Variant report

Variant	esv20192
Chromosome Location	chr3:528304-534054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:512741..514299-chr3:528430..530623,2	K562	blood:

Extended variants
information (count: 289 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373770360	chr3:528326-528327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200951101	chr3:528347-528348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71634791	chr3:528348-528349	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs9838856	chr3:528349-528350	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568020205	chr3:528358-528359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535458505	chr3:528361-528362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187913103	chr3:528376-528377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9846501	chr3:528390-528391	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547407547	chr3:528395-528396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563025726	chr3:528402-528403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9824315	chr3:528413-528414	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577369102	chr3:528422-528423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541285943	chr3:528440-528441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559632540	chr3:528531-528532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12634251	chr3:528532-528533	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs556143524	chr3:528536-528537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541847196	chr3:528582-528583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567099754	chr3:528608-528609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527665717	chr3:528613-528614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141840562	chr3:528618-528619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576305467	chr3:528650-528651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552085408	chr3:528673-528674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545220688	chr3:528677-528678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551414178	chr3:528708-528709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73817822	chr3:528709-528710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138095786	chr3:528753-528754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568386732	chr3:528755-528756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143597848	chr3:528757-528758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550631935	chr3:528771-528772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568855452	chr3:528785-528786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539471801	chr3:528808-528809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374496499	chr3:528845-528846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368575885	chr3:528874-528875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190212614	chr3:528882-528883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182869143	chr3:528895-528896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147200015	chr3:528904-528905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553227546	chr3:528937-528938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574825452	chr3:528961-528962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559134445	chr3:529015-529016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187507053	chr3:529026-529027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557374417	chr3:529028-529029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575555561	chr3:529031-529032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76377654	chr3:529039-529040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546240798	chr3:529086-529087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140385424	chr3:529088-529089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528268193	chr3:529133-529134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192323902	chr3:529194-529195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549146902	chr3:529239-529240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9311396	chr3:529246-529247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs142773704	chr3:529265-529266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	20164920	CNVD
Lung cancer	16618734	CNVD
Autism	18349135	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Intellectual disability	22045946	CNVD
Squamous cell cancer	19607727	CNVD
Gastric adenocarcinoma	19115996	CNVD
sporadic birth defects	19047251	CNVD
Mental retardation	17124404	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Sudden cardiac death	19188705	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Autism	22543975	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Tetralogy of Fallot	22912587	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	20685689	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:525800-529200	Weak transcription	Ovary	ovary
2	chr3:526800-533800	Weak transcription	Hela-S3	cervix
3	chr3:526800-543200	Weak transcription	Aorta	Aorta
4	chr3:528000-528800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:528200-528600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:528200-528800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:528200-529000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:528800-534000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:528800-534200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:529000-534200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:529200-529800	Enhancers	Ovary	ovary
12	chr3:533000-534200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:533800-534200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:533800-534200	Enhancers	Hela-S3	cervix
15	chr3:533800-535000	Enhancers	Fetal Intestine Large	intestine
16	chr3:534000-534200	Enhancers	GM12878-XiMat	blood
17	chr3:534000-534400	Enhancers	Liver	Liver
18	chr3:534000-534600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:534000-535000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr3:534000-535000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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