Variant report

Variant	nsv932949
Chromosome Location	chr5:60213689-60214460
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	POLR2A	chr5:60214268-60214301	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFAF2-1	chr5:60214122-60214254	ENSG00000233847.1

Variant related genes	Relation type
ERCC8	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188982159	chr5:60213700-60213701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537867904	chr5:60213710-60213711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191890880	chr5:60213730-60213731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577899005	chr5:60213744-60213745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139218655	chr5:60213961-60213962	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74405304	chr5:60213969-60213970	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573786611	chr5:60213984-60213985	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542375605	chr5:60214030-60214031	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4647089	chr5:60214073-60214074	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367632666	chr5:60214101-60214102	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561366032	chr5:60214109-60214110	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372212490	chr5:60214112-60214113	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113694747	chr5:60214122-60214123	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs4647088	chr5:60214128-60214129	Strong transcription Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545036754	chr5:60214141-60214142	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs565275111	chr5:60214156-60214157	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs375245148	chr5:60214162-60214163	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs113277991	chr5:60214179-60214180	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs367874889	chr5:60214189-60214190	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs143367518	chr5:60214191-60214192	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs528023398	chr5:60214250-60214251	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs372406262	chr5:60214254-60214255	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs548073037	chr5:60214259-60214260	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546403769	chr5:60214309-60214310	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs530332230	chr5:60214329-60214330	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs550375231	chr5:60214340-60214341	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs4647087	chr5:60214353-60214354	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537929274	chr5:60214363-60214364	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs184743153	chr5:60214391-60214392	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs571203558	chr5:60214396-60214397	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs149928831	chr5:60214408-60214409	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs189249793	chr5:60214411-60214412	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs532159634	chr5:60214442-60214443	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs554047732	chr5:60214449-60214450	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Autism	22495311	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60167800-60228200	Weak transcription	Psoas Muscle	Psoas
2	chr5:60175800-60239400	Weak transcription	NHEK	skin
3	chr5:60176400-60220400	Weak transcription	Esophagus	oesophagus
4	chr5:60177200-60239600	Weak transcription	HSMMtube	muscle
5	chr5:60177400-60232800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:60178000-60214200	Weak transcription	Fetal Kidney	kidney
7	chr5:60181000-60218800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:60181600-60230800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:60183400-60213800	Weak transcription	GM12878-XiMat	blood
10	chr5:60183400-60228000	Weak transcription	Small Intestine	intestine
11	chr5:60185600-60221200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:60187600-60223800	Weak transcription	HUVEC	blood vessel
13	chr5:60187600-60239600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:60187800-60239600	Weak transcription	Brain Angular Gyrus	brain
15	chr5:60188000-60216200	Weak transcription	Hela-S3	cervix
16	chr5:60188000-60223400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr5:60188600-60215600	Weak transcription	Fetal Heart	heart
18	chr5:60189400-60240000	Weak transcription	Spleen	Spleen
19	chr5:60189600-60213800	Weak transcription	Aorta	Aorta
20	chr5:60189600-60217200	Weak transcription	A549	lung
21	chr5:60189600-60224000	Weak transcription	Osteobl	bone
22	chr5:60189600-60239600	Weak transcription	Right Ventricle	heart
23	chr5:60189600-60240000	Weak transcription	Pancreas	Pancrea
24	chr5:60189800-60223600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:60189800-60225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:60189800-60225800	Weak transcription	Fetal Brain Female	brain
27	chr5:60190200-60224000	Weak transcription	Brain Germinal Matrix	brain
28	chr5:60191000-60227200	Weak transcription	Fetal Intestine Small	intestine
29	chr5:60191000-60232800	Weak transcription	Fetal Stomach	stomach
30	chr5:60193200-60227400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:60193200-60232800	Weak transcription	Lung	lung
32	chr5:60193200-60239800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:60194000-60214200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:60194600-60222800	Weak transcription	HMEC	breast
35	chr5:60198400-60213800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:60199600-60224400	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:60201600-60229800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:60201800-60214600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:60201800-60225600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr5:60202000-60213800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:60202000-60223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:60202000-60223400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr5:60202800-60223200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:60203000-60214000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr5:60205400-60213800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:60207600-60225400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr5:60209600-60215000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:60209800-60214800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:60209800-60214800	Strong transcription	Liver	Liver
50	chr5:60209800-60215400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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