Variant report

Variant	esv2761446
Chromosome Location	chr8:90158102-90202984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90197316..90199111-chr8:90201363..90203409,2	MCF-7	breast:
2	chr8:90188779..90190304-chr8:90190359..90192960,2	MCF-7	breast:
3	chr8:90197316..90199111-chr8:90201363..90203409,2	MCF-7	breast:
4	chr8:90188779..90190304-chr8:90190359..90192960,2	MCF-7	breast:

Extended variants
information (count: 389 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183232395	chr8:90162237-90162238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561861398	chr8:90162259-90162260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558398580	chr8:90162275-90162276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187921589	chr8:90162312-90162313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74457469	chr8:90162313-90162314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs318327	chr8:90162326-90162327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs146582625	chr8:90162338-90162339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544642304	chr8:90162341-90162342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533549888	chr8:90162357-90162358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563391364	chr8:90162361-90162362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530843760	chr8:90162362-90162363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551920693	chr8:90162373-90162374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554389121	chr8:90162474-90162475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7814624	chr8:90162479-90162480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs145016649	chr8:90162504-90162505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62532481	chr8:90162526-90162527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs376900599	chr8:90162558-90162559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371519259	chr8:90162629-90162630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568194239	chr8:90162635-90162636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs118186802	chr8:90162659-90162660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556924265	chr8:90162660-90162661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569413910	chr8:90162703-90162704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146786212	chr8:90162715-90162716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558513833	chr8:90162726-90162727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192538283	chr8:90162773-90162774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117072941	chr8:90162783-90162784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534437558	chr8:90162838-90162839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73692743	chr8:90162871-90162872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs574084815	chr8:90162885-90162886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34750999	chr8:90162886-90162887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs398095947	chr8:90162887-90162888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369597735	chr8:90162920-90162921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544241922	chr8:90162921-90162922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142167785	chr8:90162949-90162950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144455930	chr8:90162956-90162957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71260279	chr8:90162959-90162960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562917940	chr8:90162965-90162966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575421832	chr8:90163004-90163005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35069225	chr8:90163018-90163019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2923309	chr8:90163026-90163027	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564074163	chr8:90163033-90163034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528267135	chr8:90163138-90163139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184122893	chr8:90163148-90163149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561586559	chr8:90163165-90163166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377405736	chr8:90163169-90163170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528997455	chr8:90163178-90163179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370643898	chr8:90163212-90163213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28638444	chr8:90163213-90163214	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187954962	chr8:90163217-90163218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529767165	chr8:90163218-90163219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90162200-90163400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:90163000-90163600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:90163400-90163800	Enhancers	H9 Cell Line	embryonic stem cell
4	chr8:90163400-90163800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:90163400-90164000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:90163400-90164000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:90163400-90164200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:90163400-90164200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:90163600-90163800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr8:90163800-90164200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:90174800-90175200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:90175200-90175600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:90175200-90175600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:90175200-90175600	ZNF genes & repeats	Pancreas	Pancrea
15	chr8:90184600-90185400	Enhancers	Hela-S3	cervix
16	chr8:90185000-90185400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:90185400-90187200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:90187200-90187600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:90188800-90191000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr8:90189600-90190400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:90190200-90190800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr8:90191000-90191200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr8:90191200-90191600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:90201200-90202000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:90201600-90202000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:90202800-90213400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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