Variant report

Variant	nsv964091
Chromosome Location	chr4:120255342-120290951
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	BATF	chr4:120288050-120288247	GM12878	blood:	n/a	n/a
2	CEBPB	chr4:120285474-120285684	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr4:120285518-120285636	IMR90	lung:	n/a	n/a
4	CTCF	chr4:120268012-120268063	GM20000	blood:	n/a	n/a
5	CTCF	chr4:120273040-120273127	GM20000	blood:	n/a	n/a
6	CTCF	chr4:120263136-120263142	Gliobla	brain:	n/a	n/a
7	CTCF	chr4:120276249-120276298	K562	blood:	n/a	n/a
8	CTCF	chr4:120277447-120277492	GM20000	blood:	n/a	n/a
9	CTCF	chr4:120273499-120273554	GM10248	blood:	n/a	n/a
10	CTCF	chr4:120256021-120256049	LNCaP	prostate:	n/a	n/a
11	CTCF	chr4:120261426-120261477	GM10266	blood:	n/a	n/a
12	CTCF	chr4:120257705-120257736	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr4:120287714-120287767	Lung_OC	lung:	n/a	n/a
14	CTCF	chr4:120261805-120261926	GM20000	blood:	n/a	n/a
15	CTCF	chr4:120279132-120279207	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr4:120272212-120272264	GM20000	blood:	n/a	n/a
17	FOS	chr4:120285307-120285914	MCF10A-Er-Src	breast:	n/a	chr4:120285615-120285624
18	FOS	chr4:120285296-120285809	MCF10A-Er-Src	breast:	n/a	chr4:120285615-120285624
19	FOS	chr4:120285311-120285809	MCF10A-Er-Src	breast:	n/a	chr4:120285615-120285624
20	FOS	chr4:120285415-120285653	MCF10A-Er-Src	breast:	n/a	chr4:120285615-120285624
21	FOSL2	chr4:120257500-120257873	HepG2	liver:	n/a	chr4:120257655-120257665 chr4:120257656-120257665 chr4:120257656-120257663
22	FOXA1	chr4:120261128-120261383	HepG2	liver:	n/a	chr4:120261256-120261268
23	FOXA1	chr4:120289922-120290320	HepG2	liver:	n/a	n/a
24	FOXA1	chr4:120289963-120290347	HepG2	liver:	n/a	n/a
25	FOXA1	chr4:120257505-120257816	HepG2	liver:	n/a	n/a
26	FOXA2	chr4:120290061-120290246	HepG2	liver:	n/a	n/a
27	FOXA2	chr4:120264318-120264583	A549	lung:	n/a	n/a
28	FOXA2	chr4:120264307-120264626	A549	lung:	n/a	n/a
29	FOXA2	chr4:120257526-120257858	A549	lung:	n/a	n/a
30	JUND	chr4:120257523-120257726	HepG2	liver:	n/a	chr4:120257655-120257665 chr4:120257656-120257665 chr4:120257656-120257663
31	JUND	chr4:120257510-120257736	HepG2	liver:	n/a	chr4:120257655-120257665 chr4:120257656-120257665 chr4:120257656-120257663
32	MYC	chr4:120256980-120257037	MCF-7	breast:	n/a	n/a
33	MYC	chr4:120285451-120285650	MCF10A-Er-Src	breast:	n/a	n/a
34	NR3C1	chr4:120257517-120257918	A549	lung:	n/a	n/a
35	NR3C1	chr4:120257492-120257721	A549	lung:	n/a	n/a
36	NR3C1	chr4:120257490-120257950	A549	lung:	n/a	n/a
37	NR3C1	chr4:120257494-120257812	A549	lung:	n/a	n/a
38	NR3C1	chr4:120257522-120257802	A549	lung:	n/a	n/a
39	PAX5	chr4:120273397-120273636	GM12878	blood:	n/a	chr4:120273475-120273492 chr4:120273476-120273494
40	PAX5	chr4:120273391-120273600	GM12878	blood:	n/a	chr4:120273475-120273492 chr4:120273476-120273494
41	PAX5	chr4:120281427-120281608	GM12878	blood:	n/a	n/a
42	PAX5	chr4:120273406-120273631	GM12878	blood:	n/a	chr4:120273475-120273492 chr4:120273476-120273494
43	PAX5	chr4:120273350-120273632	GM12878	blood:	n/a	chr4:120273475-120273492 chr4:120273476-120273494
44	POLR2A	chr4:120257701-120257837	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr4:120257829-120257959	GM12878	blood:	n/a	n/a
46	POLR2A	chr4:120261736-120261899	A549	lung:	n/a	n/a
47	POLR2A	chr4:120257853-120257874	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr4:120256948-120257034	HepG2	liver:	n/a	n/a
49	POLR2A	chr4:120274688-120274817	Gliobla	brain:	n/a	n/a
50	POLR2A	chr4:120274764-120275020	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
RNU4-33P	TF binding region
KLHL2P1	TF binding region

Extended variants
information (count: 1153 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1153 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558166418	chr4:120255363-120255364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553492794	chr4:120255384-120255385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540728482	chr4:120255400-120255401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560524738	chr4:120255433-120255434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115871355	chr4:120255485-120255486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201825016	chr4:120255513-120255514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192191351	chr4:120255520-120255521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561944869	chr4:120255556-120255557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530696916	chr4:120255597-120255598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376633404	chr4:120255609-120255610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565655994	chr4:120255620-120255621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184971731	chr4:120255628-120255629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546195321	chr4:120255638-120255639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368347337	chr4:120255646-120255647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71627788	chr4:120255728-120255729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535555707	chr4:120255821-120255822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10213158	chr4:120255829-120255830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs10213221	chr4:120255926-120255927	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs10213216	chr4:120255990-120255991	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs538528975	chr4:120255996-120255997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558533739	chr4:120256090-120256091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7440752	chr4:120256132-120256133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189382051	chr4:120256144-120256145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7689729	chr4:120256192-120256193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs377459274	chr4:120256198-120256199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574468954	chr4:120256209-120256210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34164497	chr4:120256215-120256216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574025157	chr4:120256293-120256294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369730652	chr4:120256316-120256317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563722119	chr4:120256346-120256347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11370860	chr4:120256426-120256427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397947958	chr4:120256433-120256434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7690338	chr4:120256468-120256469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs557291718	chr4:120256491-120256492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs5861426	chr4:120256506-120256507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544004205	chr4:120256512-120256513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563996335	chr4:120256536-120256537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181969768	chr4:120256537-120256538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533071341	chr4:120256552-120256553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11370859	chr4:120256586-120256587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397743037	chr4:120256588-120256589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539810812	chr4:120256606-120256607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185318063	chr4:120256662-120256663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189053323	chr4:120256676-120256677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182000039	chr4:120256681-120256682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371851206	chr4:120256734-120256735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3956464	chr4:120256764-120256765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs559463403	chr4:120256786-120256787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531896158	chr4:120256813-120256814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369637806	chr4:120256823-120256824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120251200-120257600	Weak transcription	Left Ventricle	heart
2	chr4:120251800-120258000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:120256800-120258000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr4:120256800-120259000	Enhancers	Spleen	Spleen
5	chr4:120257000-120257200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:120257000-120258400	Enhancers	HMEC	breast
7	chr4:120257600-120257800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr4:120257600-120258400	Enhancers	NHEK	skin
9	chr4:120257600-120259000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr4:120257800-120258400	Weak transcription	Left Ventricle	heart
11	chr4:120257800-120258600	Enhancers	HUVEC	blood vessel
12	chr4:120257800-120258600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr4:120258000-120258200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:120258000-120258400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr4:120258000-120259000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr4:120258200-120258600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:120258200-120259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:120258200-120259200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr4:120258600-120259000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr4:120258800-120259000	Enhancers	Left Ventricle	heart
21	chr4:120259000-120259400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr4:120262200-120264600	Weak transcription	HepG2	liver
23	chr4:120263200-120264000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:120264000-120264400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:120264400-120266400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:120264600-120264800	Enhancers	HepG2	liver
27	chr4:120266400-120275000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:120269000-120269200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:120269000-120269400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr4:120269200-120277600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:120269600-120293000	Weak transcription	Fetal Heart	heart
32	chr4:120273800-120274000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:120273800-120275200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:120274400-120275200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:120274400-120275400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:120274400-120275400	Enhancers	NHEK	skin
37	chr4:120274600-120274800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:120274800-120275200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:120274800-120275400	Enhancers	HMEC	breast
40	chr4:120275000-120275200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr4:120275400-120276600	Weak transcription	HMEC	breast
42	chr4:120276800-120277000	Enhancers	HMEC	breast
43	chr4:120276800-120277600	Enhancers	HSMM	muscle
44	chr4:120276800-120278000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr4:120277000-120277200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:120277600-120278000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:120277600-120278000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:120277800-120278000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:120278000-120278400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:120278000-120278400	Enhancers	Skeletal Muscle Female	skeletal muscle

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