Variant report

Variant	nsv966255
Chromosome Location	chr4:15490773-15496105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:15492061-15492264	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr4:15490438-15490910	IMR90	lung:	n/a	chr4:15490631-15490644
3	CTCF	chr4:15494443-15494529	Lung_OC	lung:	n/a	n/a
4	KAP1	chr4:15492091-15493296	HEK293	kidney:	n/a	n/a
5	KAP1	chr4:15492123-15492485	U2OS	brain:	n/a	n/a
6	MYC	chr4:15490467-15490789	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr4:15494424-15494488	ProgFib	skin:	n/a	n/a
8	POLR2A	chr4:15494274-15494414	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr4:15493104-15493167	Gliobla	brain:	n/a	n/a
10	POLR2A	chr4:15494182-15494489	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr4:15494277-15494406	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr4:15490307-15491117	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr4:15494246-15494413	H1-hESC	embryonic stem cell:	n/a	n/a
14	SETDB1	chr4:15492376-15493330	U2OS	brain:	n/a	n/a
15	ZBTB33	chr4:15494237-15494490	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:15484757..15487117-chr4:15489258..15491846,2	MCF-7	breast:
2	chr4:15486404..15488431-chr4:15495017..15497202,2	K562	blood:
3	chr4:15479756..15482166-chr4:15489455..15493787,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXL5-10	chr4:15494353-15494596	NONHSAT095624

No data

Variant related genes	Relation type
ENSG00000249930	TF binding region
ENSG00000048342	chromatin interactions

Extended variants
information (count: 198 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35115287	chr4:15490788-15490789	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148089767	chr4:15490792-15490793	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs182662831	chr4:15490842-15490843	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561394457	chr4:15490850-15490851	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533296387	chr4:15490905-15490906	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs115076750	chr4:15490953-15490954	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540263279	chr4:15490987-15490988	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564090012	chr4:15491006-15491007	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533172241	chr4:15491033-15491034	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546842135	chr4:15491115-15491116	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575103310	chr4:15491158-15491159	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs188922984	chr4:15491209-15491210	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192551857	chr4:15491210-15491211	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs184357924	chr4:15491238-15491239	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370787621	chr4:15491278-15491279	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558777962	chr4:15491285-15491286	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs76138823	chr4:15491330-15491331	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs141762600	chr4:15491336-15491337	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540009653	chr4:15491340-15491341	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113320668	chr4:15491386-15491387	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs553192836	chr4:15491398-15491399	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572964133	chr4:15491555-15491556	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373009915	chr4:15491586-15491587	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577082712	chr4:15491710-15491711	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566229023	chr4:15491711-15491712	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs150601385	chr4:15491801-15491802	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs62289344	chr4:15491811-15491812	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554899624	chr4:15491814-15491815	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs4423869	chr4:15491851-15491852	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs573200604	chr4:15491895-15491896	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187507317	chr4:15491954-15491955	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558007968	chr4:15491962-15491963	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs140489415	chr4:15491969-15491970	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569445568	chr4:15492008-15492009	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142820028	chr4:15492013-15492014	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs367976645	chr4:15492038-15492039	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542358738	chr4:15492072-15492073	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531789725	chr4:15492079-15492080	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs561907295	chr4:15492108-15492109	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530914079	chr4:15492109-15492110	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550734182	chr4:15492126-15492127	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs80301392	chr4:15492127-15492128	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs202157832	chr4:15492154-15492155	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs7439105	chr4:15492178-15492179	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs546747279	chr4:15492179-15492180	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs542132616	chr4:15492194-15492195	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs566735209	chr4:15492231-15492232	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs55771364	chr4:15492268-15492269	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs34652197	chr4:15492311-15492312	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs555458360	chr4:15492340-15492341	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15481600-15498600	Weak transcription	Liver	Liver
2	chr4:15481600-15519000	Weak transcription	Gastric	stomach
3	chr4:15482000-15491000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:15482000-15491800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:15482200-15519800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:15482600-15516600	Weak transcription	Brain Angular Gyrus	brain
7	chr4:15482600-15526400	Weak transcription	HMEC	breast
8	chr4:15482800-15518200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:15483600-15493400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:15483600-15498600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:15485000-15504800	Weak transcription	Ovary	ovary
12	chr4:15485200-15494400	Weak transcription	Fetal Heart	heart
13	chr4:15486600-15499800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:15487200-15498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:15487400-15570400	Weak transcription	Psoas Muscle	Psoas
16	chr4:15488600-15491000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:15488800-15492200	ZNF genes & repeats	Fetal Lung	lung
18	chr4:15489800-15491000	ZNF genes & repeats	Fetal Muscle Leg	muscle
19	chr4:15489800-15493000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr4:15490000-15491000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
21	chr4:15490000-15491200	Genic enhancers	Osteobl	bone
22	chr4:15490000-15491600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr4:15490200-15490800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:15490200-15490800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:15490200-15490800	ZNF genes & repeats	Colon Smooth Muscle	Colon
26	chr4:15490200-15491000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:15490200-15491000	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr4:15490200-15491600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:15490200-15491600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr4:15490200-15491600	Enhancers	NHDF-Ad	bronchial
31	chr4:15490200-15494200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:15490200-15498400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:15490400-15490800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:15490400-15490800	Strong transcription	Fetal Kidney	kidney
35	chr4:15490400-15492000	Weak transcription	Pancreas	Pancrea
36	chr4:15490400-15498800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:15490400-15519400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:15490400-15539600	Weak transcription	Esophagus	oesophagus
39	chr4:15490600-15490800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:15490600-15490800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:15490600-15490800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:15490600-15490800	Enhancers	NHLF	lung
43	chr4:15490600-15491000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:15490600-15491200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:15490600-15491800	Strong transcription	Fetal Stomach	stomach
46	chr4:15490600-15492400	Enhancers	Hela-S3	cervix
47	chr4:15490600-15492600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:15490600-15492600	Weak transcription	Left Ventricle	heart
49	chr4:15490600-15495000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr4:15490600-15497000	Weak transcription	Brain Substantia Nigra	brain

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