506351	chr8:85239860-85239861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141296684	chr8:85239863-85239864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559260526	chr8:85239876-85239877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73291402	chr8:85239888-85239889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147645854	chr8:85239928-85239929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572853880	chr8:85239930-85239931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376100622	chr8:85239934-85239935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536397851	chr8:85239974-85239975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185091088	chr8:85239978-85239979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150796596	chr8:85239982-85239983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545556365	chr8:85240007-85240008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543241870	chr8:85240008-85240009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112508132	chr8:85240081-85240082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187434941	chr8:85240165-85240166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551020933	chr8:85240180-85240181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541953941	chr8:85240219-85240220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530573316	chr8:85240235-85240236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538585940	chr8:85240241-85240242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550284140	chr8:85240304-85240305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561616660	chr8:85240336-85240337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536120753	chr8:85240353-85240354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553222557	chr8:85240441-85240442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566620385	chr8:85240449-85240450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs56952796	chr8:85240470-85240471	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs16912698	chr8:85240474-85240475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs578143301	chr8:85240489-85240490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs60990495	chr8:85240537-85240538	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs557063638	chr8:85240565-85240566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574292454	chr8:85240593-85240594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542924755	chr8:85240596-85240597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139220485	chr8:85240604-85240605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193187106	chr8:85240610-85240611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377655226	chr8:85240671-85240672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185225819	chr8:85240741-85240742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73293008	chr8:85240843-85240844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs530505831	chr8:85240859-85240860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73293009	chr8:85240871-85240872	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567120090	chr8:85240978-85240979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576875199	chr8:85240992-85240993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530003016	chr8:85241000-85241001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113264436	chr8:85241041-85241042	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	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
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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85238200-85240400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:85239000-85241400	Enhancers	Fetal Intestine Large	intestine
3	chr8:85239400-85240200	Weak transcription	Fetal Intestine Small	intestine
4	chr8:85239600-85239800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:85239600-85239800	Enhancers	Spleen	Spleen
6	chr8:85240200-85241400	Enhancers	Fetal Intestine Small	intestine
7	chr8:85240400-85241200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:85240400-85241200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:85241200-85242600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:85241200-85247200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:85241400-85242600	Weak transcription	Fetal Intestine Large	intestine
12	chr8:85241400-85242800	Weak transcription	Fetal Intestine Small	intestine
13	chr8:85242600-85245400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:85242600-85246000	Enhancers	Fetal Intestine Large	intestine
15	chr8:85242800-85244800	Enhancers	Fetal Intestine Small	intestine
16	chr8:85245400-85247400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:85247200-85247600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:85247200-85247600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:85247200-85247600	Enhancers	Right Atrium	heart
20	chr8:85247200-85248600	Enhancers	Fetal Heart	heart
21	chr8:85247400-85249600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:85247600-85249200	Enhancers	Fetal Brain Male	brain
23	chr8:85247800-85248600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:85248000-85248400	Enhancers	Stomach Smooth Muscle	stomach
25	chr8:85248000-85248600	Enhancers	Fetal Brain Female	brain
26	chr8:85263200-85263600	Enhancers	Brain Germinal Matrix	brain
27	chr8:85264000-85264200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:85264000-85264200	Enhancers	Brain Germinal Matrix	brain
29	chr8:85264600-85265800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:85264800-85265000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr8:85265000-85265600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:85265400-85267200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:85265600-85266000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:85265600-85266600	Enhancers	NH-A	brain
35	chr8:85265600-85266800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:85265600-85266800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:85265600-85267400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:85265600-85267600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:85265600-85267800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr8:85265600-85268200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr8:85265800-85266800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:85265800-85267000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:85265800-85267200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr8:85265800-85267400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr8:85266400-85268200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr8:85267200-85268200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:85267200-85272200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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