Variant report

Variant	esv3446819
Chromosome Location	chr8:111792825-111817060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:111799556..111802962-chr8:111805139..111808019,3	MCF-7	breast:
2	chr8:111815829..111818454-chr8:111818863..111820532,2	K562	blood:
3	chr8:111811884..111813878-chr8:111822855..111824615,2	K562	blood:
4	chr8:111799556..111802962-chr8:111805139..111808019,3	MCF-7	breast:

Extended variants
information (count: 1041 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1041 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566987916	chr8:111792842-111792843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538927047	chr8:111792859-111792860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182103687	chr8:111792862-111792863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534027146	chr8:111792867-111792868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574862208	chr8:111792868-111792869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543816112	chr8:111792872-111792873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554318520	chr8:111792873-111792874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574469148	chr8:111792891-111792892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150804494	chr8:111792924-111792925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560277546	chr8:111792936-111792937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532374111	chr8:111792974-111792975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139442862	chr8:111792976-111792977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562786728	chr8:111792996-111792997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530886043	chr8:111793005-111793006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74966237	chr8:111793047-111793048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186207516	chr8:111793100-111793101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78436436	chr8:111793126-111793127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189666316	chr8:111793142-111793143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566698783	chr8:111793148-111793149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181258544	chr8:111793208-111793209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4545070	chr8:111793253-111793254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550694227	chr8:111793309-111793310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4568590	chr8:111793325-111793326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4637795	chr8:111793368-111793369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139917731	chr8:111793391-111793392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4613971	chr8:111793412-111793413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs149693868	chr8:111793422-111793423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185270020	chr8:111793443-111793444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574381894	chr8:111793474-111793475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533861993	chr8:111793498-111793499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190528788	chr8:111793530-111793531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577077273	chr8:111793608-111793609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546029879	chr8:111793611-111793612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562720177	chr8:111793620-111793621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145491178	chr8:111793638-111793639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541793501	chr8:111793697-111793698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570351596	chr8:111793711-111793712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183816579	chr8:111793727-111793728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114659854	chr8:111793735-111793736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370545565	chr8:111793784-111793785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560225141	chr8:111793802-111793803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188360907	chr8:111793833-111793834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147784281	chr8:111793843-111793844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373268298	chr8:111793846-111793847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192411033	chr8:111793862-111793863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77821995	chr8:111793943-111793944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538512839	chr8:111793953-111793954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548627144	chr8:111793972-111793973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148828198	chr8:111794015-111794016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114177983	chr8:111794017-111794018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	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
Testicular cancer	18059402	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
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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111788600-111826200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:111802400-111802800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:111802800-111803200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:111803200-111804000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:111803200-111804400	Enhancers	Fetal Intestine Large	intestine
6	chr8:111803400-111804200	Enhancers	Fetal Intestine Small	intestine
7	chr8:111804000-111804400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:111814600-111815200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:111814600-111815200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:111814800-111815400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:111815000-111815200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:111815000-111815400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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