Variant report

Variant	rs1921302
Chromosome Location	chr2:67437753-67437754
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr2:67437525-67437902	Hela-S3	cervix:	n/a	chr2:67437695-67437706
2	CTCF	chr2:67437640-67437790	HCPEpiC	choroid plexus:	n/a	n/a
3	CTCF	chr2:67437680-67437830	HepG2	liver:	n/a	n/a
4	CTCF	chr2:67437620-67437770	BE2_C	brain:	n/a	n/a
5	CTCF	chr2:67437640-67437790	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:67437720-67437870	MCF-7	breast:	n/a	n/a
7	CTCF	chr2:67437660-67437810	AG10803	skin:	n/a	n/a
8	CTCF	chr2:67437620-67437770	HCFaa	heart:	n/a	n/a
9	CTCF	chr2:67437720-67437870	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr2:67437620-67437770	AG09309	skin:	n/a	n/a
11	RAD21	chr2:67437480-67437884	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr2:67437640-67437790	AG04450	lung:	n/a	n/a
13	RAD21	chr2:67437658-67437892	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr2:67437640-67437790	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr2:67437560-67437830	HVMF	connective:	n/a	n/a
16	CTCF	chr2:67437660-67437810	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr2:67437680-67437830	HAc	cerebellar:	n/a	n/a
18	CTCF	chr2:67437680-67437830	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr2:67437640-67437790	GM12875	blood:	n/a	n/a
20	CTCF	chr2:67437680-67437830	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr2:67437620-67437770	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr2:67437660-67437810	HEK293	kidney:	n/a	n/a
23	CTCF	chr2:67437620-67437770	NHLF	lung:	n/a	n/a
24	CTCF	chr2:67437620-67437770	K562	blood:	n/a	n/a
25	CTCF	chr2:67437720-67437870	BE2_C	brain:	n/a	n/a
26	CTCF	chr2:67437620-67437770	HA-sp	spinal cord:	n/a	n/a
27	CTCF	chr2:67437697-67437766	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr2:67437680-67437830	HMF	breast:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000230906	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10190441	0.84[CEU][hapmap]
rs17592856	0.87[CEU][hapmap]
rs5028772	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2759058	chr2:67266707-67465662	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2757805	chr2:67287279-67465662	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv428397	chr2:67287279-67465662	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv1008421	chr2:67417384-67476219	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
8	nsv818006	chr2:67424193-67438040	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	nsv1001672	chr2:67429146-67498042	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv979013	chr2:67434416-67438924	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1921302	APLF	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67435200-67442200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:67436400-67440400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:67436600-67439000	Weak transcription	Fetal Lung	lung
4	chr2:67437400-67439000	Enhancers	Pancreas	Pancrea
5	chr2:67437600-67437800	Active TSS	Colon Smooth Muscle	Colon
6	chr2:67437600-67438200	Weak transcription	Fetal Stomach	stomach

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