Variant report

Variant	rs10256873
Chromosome Location	chr7:126368292-126368293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:126345298..126347848-chr7:126367419..126370072,2	K562	blood:
2	chr7:126359674..126361280-chr7:126368196..126369937,2	K562	blood:
3	chr7:126365451..126368313-chr7:126375080..126378772,3	K562	blood:
4	chr7:126338487..126341370-chr7:126368124..126371050,2	K562	blood:
5	7:126366539-126370331..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000179603	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1008907	0.86[CHB][hapmap]
rs10232001	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10280247	0.96[CEU][hapmap];0.90[CHB][hapmap];0.97[EUR][1000 genomes]
rs10487458	0.84[CHB][hapmap]
rs10808227	0.81[CHB][hapmap]
rs10954134	0.81[CHB][hapmap]
rs10954135	0.81[CHB][hapmap]
rs11978951	0.90[CHB][hapmap]
rs12706744	0.86[CHB][hapmap]
rs1419493	0.86[CHB][hapmap]
rs2237762	0.80[CHB][hapmap]
rs2237767	0.90[CHB][hapmap]
rs2283070	0.85[CHB][hapmap]
rs2299499	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2299500	0.90[CHB][hapmap]
rs2299513	0.84[CHB][hapmap]
rs4728050	0.84[CEU][hapmap];0.90[CHB][hapmap];0.98[EUR][1000 genomes]
rs6467095	0.96[CEU][hapmap];0.90[CHB][hapmap];0.98[EUR][1000 genomes]
rs6467096	0.96[CEU][hapmap];0.90[CHB][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs6467097	0.96[CEU][hapmap];0.88[CHB][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6963108	0.81[CHB][hapmap]
rs6969693	0.85[CHB][hapmap]
rs6974018	0.90[CHB][hapmap]
rs6976797	0.91[CEU][hapmap];0.94[CHB][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs737702	0.81[CHB][hapmap]
rs756900	0.86[CHB][hapmap]
rs7779831	0.81[CHB][hapmap]
rs7780253	0.81[CHB][hapmap]
rs7791956	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7794592	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7801141	0.84[CHB][hapmap]
rs7804521	0.90[CHB][hapmap]
rs886176	0.86[CHB][hapmap]
rs9649507	0.81[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv889187	chr7:126219766-126478190	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10256873	MEST	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126367400-126369400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:126367600-126368600	Enhancers	NH-A	brain
3	chr7:126367600-126368800	Enhancers	NHEK	skin
4	chr7:126367600-126369000	Enhancers	HMEC	breast
5	chr7:126367800-126368600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:126367800-126368800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:126367800-126369000	Enhancers	HUVEC	blood vessel
8	chr7:126368000-126368400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:126368000-126368400	Enhancers	K562	blood
10	chr7:126368000-126368600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:126368000-126369000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:126368000-126369000	Weak transcription	Pancreas	Pancrea
13	chr7:126368200-126368400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:126368200-126368600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:126368200-126368600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:126368200-126368600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:126368200-126368600	Enhancers	Brain Substantia Nigra	brain
18	chr7:126368200-126368600	Enhancers	Dnd41	blood
19	chr7:126368200-126368600	Flanking Active TSS	Hela-S3	cervix

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