Variant report

Variant	rs62116369
Chromosome Location	chr19:51974468-51974469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr19:51974189-51974718	K562	blood:	n/a	n/a
2	FOS	chr19:51974386-51974662	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr19:51974354-51974583	K562	blood:	n/a	n/a
4	CCNT2	chr19:51974370-51974589	K562	blood:	n/a	n/a
5	BHLHE40	chr19:51974450-51974562	K562	blood:	n/a	n/a
6	CUX1	chr19:51974394-51975128	K562	blood:	n/a	n/a
7	MYC	chr19:51974306-51974690	K562	blood:	n/a	chr19:51974668-51974676
8	TBL1XR1	chr19:51974413-51974605	K562	blood:	n/a	n/a
9	EP300	chr19:51974316-51974788	K562	blood:	n/a	n/a
10	POLR2A	chr19:51974285-51974826	K562	blood:	n/a	n/a
11	CEBPB	chr19:51974300-51974658	K562	blood:	n/a	n/a
12	CBX3	chr19:51974177-51974638	K562	blood:	n/a	n/a
13	GATA1	chr19:51974238-51974916	PBDE	blood:	n/a	n/a
14	JUND	chr19:51974321-51974685	K562	blood:	n/a	n/a
15	ATF1	chr19:51974323-51974655	K562	blood:	n/a	n/a
16	ARID3A	chr19:51974344-51975047	K562	blood:	n/a	n/a
17	MAFK	chr19:51974410-51974579	K562	blood:	n/a	n/a
18	RCOR1	chr19:51974220-51974689	K562	blood:	n/a	n/a
19	USF1	chr19:51974376-51974587	K562	blood:	n/a	n/a
20	IRF1	chr19:51974349-51975179	K562	blood:	n/a	chr19:51974593-51974600
21	CEBPB	chr19:51974336-51974578	K562	blood:	n/a	n/a
22	MAZ	chr19:51974405-51974597	K562	blood:	n/a	n/a
23	TBL1XR1	chr19:51974308-51974688	K562	blood:	n/a	n/a
24	SPI1	chr19:51974295-51974524	K562	blood:	n/a	n/a
25	RCOR1	chr19:51974363-51974563	K562	blood:	n/a	n/a
26	CEBPB	chr19:51974185-51974632	K562	blood:	n/a	n/a
27	ZC3H11A	chr19:51974410-51974491	K562	blood:	n/a	n/a
28	JUN	chr19:51974343-51974736	K562	blood:	n/a	n/a
29	FOS	chr19:51974334-51975223	HUVEC	blood vessel:	n/a	chr19:51975004-51975015
30	EP300	chr19:51974402-51974549	K562	blood:	n/a	n/a
31	CEBPB	chr19:51974319-51974608	Hela-S3	cervix:	n/a	n/a
32	EGR1	chr19:51974220-51974472	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51974430..51976310-chr19:52037889..52040847,2	K562	blood:
2	chr19:51868665..51871642-chr19:51973620..51976713,3	K562	blood:

No data

Variant related genes	Relation type
SIGLEC26P	TF binding region
ENSG00000268520	Chromatin interaction
ENSG00000160318	Chromatin interaction
ENSG00000105379	Chromatin interaction
ENSG00000269403	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10424482	0.87[EUR][1000 genomes]
rs10424572	0.98[EUR][1000 genomes]
rs10424783	0.87[EUR][1000 genomes]
rs10424804	0.87[EUR][1000 genomes]
rs11878257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878282	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878388	0.98[EUR][1000 genomes]
rs11881105	0.94[EUR][1000 genomes]
rs16982729	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17206902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs185254	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2607257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607259	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2607260	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28539101	1.00[EUR][1000 genomes]
rs28607420	0.87[EUR][1000 genomes]
rs2864090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2864091	1.00[EUR][1000 genomes]
rs2864092	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2864093	1.00[EUR][1000 genomes]
rs36502	0.96[ASN][1000 genomes]
rs36503	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56799568	0.98[EUR][1000 genomes]
rs61201251	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62115066	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62116370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62116371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62116417	0.98[EUR][1000 genomes]
rs62116418	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62116419	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62116420	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62116422	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7246811	0.98[EUR][1000 genomes]
rs8101777	0.87[EUR][1000 genomes]
rs8107537	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv458724	chr19:51925519-51975723	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv579965	chr19:51925519-51975723	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv961163	chr19:51971394-51976393	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51971800-51975000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr19:51972000-51976000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr19:51972600-51976400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr19:51974400-51974600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr19:51974400-51974800	Flanking Active TSS	K562	blood

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