Variant report

Variant	rs7600452
Chromosome Location	chr2:74117499-74117500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr2:74117444-74117712	K562	blood:	n/a	chr2:74117621-74117639 chr2:74117623-74117636 chr2:74117620-74117640 chr2:74117626-74117640 chr2:74117620-74117640 chr2:74117620-74117640
2	REST	chr2:74117484-74117806	PFSK-1	brain:	n/a	chr2:74117621-74117639 chr2:74117623-74117636 chr2:74117620-74117640 chr2:74117626-74117640 chr2:74117620-74117640 chr2:74117620-74117640
3	REST	chr2:74117410-74117754	PFSK-1	brain:	n/a	chr2:74117621-74117639 chr2:74117623-74117636 chr2:74117620-74117640 chr2:74117626-74117640 chr2:74117620-74117640 chr2:74117620-74117640
4	REST	chr2:74117401-74117803	PANC-1	pancreas:	n/a	chr2:74117621-74117639 chr2:74117623-74117636 chr2:74117620-74117640 chr2:74117626-74117640 chr2:74117620-74117640 chr2:74117620-74117640
5	REST	chr2:74117429-74117778	PANC-1	pancreas:	n/a	chr2:74117621-74117639 chr2:74117623-74117636 chr2:74117620-74117640 chr2:74117626-74117640 chr2:74117620-74117640 chr2:74117620-74117640
6	REST	chr2:74117441-74117869	ECC-1	luminal epithelium:	n/a	chr2:74117621-74117639 chr2:74117623-74117636 chr2:74117620-74117640 chr2:74117626-74117640 chr2:74117620-74117640 chr2:74117620-74117640
7	REST	chr2:74117409-74118015	HepG2	liver:	n/a	chr2:74117621-74117639 chr2:74117623-74117636 chr2:74117620-74117640 chr2:74117626-74117640 chr2:74117620-74117640 chr2:74117620-74117640
8	REST	chr2:74117455-74117738	H1-hESC	embryonic stem cell:	n/a	chr2:74117621-74117639 chr2:74117623-74117636 chr2:74117620-74117640 chr2:74117626-74117640 chr2:74117620-74117640 chr2:74117620-74117640
9	REST	chr2:74117428-74117748	MCF-7	breast:	n/a	chr2:74117621-74117639 chr2:74117623-74117636 chr2:74117620-74117640 chr2:74117626-74117640 chr2:74117620-74117640 chr2:74117620-74117640
10	REST	chr2:74117480-74117725	Hela-S3	cervix:	n/a	chr2:74117621-74117639 chr2:74117623-74117636 chr2:74117620-74117640 chr2:74117626-74117640 chr2:74117620-74117640 chr2:74117620-74117640
11	REST	chr2:74117387-74117968	ECC-1	luminal epithelium:	n/a	chr2:74117621-74117639 chr2:74117623-74117636 chr2:74117620-74117640 chr2:74117626-74117640 chr2:74117620-74117640 chr2:74117620-74117640
12	REST	chr2:74117465-74117790	H1-hESC	embryonic stem cell:	n/a	chr2:74117621-74117639 chr2:74117623-74117636 chr2:74117620-74117640 chr2:74117626-74117640 chr2:74117620-74117640 chr2:74117620-74117640
13	FOXA2	chr2:74117352-74117692	HepG2	liver:	n/a	n/a
14	REST	chr2:74117444-74117740	HepG2	liver:	n/a	chr2:74117621-74117639 chr2:74117623-74117636 chr2:74117620-74117640 chr2:74117626-74117640 chr2:74117620-74117640 chr2:74117620-74117640
15	EP300	chr2:74117263-74117776	HepG2	liver:	n/a	n/a
16	REST	chr2:74117459-74117771	SK-N-SH	brain:	n/a	chr2:74117621-74117639 chr2:74117623-74117636 chr2:74117620-74117640 chr2:74117626-74117640 chr2:74117620-74117640 chr2:74117620-74117640

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:74116934..74118843-chr2:74125346..74127751,2	K562	blood:

Variant related genes	Relation type
ACTG2	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11890369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11892479	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11897051	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12105840	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13414927	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs13418993	0.90[EUR][1000 genomes]
rs13419314	0.90[EUR][1000 genomes]
rs13432600	0.90[EUR][1000 genomes]
rs3738845	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs3813233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813234	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56875063	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59974236	0.82[ASN][1000 genomes]
rs60987687	0.87[EUR][1000 genomes]
rs61314551	0.82[ASN][1000 genomes]
rs6705766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714724	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6744169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756768	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72917409	0.90[EUR][1000 genomes]
rs72917413	0.90[EUR][1000 genomes]
rs72917415	0.90[EUR][1000 genomes]
rs72917417	0.90[EUR][1000 genomes]
rs72917422	0.90[EUR][1000 genomes]
rs72917443	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917450	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73948041	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7565869	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7579755	0.90[EUR][1000 genomes]
rs7581248	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7600291	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7607601	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74114800-74118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:74115000-74118000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:74115000-74118800	Enhancers	Colon Smooth Muscle	Colon
4	chr2:74115000-74119600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:74115000-74123600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:74115400-74117600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:74115400-74117600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:74116600-74119400	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:74116800-74119400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:74117200-74117600	Bivalent Enhancer	HepG2	liver
11	chr2:74117200-74121400	Weak transcription	Gastric	stomach
12	chr2:74117400-74118000	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr2:74117400-74118200	Enhancers	Brain Hippocampus Middle	brain
14	chr2:74117400-74118400	Bivalent Enhancer	NH-A	brain

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