Variant report

Variant	esv3469816
Chromosome Location	chr5:120649423-120652432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:120650781-120651061	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr5:120650738-120651081	IMR90	lung:	n/a	n/a
3	CEBPB	chr5:120650883-120651016	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr5:120650749-120651103	K562	blood:	n/a	n/a
5	CEBPB	chr5:120650738-120651104	HepG2	liver:	n/a	n/a
6	CEBPB	chr5:120650741-120651097	A549	lung:	n/a	n/a
7	FOS	chr5:120651613-120651839	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr5:120651441-120651918	HUVEC	blood vessel:	n/a	n/a
9	FOS	chr5:120651541-120651833	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr5:120651551-120651833	MCF10A-Er-Src	breast:	n/a	n/a
11	GATA1	chr5:120651192-120651984	PBDE	blood:	n/a	n/a
12	GATA2	chr5:120651176-120651935	HUVEC	blood vessel:	n/a	n/a
13	IRF1	chr5:120650386-120650461	K562	blood:	n/a	n/a
14	JUND	chr5:120649459-120649589	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr5:120651551-120651588	HUVEC	blood vessel:	n/a	n/a
16	RUNX3	chr5:120649993-120650273	GM12878	blood:	n/a	n/a
17	SP1	chr5:120651475-120651913	HCT-116	colon:	n/a	n/a
18	SPI1	chr5:120650087-120650308	GM12878	blood:	n/a	n/a
19	STAT3	chr5:120650879-120651026	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr5:120650274-120650521	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FTMT-2	chr5:120649672-120649899	ENSG00000229855.4
2	lnc-FTMT-2	chr5:120649656-120649899	ENSG00000229855.4

No data

Variant related genes	Relation type
ENSG00000229855	TF binding region

Extended variants
information (count: 137 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542402030	chr5:120649433-120649434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs554300627	chr5:120649458-120649459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs183019803	chr5:120649463-120649464	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs540491690	chr5:120649478-120649479	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs565151472	chr5:120649489-120649490	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs532521285	chr5:120649490-120649491	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs371840757	chr5:120649514-120649515	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs62379950	chr5:120649523-120649524	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563862132	chr5:120649528-120649529	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs562967626	chr5:120649549-120649550	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs530360071	chr5:120649553-120649554	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs62379951	chr5:120649567-120649568	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567025964	chr5:120649605-120649606	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79664959	chr5:120649636-120649637	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561889297	chr5:120649643-120649644	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531519069	chr5:120649682-120649683	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs552804418	chr5:120649767-120649768	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs187066125	chr5:120649770-120649771	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs189918757	chr5:120649777-120649778	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs145571163	chr5:120649850-120649851	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs568617971	chr5:120649903-120649904	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148887940	chr5:120649921-120649922	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs3899860	chr5:120649970-120649971	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554363988	chr5:120650019-120650020	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572666705	chr5:120650030-120650031	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143550202	chr5:120650032-120650033	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558793675	chr5:120650055-120650056	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577216193	chr5:120650074-120650075	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182243333	chr5:120650091-120650092	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562831840	chr5:120650116-120650117	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530222629	chr5:120650126-120650127	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376507678	chr5:120650164-120650165	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375799236	chr5:120650186-120650187	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542317555	chr5:120650189-120650190	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76491722	chr5:120650221-120650222	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527873385	chr5:120650234-120650235	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530911488	chr5:120650249-120650250	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74725303	chr5:120650260-120650261	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571113845	chr5:120650285-120650286	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531867407	chr5:120650300-120650301	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550162060	chr5:120650374-120650375	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568484309	chr5:120650409-120650410	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs3866711	chr5:120650485-120650486	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs142258908	chr5:120650513-120650514	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566577918	chr5:120650539-120650540	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533988446	chr5:120650554-120650555	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10059944	chr5:120650569-120650570	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547381435	chr5:120650603-120650604	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188016256	chr5:120650622-120650623	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556618604	chr5:120650637-120650638	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120649200-120652200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:120649600-120651800	Enhancers	Dnd41	blood
3	chr5:120651000-120652200	Enhancers	Hela-S3	cervix
4	chr5:120651800-120654200	Weak transcription	Dnd41	blood
5	chr5:120652200-120653000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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