Variant report

Variant	esv3354986
Chromosome Location	chr5:147549159-147550307
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	FOS	chr5:147549792-147550055	MCF10A-Er-Src	breast:	n/a	chr5:147549881-147549891 chr5:147549881-147549891 chr5:147549881-147549891 chr5:147549880-147549892 chr5:147549881-147549890 chr5:147549881-147549891
2	FOS	chr5:147549805-147550025	MCF10A-Er-Src	breast:	n/a	chr5:147549881-147549891 chr5:147549881-147549891 chr5:147549881-147549891 chr5:147549880-147549892 chr5:147549881-147549890 chr5:147549881-147549891
3	FOS	chr5:147549717-147549918	MCF10A-Er-Src	breast:	n/a	chr5:147549881-147549891 chr5:147549881-147549891 chr5:147549881-147549891 chr5:147549880-147549892 chr5:147549881-147549890 chr5:147549881-147549891
4	GATA3	chr5:147550267-147550288	SH-SY5Y	brain:	n/a	n/a
5	JUND	chr5:147549872-147549960	HepG2	liver:	n/a	chr5:147549881-147549891 chr5:147549881-147549891 chr5:147549881-147549891 chr5:147549880-147549892 chr5:147549881-147549890 chr5:147549881-147549891
6	MAFK	chr5:147549992-147550244	HepG2	liver:	n/a	chr5:147550131-147550146 chr5:147550130-147550144
7	MAFK	chr5:147550087-147550172	HepG2	liver:	n/a	chr5:147550131-147550146 chr5:147550130-147550144
8	MXI1	chr5:147550274-147550339	GM12878	blood:	n/a	n/a
9	STAT3	chr5:147549015-147549331	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147548616..147550600-chr5:147763434..147764997,2	MCF-7	breast:

Variant related genes	Relation type
SPINK14	TF binding region
ENSG00000145868	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4269285	chr5:147549163-147549164	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186322873	chr5:147549215-147549216	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs368371866	chr5:147549237-147549238	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs115028758	chr5:147549255-147549256	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs371126748	chr5:147549282-147549283	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs534179773	chr5:147549319-147549320	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139752932	chr5:147549328-147549329	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200025569	chr5:147549404-147549405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570875740	chr5:147549418-147549419	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190384604	chr5:147549434-147549435	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377258254	chr5:147549439-147549440	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182893833	chr5:147549464-147549465	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs150091808	chr5:147549467-147549468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113568126	chr5:147549468-147549469	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573039024	chr5:147549492-147549493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186339954	chr5:147549500-147549501	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs10634880	chr5:147549507-147549508	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200916565	chr5:147549508-147549509	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201665389	chr5:147549512-147549513	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs199896329	chr5:147549513-147549514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201228404	chr5:147549514-147549515	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs202242427	chr5:147549515-147549516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371403718	chr5:147549528-147549529	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs66736542	chr5:147549529-147549530	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554465769	chr5:147549530-147549531	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs10634881	chr5:147549539-147549540	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs368952322	chr5:147549540-147549541	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372587446	chr5:147549546-147549547	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs57006073	chr5:147549571-147549572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs9885451	chr5:147549591-147549592	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs7703690	chr5:147549610-147549611	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs12189295	chr5:147549612-147549613	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565297941	chr5:147549629-147549630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12187768	chr5:147549631-147549632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs7727191	chr5:147549637-147549638	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs146261236	chr5:147549642-147549643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12188750	chr5:147549649-147549650	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12187769	chr5:147549657-147549658	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200119330	chr5:147549664-147549665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs191665148	chr5:147549665-147549666	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201755932	chr5:147549732-147549733	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374908374	chr5:147549734-147549735	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376416343	chr5:147549736-147549737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs13328140	chr5:147549738-147549739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs144029899	chr5:147549749-147549750	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs60753005	chr5:147549759-147549760	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376292138	chr5:147549760-147549761	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs35788339	chr5:147549763-147549764	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369150340	chr5:147549764-147549765	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111814689	chr5:147549774-147549775	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Intellectual disability	22102821	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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147549800-147550000	Enhancers	Fetal Intestine Large	intestine

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