Variant report

Variant	nsv968015
Chromosome Location	chr4:151987982-152016879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:152015418-152015792	HepG2	liver:	n/a	n/a
2	CEBPB	chr4:152005994-152006091	HepG2	liver:	n/a	chr4:152006068-152006079
3	CEBPB	chr4:152012300-152012482	HepG2	liver:	n/a	chr4:152012393-152012406
4	CEBPB	chr4:152015399-152015861	HepG2	liver:	n/a	n/a
5	CEBPB	chr4:152016090-152016408	HepG2	liver:	n/a	n/a
6	CEBPB	chr4:152012253-152012541	HepG2	liver:	n/a	chr4:152012393-152012406
7	CEBPB	chr4:152016194-152016351	IMR90	lung:	n/a	n/a
8	CTCF	chr4:151996167-151996215	GM10248	blood:	n/a	n/a
9	CTCF	chr4:151994080-151994230	GM12871	blood:	n/a	n/a
10	CUX1	chr4:152013747-152013865	K562	blood:	n/a	n/a
11	E2F4	chr4:152012269-152012556	MCF10A-Er-Src	breast:	n/a	n/a
12	EP300	chr4:152015408-152015783	HepG2	liver:	n/a	n/a
13	EP300	chr4:152015277-152015850	HepG2	liver:	n/a	n/a
14	EP300	chr4:151988513-151988719	GM12878	blood:	n/a	n/a
15	EP300	chr4:152015494-152015763	HepG2	liver:	n/a	n/a
16	FOS	chr4:152012276-152012482	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr4:151999249-151999360	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr4:152015728-152015769	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr4:152012381-152012558	MCF10A-Er-Src	breast:	n/a	chr4:152012518-152012527
20	FOS	chr4:152012288-152012501	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr4:151999248-151999480	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr4:152015743-152015869	MCF10A-Er-Src	breast:	n/a	n/a
23	FOXA1	chr4:152015360-152015846	HepG2	liver:	n/a	n/a
24	FOXA1	chr4:152012234-152012548	HepG2	liver:	n/a	chr4:152012376-152012388
25	FOXA1	chr4:152015314-152015833	HepG2	liver:	n/a	n/a
26	FOXA1	chr4:152015325-152015867	HepG2	liver:	n/a	n/a
27	FOXA1	chr4:152015233-152015917	HepG2	liver:	n/a	n/a
28	FOXA1	chr4:152012175-152012524	HepG2	liver:	n/a	chr4:152012376-152012388
29	FOXA1	chr4:152012217-152012500	HepG2	liver:	n/a	chr4:152012376-152012388
30	FOXA1	chr4:152012218-152012601	HepG2	liver:	n/a	chr4:152012376-152012388
31	FOXA2	chr4:152013687-152013920	HepG2	liver:	n/a	n/a
32	FOXA2	chr4:152012226-152012487	HepG2	liver:	n/a	chr4:152012376-152012388
33	FOXA2	chr4:152015292-152015752	HepG2	liver:	n/a	n/a
34	FOXA2	chr4:152015336-152015839	HepG2	liver:	n/a	n/a
35	HDAC2	chr4:152015377-152015680	HepG2	liver:	n/a	n/a
36	HDAC2	chr4:152015368-152015799	HepG2	liver:	n/a	n/a
37	HNF4A	chr4:152013660-152013886	HepG2	liver:	n/a	n/a
38	HNF4A	chr4:152015408-152015719	HepG2	liver:	n/a	n/a
39	JUND	chr4:151988567-151988705	K562	blood:	n/a	n/a
40	JUND	chr4:151988517-151988783	HepG2	liver:	n/a	n/a
41	MAFK	chr4:152015518-152015875	HepG2	liver:	n/a	n/a
42	MAFK	chr4:152016872-152017102	HepG2	liver:	n/a	chr4:152016935-152016949 chr4:152016936-152016952 chr4:152016936-152016951 chr4:152016936-152016947
43	MAFK	chr4:152015360-152015801	HepG2	liver:	n/a	n/a
44	MAX	chr4:152015280-152015852	HepG2	liver:	n/a	n/a
45	MAZ	chr4:152014557-152014601	HepG2	liver:	n/a	n/a
46	MBD4	chr4:152015299-152015744	HepG2	liver:	n/a	n/a
47	MXI1	chr4:152015432-152015811	HepG2	liver:	n/a	n/a
48	MXI1	chr4:152000196-152000314	K562	blood:	n/a	n/a
49	MYBL2	chr4:152015274-152015778	HepG2	liver:	n/a	n/a
50	MYC	chr4:152001853-152001904	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:152014032..152016953-chr4:152019134..152021451,4	K562	blood:
2	chr4:152015597..152018658-chr4:152020547..152022666,3	MCF-7	breast:
3	chr4:152012551..152014169-chr4:152017965..152020902,2	K562	blood:
4	chr4:151938847..151941392-chr4:152011929..152013807,2	K562	blood:
5	chr4:152003397..152007492-chr4:152019387..152022450,4	K562	blood:
6	chr4:151935781..151937731-chr4:152012627..152014650,2	K562	blood:
7	chr4:152013121..152019006-chr4:152019557..152023559,9	MCF-7	breast:
8	chr4:152009582..152011359-chr4:152020540..152022685,2	K562	blood:
9	chr4:152007253..152009012-chr4:152019977..152021952,2	MCF-7	breast:
10	chr4:152014282..152017170-chr4:152018969..152021953,3	K562	blood:
11	chr4:151936250..151938773-chr4:152003423..152005791,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPS3A	TF binding region
ENSG00000145425	chromatin interactions
ENSG00000198589	chromatin interactions
ENSG00000201264	chromatin interactions

Extended variants
information (count: 541 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:541 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564467087	chr4:151998621-151998622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7697992	chr4:151998622-151998623	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532164066	chr4:151998636-151998637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549812910	chr4:151998657-151998658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568207132	chr4:151998745-151998746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529373833	chr4:151998752-151998753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76845424	chr4:151998753-151998754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547941022	chr4:151998766-151998767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566155680	chr4:151998783-151998784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540082418	chr4:151998784-151998785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551789710	chr4:151998798-151998799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550747835	chr4:151998813-151998814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537830804	chr4:151998846-151998847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151188607	chr4:151998847-151998848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574564206	chr4:151998858-151998859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535220777	chr4:151998941-151998942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189445828	chr4:151998942-151998943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140315291	chr4:151998966-151998967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568997660	chr4:151998991-151998992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546034683	chr4:151998994-151998995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377490544	chr4:151999006-151999007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6535761	chr4:151999023-151999024	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575973526	chr4:151999056-151999057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543397528	chr4:151999074-151999075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372321601	chr4:151999161-151999162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561766015	chr4:151999189-151999190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529311579	chr4:151999194-151999195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547581155	chr4:151999219-151999220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs60613991	chr4:151999229-151999230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138121718	chr4:151999230-151999231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142325037	chr4:151999232-151999233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76055610	chr4:151999234-151999235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368315313	chr4:151999237-151999238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540391518	chr4:151999257-151999258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559848871	chr4:151999283-151999284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534711493	chr4:151999307-151999308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553008766	chr4:151999310-151999311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533358410	chr4:151999415-151999416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374036806	chr4:151999500-151999501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575617475	chr4:151999514-151999515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551990045	chr4:151999526-151999527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75344920	chr4:152003397-152003398	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs544518415	chr4:152003435-152003436	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs556497333	chr4:152003436-152003437	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs183751786	chr4:152003461-152003462	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs80001494	chr4:152003472-152003473	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs78077687	chr4:152003481-152003482	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs528210185	chr4:152003490-152003491	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs540403232	chr4:152003625-152003626	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs142233413	chr4:152003630-152003631	Inactive region	Chromatin interactive region	2 gene(s)	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
Intellectual disability	22102821	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151998600-151999600	Enhancers	NHEK	skin
2	chr4:152005600-152019400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:152008400-152009000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:152008400-152009200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:152008400-152009400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:152008400-152009400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:152008600-152009400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:152008800-152009400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:152009000-152013600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:152009400-152013800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:152009400-152020000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:152012000-152017200	Enhancers	HepG2	liver
13	chr4:152012400-152015000	Enhancers	Duodenum Mucosa	Duodenum
14	chr4:152012400-152015600	Enhancers	Fetal Intestine Large	intestine
15	chr4:152012600-152014400	Enhancers	Stomach Mucosa	stomach
16	chr4:152013200-152013400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:152013200-152013800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr4:152013200-152014600	Enhancers	Fetal Intestine Small	intestine
19	chr4:152013400-152014000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:152013400-152014600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr4:152013600-152014200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr4:152013600-152014400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:152013600-152014400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:152013800-152014400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:152013800-152014600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:152014000-152014400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:152014200-152014600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:152014400-152015200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:152014400-152020000	Weak transcription	Stomach Mucosa	stomach
30	chr4:152014400-152020400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:152014600-152014800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:152014600-152020000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:152014600-152020000	Weak transcription	Fetal Intestine Small	intestine
34	chr4:152015200-152016800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:152015600-152020000	Weak transcription	Fetal Intestine Large	intestine
36	chr4:152016800-152017000	Enhancers	GM12878-XiMat	blood
37	chr4:152016800-152017400	Enhancers	K562	blood
38	chr4:152016800-152019600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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