Variant report

Variant	rs16850399
Chromosome Location	chr4:74921052-74921053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:74920920-74921149	K562	blood:	n/a	n/a
2	JUN	chr4:74920511-74924086	K562	blood:	n/a	chr4:74922486-74922496 chr4:74922487-74922496 chr4:74922691-74922700 chr4:74923067-74923076 chr4:74922488-74922495 chr4:74922692-74922699 chr4:74922624-74922634 chr4:74922624-74922634 chr4:74922690-74922699 chr4:74922487-74922495 chr4:74922691-74922699 chr4:74922485-74922497
3	JUN	chr4:74920930-74921406	K562	blood:	n/a	n/a
4	EP300	chr4:74920865-74923647	K562	blood:	n/a	chr4:74921185-74921199 chr4:74922690-74922699 chr4:74921187-74921201 chr4:74922487-74922496 chr4:74922169-74922183 chr4:74921186-74921200 chr4:74922691-74922700 chr4:74921174-74921188 chr4:74922486-74922495
5	TAL1	chr4:74920836-74921200	K562	blood:	n/a	n/a
6	RCOR1	chr4:74920971-74921120	K562	blood:	n/a	n/a
7	JUND	chr4:74920567-74921061	K562	blood:	n/a	n/a
8	TBL1XR1	chr4:74920623-74921253	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:74921023-74921073	HCM	heart:	n/a
2	chr4:74921023-74921073	H1-hESC	embryonic stem cell:	embryo
3	chr4:74921023-74921073	SKMC	muscle:	n/a
4	chr4:74921023-74921073	SAEC	small airway:	n/a
5	chr4:74921023-74921073	HIPEpiC	eye:	n/a
6	chr4:74921023-74921073	BJ	skin:	n/a
7	chr4:74921023-74921073	HAEpiC	amniotic membrane:	n/a
8	chr4:74921023-74921073	HRE	kidney:	n/a
9	chr4:74921023-74921073	RPTEC	kidney:	n/a
10	chr4:74921023-74921073	SK-N-MC	brain:	n/a
11	chr4:74921023-74921073	HepG2	liver:	n/a
12	chr4:74921023-74921073	HRCEpiC	kidney:	n/a
13	chr4:74921023-74921073	PrEC	prostate:	n/a
14	chr4:74921023-74921073	AG04450	lung:	fetal
15	chr4:74921023-74921073	AG04449	skin:	fetal
16	chr4:74921023-74921073	Hela-S3	cervix:	n/a
17	chr4:74921023-74921073	AG09319	gingival:	n/a
18	chr4:74921023-74921073	NT2-D1	testis:	n/a
19	chr4:74921023-74921073	PFSK-1	brain:	n/a
20	chr4:74921023-74921073	K562	blood:	n/a
21	chr4:74921023-74921073	HPAEpiC	pulmonary alveolar:	n/a
22	chr4:74921023-74921073	ovcar-3	ovarian:	n/a
23	chr4:74921023-74921073	MCF10A-Er-Src	breast:	n/a
24	chr4:74921023-74921073	HEK293	kidney:	embryo
25	chr4:74921023-74921073	HRPEpiC	eye:	n/a
26	chr4:74921023-74921073	BE2_C	brain:	n/a
27	chr4:74921023-74921073	Caco-2	colon:	n/a
28	chr4:74921023-74921073	NH-A	brain:	n/a
29	chr4:74921023-74921073	GM12892	blood:	n/a
30	chr4:74921023-74921073	NHDF-neo	bronchial:	n/a
31	chr4:74921023-74921073	CMK	blood:	n/a
32	chr4:74921023-74921073	Hepatocyte	liver:	n/a
33	chr4:74921023-74921073	LNCaP	prostate:	n/a
34	chr4:74921023-74921073	U87	brain:	n/a
35	chr4:74921023-74921073	GM19239	blood:	n/a
36	chr4:74921023-74921073	AoSMC	blood vessel:	n/a
37	chr4:74921023-74921073	SK-N-SH	brain:	n/a
38	chr4:74921023-74921073	GM12878	blood:	n/a
39	chr4:74921023-74921073	T-47D	breast:	n/a
40	chr4:74921023-74921073	HCF	heart:	n/a
41	chr4:74921023-74921073	ECC-1	luminal epithelium:	n/a
42	chr4:74921023-74921073	NB4	blood:	n/a
43	chr4:74921023-74921073	MCF-7	breast:	n/a
44	chr4:74921023-74921073	HMEC	breast:	n/a
45	chr4:74921023-74921073	AG09309	skin:	n/a
46	chr4:74921023-74921073	NHBE	bronchial:	n/a
47	chr4:74921023-74921073	HCPEpiC	choroid plexus:	n/a
48	chr4:74921023-74921073	ProgFib	skin:	n/a
49	chr4:74921023-74921073	GM06990	blood:	n/a
50	chr4:74921023-74921073	GM12891	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:74902434..74906647-chr4:74918639..74924896,12	K562	blood:
2	chr4:74902071..74908104-chr4:74918639..74927051,16	K562	blood:
3	chr4:74917692..74925936-chr4:74958187..74967502,26	K562	blood:
4	chr4:74918446..74926481-chr4:74958079..74968779,32	K562	blood:
5	chr4:74920487..74923421-chr4:75023614..75026198,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CXCL3-2	chr4:74919755-74921116	NONHSAT096880

No data

Variant related genes	Relation type
PPBPP2	TF binding region
PPBPP2	CpG island
ENSG00000163738	Chromatin interaction
ENSG00000163734	Chromatin interaction
ENSG00000269559	Chromatin interaction
ENSG00000081041	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1246766	1.00[AMR][1000 genomes]
rs1261907	1.00[AMR][1000 genomes]
rs164755	1.00[AMR][1000 genomes]
rs164756	1.00[AMR][1000 genomes]
rs16850536	1.00[AMR][1000 genomes]
rs191613	1.00[AMR][1000 genomes]
rs2573028	1.00[AMR][1000 genomes]
rs352039	1.00[AMR][1000 genomes]
rs352040	1.00[AMR][1000 genomes]
rs352049	1.00[AMR][1000 genomes]
rs472689	1.00[AMR][1000 genomes]
rs486154	1.00[AMR][1000 genomes]
rs488994	1.00[AMR][1000 genomes]
rs499451	1.00[AMR][1000 genomes]
rs505197	1.00[AMR][1000 genomes]
rs512947	1.00[EUR][1000 genomes]
rs526993	1.00[AMR][1000 genomes]
rs539431	1.00[AMR][1000 genomes]
rs543325	1.00[AMR][1000 genomes]
rs550282	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551055	1.00[AMR][1000 genomes]
rs570922	1.00[AMR][1000 genomes]
rs571068	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3443825	chr4:74903785-74964443	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74911200-74921800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:74913200-74921600	Weak transcription	A549	lung
3	chr4:74919200-74921600	Enhancers	Dnd41	blood
4	chr4:74919600-74922600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:74919600-74925200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr4:74919800-74921200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:74919800-74921800	Enhancers	Fetal Thymus	thymus
8	chr4:74919800-74924600	Enhancers	Hela-S3	cervix
9	chr4:74920200-74921200	Enhancers	Primary hematopoietic stem cells	blood
10	chr4:74920200-74921800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:74920200-74922000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:74920600-74921200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:74920800-74921800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:74921000-74921600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:74921000-74921800	Weak transcription	Thymus	Thymus
16	chr4:74921000-74921800	Enhancers	K562	blood

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