Variant report

Variant	esv3381326
Chromosome Location	chr5:60340145-60342093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr5:60341376-60341462	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F4	chr5:60341940-60342255	MCF10A-Er-Src	breast:	n/a	n/a
3	SETDB1	chr5:60340427-60340757	U2OS	brain:	n/a	n/a
4	STAT3	chr5:60341392-60341518	MCF10A-Er-Src	breast:	n/a	n/a
5	ZMIZ1	chr5:60341372-60341404	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60334340..60336285-chr5:60341216..60344077,2	K562	blood:
2	chr5:60308495..60310817-chr5:60337811..60340272,2	K562	blood:

Variant related genes	Relation type
NDUFAF2	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372981942	chr5:60340148-60340149	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530231782	chr5:60340235-60340236	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550378130	chr5:60340262-60340263	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs563814160	chr5:60340277-60340278	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs532872782	chr5:60340419-60340420	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs552577638	chr5:60340424-60340425	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs78904897	chr5:60340477-60340478	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs559990782	chr5:60340488-60340489	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs527412622	chr5:60340620-60340621	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs551718976	chr5:60340621-60340622	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs570131978	chr5:60340644-60340645	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs566087278	chr5:60340779-60340780	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs535057967	chr5:60340783-60340784	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs548390104	chr5:60340814-60340815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369781212	chr5:60340833-60340834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372336916	chr5:60340839-60340840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367629460	chr5:60340846-60340847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371892071	chr5:60340849-60340850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13163956	chr5:60340866-60340867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71606658	chr5:60340870-60340871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375098984	chr5:60340871-60340872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369608381	chr5:60340879-60340880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6449517	chr5:60340893-60340894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12520088	chr5:60340904-60340905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373754201	chr5:60340914-60340915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12514973	chr5:60340924-60340925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10042260	chr5:60340935-60340936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550094582	chr5:60340939-60340940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10036802	chr5:60340955-60340956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10039687	chr5:60340966-60340967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370702687	chr5:60340986-60340987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10039690	chr5:60340997-60340998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141207206	chr5:60340998-60340999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10062903	chr5:60341028-60341029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6871526	chr5:60341048-60341049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6449518	chr5:60341079-60341080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs70977821	chr5:60341109-60341110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189589286	chr5:60341127-60341128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10063039	chr5:60341179-60341180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575900712	chr5:60341267-60341268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538547584	chr5:60341286-60341287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111592263	chr5:60341354-60341355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182153711	chr5:60341355-60341356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75185203	chr5:60341451-60341452	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs568384019	chr5:60341483-60341484	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs535286833	chr5:60341511-60341512	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs375982413	chr5:60341515-60341516	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs200908611	chr5:60341525-60341526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143797111	chr5:60341531-60341532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140901703	chr5:60341532-60341533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Contiguous gene syndrome	19525295	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60323000-60347000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:60324600-60354000	Weak transcription	Primary T cells from cord blood	blood
3	chr5:60326000-60400800	Weak transcription	Left Ventricle	heart
4	chr5:60335600-60343800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:60339200-60343200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:60339400-60340600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:60339400-60340800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:60339800-60348200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:60340200-60340400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:60340200-60340600	Active TSS	Fetal Heart	heart
11	chr5:60340400-60340600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:60340400-60340600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr5:60340600-60343200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:60340600-60344200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:60340800-60342800	Weak transcription	Psoas Muscle	Psoas
16	chr5:60340800-60343600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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