Variant report

Variant	nsv966528
Chromosome Location	chr4:85715067-85726976
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	CEBPB	chr4:85725375-85725658	IMR90	lung:	n/a	n/a
2	E2F4	chr4:85721392-85721716	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr4:85724798-85725162	SK-N-SH_RA	brain:	n/a	n/a
4	FOS	chr4:85724932-85725230	MCF10A-Er-Src	breast:	n/a	chr4:85725096-85725107 chr4:85725063-85725074
5	FOS	chr4:85721423-85721806	MCF10A-Er-Src	breast:	n/a	chr4:85721612-85721623
6	FOS	chr4:85721366-85721847	MCF10A-Er-Src	breast:	n/a	chr4:85721612-85721623
7	FOS	chr4:85720546-85720701	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr4:85721361-85721866	MCF10A-Er-Src	breast:	n/a	chr4:85721612-85721623
9	FOS	chr4:85724916-85725259	MCF10A-Er-Src	breast:	n/a	chr4:85725096-85725107 chr4:85725063-85725074
10	FOS	chr4:85720248-85721040	HUVEC	blood vessel:	n/a	chr4:85721019-85721031
11	FOS	chr4:85724864-85725304	HUVEC	blood vessel:	n/a	chr4:85725096-85725107 chr4:85725063-85725074
12	FOS	chr4:85721363-85721902	MCF10A-Er-Src	breast:	n/a	chr4:85721612-85721623
13	FOS	chr4:85724204-85724638	HUVEC	blood vessel:	n/a	n/a
14	FOS	chr4:85724923-85725248	MCF10A-Er-Src	breast:	n/a	chr4:85725096-85725107 chr4:85725063-85725074
15	FOS	chr4:85720542-85720820	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr4:85721343-85721804	HUVEC	blood vessel:	n/a	chr4:85721612-85721623
17	FOSL2	chr4:85721303-85721836	SK-N-SH	brain:	n/a	n/a
18	GATA2	chr4:85721427-85721750	HUVEC	blood vessel:	n/a	n/a
19	GATA2	chr4:85724270-85725211	HUVEC	blood vessel:	n/a	n/a
20	GATA3	chr4:85717326-85717384	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr4:85724707-85725383	SK-N-SH	brain:	n/a	n/a
22	GATA3	chr4:85724694-85725338	SK-N-SH	brain:	n/a	n/a
23	JUN	chr4:85720481-85720843	HUVEC	blood vessel:	n/a	n/a
24	JUN	chr4:85721393-85721763	HUVEC	blood vessel:	n/a	n/a
25	MAFK	chr4:85724955-85725561	IMR90	lung:	n/a	chr4:85725455-85725466 chr4:85725455-85725466
26	MYC	chr4:85724569-85724843	H1-hESC	embryonic stem cell:	n/a	n/a
27	MYC	chr4:85721361-85721724	MCF10A-Er-Src	breast:	n/a	n/a
28	MYC	chr4:85724447-85724546	HUVEC	blood vessel:	n/a	n/a
29	MYC	chr4:85715225-85715378	K562	blood:	n/a	n/a
30	MYC	chr4:85720543-85720666	HUVEC	blood vessel:	n/a	n/a
31	NFYA	chr4:85725883-85726031	GM12878	blood:	n/a	n/a
32	POLR2A	chr4:85716696-85716782	MCF-7	breast:	n/a	n/a
33	POLR2A	chr4:85720634-85720834	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr4:85721200-85721400	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr4:85717727-85717800	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr4:85716709-85716716	MCF-7	breast:	n/a	n/a
37	POLR2A	chr4:85720314-85720986	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr4:85721254-85721401	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr4:85722048-85722061	MCF-7	breast:	n/a	n/a
40	POLR2A	chr4:85724164-85724805	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr4:85720627-85720697	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr4:85720504-85720804	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr4:85716743-85716848	MCF-7	breast:	n/a	n/a
44	STAT3	chr4:85721362-85721806	MCF10A-Er-Src	breast:	n/a	chr4:85721569-85721578
45	STAT3	chr4:85721281-85721722	MCF10A-Er-Src	breast:	n/a	chr4:85721569-85721578
46	STAT3	chr4:85721359-85721763	MCF10A-Er-Src	breast:	n/a	chr4:85721569-85721578
47	STAT3	chr4:85720591-85720788	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr4:85720959-85720978	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr4:85720537-85720743	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr4:85716226-85716409	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:85713800..85716169-chr4:85718069..85720303,2	K562	blood:
2	chr4:85710281..85713058-chr4:85713146..85715661,2	K562	blood:
3	chr4:85710856..85713055-chr4:85713853..85715434,2	K562	blood:
4	chr4:85713800..85716169-chr4:85718069..85720303,2	K562	blood:
5	chr4:85708754..85711752-chr4:85713766..85715431,2	MCF-7	breast:

Variant related genes	Relation type
WDFY3	TF binding region
WDFY3-AS1	TF binding region

Extended variants
information (count: 448 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571109125	chr4:85715220-85715221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138509606	chr4:85715222-85715223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547358086	chr4:85715234-85715235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568437145	chr4:85715370-85715371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140300583	chr4:85715379-85715380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183121595	chr4:85715415-85715416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569265344	chr4:85715480-85715481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536805542	chr4:85715523-85715524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145299435	chr4:85715539-85715540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558342339	chr4:85715544-85715545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138039490	chr4:85715592-85715593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377414656	chr4:85715629-85715630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139234296	chr4:85715655-85715656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200026768	chr4:85715700-85715701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148407700	chr4:85715702-85715703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534603103	chr4:85715771-85715772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143975457	chr4:85715776-85715777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78715516	chr4:85715779-85715780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368619262	chr4:85715799-85715800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372362517	chr4:85715850-85715851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375474699	chr4:85715862-85715863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374359439	chr4:85715897-85715898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201184909	chr4:85715905-85715906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188203770	chr4:85715930-85715931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115949936	chr4:85715935-85715936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373609692	chr4:85715982-85715983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146395071	chr4:85716042-85716043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546376708	chr4:85716064-85716065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532377063	chr4:85716070-85716071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371586000	chr4:85716080-85716081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374955163	chr4:85716081-85716082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528742734	chr4:85716098-85716099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144442290	chr4:85716128-85716129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71597385	chr4:85716147-85716148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368939281	chr4:85716153-85716154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377154672	chr4:85716168-85716169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144017592	chr4:85716246-85716247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192382163	chr4:85716268-85716269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148282270	chr4:85716269-85716270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113733564	chr4:85716270-85716271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546005417	chr4:85716279-85716280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569296119	chr4:85716291-85716292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539539238	chr4:85716299-85716300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183691769	chr4:85716339-85716340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189488646	chr4:85716356-85716357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570293057	chr4:85716363-85716364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534541359	chr4:85716371-85716372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553198429	chr4:85716401-85716402	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375138351	chr4:85716496-85716497	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574667235	chr4:85716498-85716499	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85619200-85726000	Weak transcription	Hela-S3	cervix
2	chr4:85683800-85732000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr4:85684800-85725000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:85688800-85725600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:85689600-85717200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:85690000-85722000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:85690800-85725600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr4:85691000-85724800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:85691600-85718400	Strong transcription	Placenta	Placenta
10	chr4:85691800-85716800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:85695200-85718000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:85696400-85757000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:85697400-85772800	Weak transcription	Small Intestine	intestine
14	chr4:85698000-85724600	Strong transcription	Liver	Liver
15	chr4:85700000-85716200	Strong transcription	Adipose Nuclei	Adipose
16	chr4:85700200-85724600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:85700400-85716400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:85700400-85718000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:85701600-85783000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:85702200-85732200	Weak transcription	Spleen	Spleen
21	chr4:85702400-85716200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:85703800-85721800	Weak transcription	Gastric	stomach
23	chr4:85704200-85717600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:85704200-85722000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:85704200-85739800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:85704400-85722000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:85704600-85724400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:85705200-85721000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:85705200-85722000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:85705200-85722000	Weak transcription	Pancreas	Pancrea
31	chr4:85705200-85722800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:85705200-85725400	Weak transcription	Aorta	Aorta
33	chr4:85705200-85735200	Weak transcription	A549	lung
34	chr4:85705400-85770000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:85705800-85721800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:85707200-85725200	Weak transcription	Stomach Mucosa	stomach
37	chr4:85707400-85722000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr4:85708600-85731000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:85708600-85777400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:85708800-85721800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:85708800-85722000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr4:85708800-85741200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:85709000-85715200	Weak transcription	Fetal Brain Male	brain
44	chr4:85709000-85715200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:85709000-85717600	Weak transcription	NH-A	brain
46	chr4:85709000-85719800	Weak transcription	NHEK	skin
47	chr4:85709000-85721800	Weak transcription	Brain Germinal Matrix	brain
48	chr4:85709000-85721800	Weak transcription	Brain Substantia Nigra	brain
49	chr4:85709000-85721800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr4:85709000-85722000	Weak transcription	Colon Smooth Muscle	Colon

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