Variant report

Variant	nsv968171
Chromosome Location	chr5:43665149-43674339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr5:43666157-43666633	A549	lung:	n/a	n/a
2	HEY1	chr5:43667052-43667341	K562	blood:	n/a	n/a
3	MYC	chr5:43665853-43665964	MCF-7	breast:	n/a	n/a
4	NR2F2	chr5:43665347-43665684	K562	blood:	n/a	n/a
5	PAX5	chr5:43666208-43666874	GM12878	blood:	n/a	n/a
6	PAX5	chr5:43666352-43666677	GM12878	blood:	n/a	n/a
7	PAX5	chr5:43666408-43666733	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:43666901-43667331	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:43666715-43667193	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:43673336-43673413	MCF-7	breast:	n/a	n/a
11	POLR2A	chr5:43666914-43667230	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr5:43666965-43667321	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr5:43666714-43666894	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:43667050-43667074	A549	lung:	n/a	n/a
15	POLR2A	chr5:43666904-43667309	GM12891	blood:	n/a	n/a
16	POLR2A	chr5:43666906-43667155	GM12878	blood:	n/a	n/a
17	POLR2A	chr5:43666912-43667328	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr5:43667137-43667322	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr5:43666685-43666888	GM12878	blood:	n/a	n/a
20	POU2F2	chr5:43667006-43667335	GM12878	blood:	n/a	n/a
21	SPI1	chr5:43669133-43669584	GM12878	blood:	n/a	n/a
22	ZBTB33	chr5:43666966-43667367	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAIP1-3	chr5:43666867-43667334	NONHSAT101327
2	lnc-PAIP1-3	chr5:43666868-43667334	NONHSAT101328

No data

Variant related genes	Relation type
NNT	TF binding region
RPL29P12	TF binding region

Extended variants
information (count: 492 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574349052	chr5:43665164-43665165	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540232905	chr5:43665178-43665179	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187018084	chr5:43665222-43665223	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs374226590	chr5:43665223-43665224	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs368586089	chr5:43665229-43665230	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs7702621	chr5:43665238-43665239	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs62367651	chr5:43665285-43665286	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146135490	chr5:43665317-43665318	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs372331430	chr5:43665319-43665320	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs11313047	chr5:43665321-43665322	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs62367652	chr5:43665323-43665324	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs71629186	chr5:43665342-43665343	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs531974346	chr5:43665345-43665346	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs183945877	chr5:43665351-43665352	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs562371703	chr5:43665363-43665364	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs569780732	chr5:43665403-43665404	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs188504182	chr5:43665422-43665423	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs527962874	chr5:43665543-43665544	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs546636246	chr5:43665563-43665564	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs566510541	chr5:43665584-43665585	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs111796954	chr5:43665593-43665594	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs552299251	chr5:43665637-43665638	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs568847406	chr5:43665664-43665665	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs538052798	chr5:43665688-43665689	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs554294407	chr5:43665691-43665692	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs568033255	chr5:43665700-43665701	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs533801426	chr5:43665720-43665721	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs553634786	chr5:43665721-43665722	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs200630747	chr5:43665722-43665723	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs376682663	chr5:43665724-43665725	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs185649478	chr5:43665764-43665765	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs190508934	chr5:43665788-43665789	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs367940605	chr5:43665797-43665798	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs180919071	chr5:43665807-43665808	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183612441	chr5:43665812-43665813	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542431059	chr5:43665813-43665814	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562230217	chr5:43665819-43665820	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188277629	chr5:43665834-43665835	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111320166	chr5:43665840-43665841	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527875571	chr5:43665842-43665843	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573031514	chr5:43665859-43665860	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541776618	chr5:43665860-43665861	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182403200	chr5:43665867-43665868	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181411788	chr5:43665871-43665872	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79775976	chr5:43665881-43665882	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186455455	chr5:43665896-43665897	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532171330	chr5:43665898-43665899	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113752239	chr5:43665929-43665930	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190070135	chr5:43665930-43665931	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181651070	chr5:43665933-43665934	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Bladder cancer	21909424	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43621800-43667400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:43639200-43665400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr5:43640000-43665400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr5:43642800-43665800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:43643400-43665800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:43643600-43665200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:43644800-43666400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr5:43650200-43685400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr5:43650400-43665800	Weak transcription	Colonic Mucosa	Colon
10	chr5:43650600-43673000	Weak transcription	Right Ventricle	heart
11	chr5:43650800-43673200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:43650800-43676200	Weak transcription	Brain Anterior Caudate	brain
13	chr5:43651000-43665800	Weak transcription	Placenta	Placenta
14	chr5:43651800-43666400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:43652200-43666000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:43652400-43665600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:43653000-43675600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:43653400-43665800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:43653400-43674200	Weak transcription	HSMMtube	muscle
20	chr5:43657000-43668400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr5:43657000-43674400	Weak transcription	Pancreas	Pancrea
22	chr5:43657600-43676200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr5:43657600-43695200	Weak transcription	K562	blood
24	chr5:43658600-43665800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:43659400-43696800	Weak transcription	Gastric	stomach
26	chr5:43659600-43675400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:43659600-43678200	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:43659600-43680400	Weak transcription	Psoas Muscle	Psoas
29	chr5:43659600-43706200	Weak transcription	Small Intestine	intestine
30	chr5:43659600-43710000	Weak transcription	Ovary	ovary
31	chr5:43659800-43665800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:43659800-43665800	Weak transcription	Fetal Intestine Small	intestine
33	chr5:43660000-43665800	Weak transcription	Brain Germinal Matrix	brain
34	chr5:43660000-43685600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:43660200-43684800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:43660800-43666400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:43661000-43665800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:43661000-43665800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:43661000-43665800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:43661000-43665800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:43661000-43665800	Weak transcription	Fetal Intestine Large	intestine
42	chr5:43661000-43665800	Weak transcription	Fetal Stomach	stomach
43	chr5:43661000-43665800	Weak transcription	Lung	lung
44	chr5:43661000-43665800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:43661000-43665800	Weak transcription	Thymus	Thymus
46	chr5:43661000-43665800	Weak transcription	Spleen	Spleen
47	chr5:43661000-43666000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:43661000-43666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:43661000-43666000	Weak transcription	Aorta	Aorta
50	chr5:43661000-43666200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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