Variant report

Variant	esv3470799
Chromosome Location	chr5:166724240-166729863
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	CTCF	chr5:166725460-166725516	GM20000	blood:	n/a	n/a
2	E2F4	chr5:166724160-166724344	MCF10A-Er-Src	breast:	n/a	n/a
3	FOXA1	chr5:166724552-166724771	HepG2	liver:	n/a	n/a
4	FOXA2	chr5:166725499-166726195	A549	lung:	n/a	n/a
5	FOXA2	chr5:166725676-166725996	A549	lung:	n/a	n/a
6	HEY1	chr5:166724534-166724757	HepG2	liver:	n/a	chr5:166724595-166724604
7	HEY1	chr5:166724604-166724726	HepG2	liver:	n/a	n/a
8	POLR2A	chr5:166724598-166724718	HepG2	liver:	n/a	n/a
9	POLR2A	chr5:166728146-166728305	H1-hESC	embryonic stem cell:	n/a	n/a
10	TEAD4	chr5:166724748-166725030	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PANK3-8	chr5:166724468-166724555	ENSG00000254297.1

Variant related genes	Relation type
ENSG00000254365	TF binding region

Extended variants
information (count: 239 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183249910	chr5:166724240-166724241	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs561600073	chr5:166724271-166724272	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs528895325	chr5:166724272-166724273	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs139185538	chr5:166724319-166724320	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs535580393	chr5:166724374-166724375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570390219	chr5:166724409-166724410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113495069	chr5:166724460-166724461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549078619	chr5:166724491-166724492	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs552864870	chr5:166724614-166724615	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs571030079	chr5:166724627-166724628	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs187960219	chr5:166724642-166724643	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs199930219	chr5:166724644-166724645	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs200909257	chr5:166724682-166724683	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs35827675	chr5:166724727-166724728	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs201722034	chr5:166724751-166724752	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs201978070	chr5:166724773-166724774	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs35758653	chr5:166724804-166724805	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs576726742	chr5:166724805-166724806	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs547088976	chr5:166724811-166724812	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs568447107	chr5:166724838-166724839	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs112587352	chr5:166724843-166724844	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs113885100	chr5:166724848-166724849	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs575191373	chr5:166724885-166724886	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs556267322	chr5:166724896-166724897	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs539356520	chr5:166724964-166724965	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs574465523	chr5:166724979-166724980	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs573015878	chr5:166724997-166724998	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs111632756	chr5:166725092-166725093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72645738	chr5:166725110-166725111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs573754566	chr5:166725114-166725115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561328045	chr5:166725126-166725127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544270132	chr5:166725129-166725130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573432550	chr5:166725143-166725144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562479452	chr5:166725146-166725147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12055340	chr5:166725162-166725163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192050464	chr5:166725177-166725178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184468473	chr5:166725180-166725181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74936130	chr5:166725218-166725219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200403505	chr5:166725250-166725251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528718057	chr5:166725297-166725298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532347477	chr5:166725331-166725332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568588547	chr5:166725337-166725338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376445157	chr5:166725367-166725368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148069534	chr5:166725379-166725380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192905830	chr5:166725384-166725385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562607225	chr5:166725390-166725391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371132467	chr5:166725404-166725405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373679899	chr5:166725411-166725412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58150693	chr5:166725420-166725421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs184781994	chr5:166725424-166725425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	17603634	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:166720800-166724600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:166720800-166724600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:166720800-166724800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:166721000-166724400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:166721000-166724600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:166721000-166724600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:166721400-166724600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:166721600-166724600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:166722400-166724600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:166722600-166724400	Enhancers	NHLF	lung
11	chr5:166722600-166724600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:166722800-166724400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:166722800-166724600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:166722800-166729600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:166723000-166724400	Enhancers	NHDF-Ad	bronchial
16	chr5:166723200-166724400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:166723200-166724400	Enhancers	Small Intestine	intestine
18	chr5:166723400-166730800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:166723600-166724400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:166723600-166724600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:166723600-166724600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:166723800-166724600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:166723800-166724600	Enhancers	Hela-S3	cervix
24	chr5:166724000-166729000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:166724000-166729400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:166724000-166729600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:166724400-166727800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:166724600-166726200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:166724600-166727200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:166724600-166728000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:166724600-166729000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:166724600-166729800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:166724600-166730200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:166724600-166730200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:166724600-166730600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:166724600-166730600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:166724600-166731200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:166726200-166727000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr5:166727000-166728200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
40	chr5:166727200-166727400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:166727800-166728800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:166728000-166728200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:166728200-166728400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:166728200-166731000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr5:166728400-166730200	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr5:166728800-166729200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:166729000-166730200	Active TSS	H9 Cell Line	embryonic stem cell
48	chr5:166729000-166733000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr5:166729200-166729400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:166729400-166730200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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