Variant report

Variant	nsv964324
Chromosome Location	chr4:153143531-153149109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr4:153144653-153144916	K562	blood:	n/a	n/a
2	JUND	chr4:153146924-153147030	H1-hESC	embryonic stem cell:	n/a	n/a
3	KAP1	chr4:153144759-153144975	HEK293	kidney:	n/a	n/a
4	MAFF	chr4:153146072-153146336	HepG2	liver:	n/a	n/a
5	MAFF	chr4:153146143-153146315	K562	blood:	n/a	n/a
6	MAFK	chr4:153146152-153146287	IMR90	lung:	n/a	chr4:153146189-153146209
7	MAFK	chr4:153146052-153146355	HepG2	liver:	n/a	chr4:153146189-153146209
8	MAFK	chr4:153146151-153146257	K562	blood:	n/a	chr4:153146189-153146209
9	MAFK	chr4:153146043-153146370	HepG2	liver:	n/a	chr4:153146189-153146209
10	MYC	chr4:153144778-153144821	K562	blood:	n/a	n/a
11	POLR2A	chr4:153147654-153147765	GM12878	blood:	n/a	n/a
12	RCOR1	chr4:153144702-153144718	K562	blood:	n/a	n/a
13	RCOR1	chr4:153144576-153144929	K562	blood:	n/a	n/a
14	SETDB1	chr4:153144749-153145126	U2OS	brain:	n/a	n/a
15	STAT3	chr4:153148638-153148728	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr4:153145722-153145862	MCF10A-Er-Src	breast:	n/a	chr4:153145829-153145837
17	TAL1	chr4:153144709-153144928	K562	blood:	n/a	n/a
18	TBL1XR1	chr4:153144639-153144836	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:153141586..153143528-chr4:153147144..153148904,2	K562	blood:
2	chr4:153141211..153143744-chr4:153146248..153150036,3	K562	blood:
3	chr4:153145376..153146915-chr4:153148881..153150798,2	MCF-7	breast:
4	chr4:153145376..153146915-chr4:153148881..153150798,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXW7-1	chr4:153146375-153146602	NONHSAT098793
2	lnc-FBXW7-1	chr4:153146983-153147104	NONHSAT098793
3	lnc-FBXW7-1	chr4:153146396-153146551	XLOC_004127
4	lnc-FBXW7-1	chr4:153143620-153143911	XLOC_004127
5	lnc-FBXW7-1	chr4:153146983-153147022	XLOC_004127
6	lnc-FBXW7-1	chr4:153146396-153146602	XLOC_004127

No data

Variant related genes	Relation type
ENSG00000251377	TF binding region
ENSG00000266244	TF binding region
ENSG00000266244	chromatin interactions
ENSG00000251377	chromatin interactions

Extended variants
information (count: 226 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531818037	chr4:153143536-153143537	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs549972888	chr4:153143543-153143544	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs142747463	chr4:153143552-153143553	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs535414457	chr4:153143600-153143601	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs553761654	chr4:153143601-153143602	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566025051	chr4:153143615-153143616	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs150617867	chr4:153143627-153143628	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs140073291	chr4:153143637-153143638	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs114894452	chr4:153143672-153143673	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs546788171	chr4:153143753-153143754	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs181552746	chr4:153143777-153143778	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs555937115	chr4:153143787-153143788	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs574593995	chr4:153143790-153143791	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs557424095	chr4:153143808-153143809	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs146840954	chr4:153143825-153143826	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs560237641	chr4:153143828-153143829	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs527560642	chr4:153143834-153143835	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs545813092	chr4:153143837-153143838	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs3749541	chr4:153143877-153143878	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140684336	chr4:153143894-153143895	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs549952847	chr4:153143921-153143922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150040626	chr4:153144010-153144011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529388538	chr4:153144066-153144067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547387182	chr4:153144084-153144085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186212664	chr4:153144097-153144098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539833289	chr4:153144103-153144104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377326358	chr4:153144124-153144125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190730800	chr4:153144167-153144168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570329297	chr4:153144182-153144183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532652244	chr4:153144240-153144241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182837429	chr4:153144254-153144255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145380552	chr4:153144265-153144266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551227205	chr4:153144266-153144267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574581260	chr4:153144358-153144359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35402653	chr4:153144363-153144364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186557140	chr4:153144368-153144369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114428930	chr4:153144375-153144376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377744390	chr4:153144382-153144383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190761835	chr4:153144389-153144390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149220223	chr4:153144406-153144407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576298000	chr4:153144439-153144440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554652864	chr4:153144461-153144462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369473091	chr4:153144463-153144464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143439738	chr4:153144522-153144523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561599155	chr4:153144540-153144541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529328152	chr4:153144547-153144548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547449903	chr4:153144582-153144583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114736244	chr4:153144598-153144599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533127241	chr4:153144633-153144634	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs551760210	chr4:153144661-153144662	Weak transcription	TF binding region	1 gene(s)	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
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
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
Breast cancer	21785460	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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:153141600-153143600	Enhancers	Primary T cells fromperipheralblood	blood
2	chr4:153141600-153143600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr4:153142000-153143600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:153142000-153145400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:153142600-153143600	Enhancers	Primary T cells from cord blood	blood
6	chr4:153142800-153143600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr4:153143000-153143600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr4:153143000-153143600	Enhancers	Dnd41	blood
9	chr4:153143800-153144000	Enhancers	Stomach Mucosa	stomach
10	chr4:153144200-153145200	Weak transcription	Stomach Mucosa	stomach
11	chr4:153144800-153146400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:153145200-153146000	Enhancers	Stomach Mucosa	stomach
13	chr4:153145200-153146200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:153145200-153146600	Enhancers	Fetal Intestine Large	intestine
15	chr4:153145200-153146600	Enhancers	Fetal Intestine Small	intestine
16	chr4:153145400-153146600	Enhancers	Fetal Thymus	thymus
17	chr4:153145600-153145800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:153145600-153146400	Enhancers	Fetal Kidney	kidney
19	chr4:153145800-153147600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:153146400-153147000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr4:153146600-153150000	Weak transcription	Fetal Thymus	thymus
22	chr4:153147000-153150400	Weak transcription	H9 Cell Line	embryonic stem cell

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