Variant report

Variant	rs1975299
Chromosome Location	chr11:16321459-16321460
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16320208..16325267-chr11:16327688..16333055,7	K562	blood:
2	chr11:16321344..16323621-chr11:16628073..16630066,2	K562	blood:
3	chr11:16253250..16255469-chr11:16319154..16321553,2	K562	blood:
4	chr11:16319654..16322461-chr11:16374502..16376452,2	K562	blood:
5	chr11:16321344..16323134-chr11:16627943..16629573,2	K562	blood:
6	chr11:16315356..16317680-chr11:16319663..16321885,2	K562	blood:
7	chr11:16309641..16311247-chr11:16321242..16323423,2	K562	blood:
8	chr11:16301382..16303241-chr11:16318945..16321849,2	K562	blood:
9	chr11:16315419..16322751-chr11:16322783..16327004,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110693	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11023926	0.83[CEU][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12417996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418887	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420134	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12791361	1.00[CHB][hapmap]
rs12800654	1.00[CHB][hapmap]
rs1437635	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932966	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17461712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17538814	1.00[CHB][hapmap]
rs17552977	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17553733	1.00[CEU][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1827535	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2118362	1.00[ASN][1000 genomes]
rs34281980	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34866095	1.00[ASN][1000 genomes]
rs35603256	1.00[ASN][1000 genomes]
rs61881739	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881740	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881741	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881743	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881745	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883184	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883185	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883187	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883197	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109139	1.00[ASN][1000 genomes]
rs7109376	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7127006	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs722747	1.00[CHB][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869952	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929530	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7933830	1.00[ASN][1000 genomes]
rs7936866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16302200-16321600	Weak transcription	Left Ventricle	heart
2	chr11:16313400-16322200	Enhancers	Brain Germinal Matrix	brain
3	chr11:16315200-16351800	Weak transcription	Fetal Intestine Large	intestine
4	chr11:16315600-16321600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:16315600-16322200	Weak transcription	Fetal Kidney	kidney
6	chr11:16317400-16327400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:16319400-16321600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:16319400-16321600	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:16319400-16322000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:16319400-16377600	Weak transcription	Psoas Muscle	Psoas
11	chr11:16319600-16321800	Weak transcription	Fetal Lung	lung
12	chr11:16319600-16321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:16320600-16340600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:16320800-16321600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr11:16320800-16321800	Enhancers	HepG2	liver
16	chr11:16321000-16322000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:16321200-16322400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:16321400-16321600	Active TSS	K562	blood
19	chr11:16321400-16321800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:16321400-16322400	Enhancers	Skeletal Muscle Female	skeletal muscle

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