Variant report

Variant	rs12047928
Chromosome Location	chr1:77932750-77932751
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	chr1:77931036..77935396-chr1:77935652..77939462,4	K562	blood:
2	chr1:77922521..77925013-chr1:77930694..77933146,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12044354	0.84[CEU][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12066994	0.87[EUR][1000 genomes]
rs12741939	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1498405	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs1874817	0.88[EUR][1000 genomes]
rs1874819	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2221084	0.87[EUR][1000 genomes]
rs2247536	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2247742	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs2251456	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs2647506	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2647525	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2803162	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs3112826	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3112827	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3121778	0.87[EUR][1000 genomes]
rs6704141	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv462095	chr1:77903611-77951460	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv546592	chr1:77903611-77951460	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77911200-77934000	Weak transcription	HSMM	muscle
2	chr1:77913000-77934400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:77913200-77937000	Weak transcription	Primary T cells from cord blood	blood
4	chr1:77913200-77968400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:77914600-77955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:77915200-77933600	Weak transcription	NHLF	lung
7	chr1:77925800-77932800	Weak transcription	NHDF-Ad	bronchial
8	chr1:77925800-77933400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:77926000-77933600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:77926600-77933600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:77929400-77935400	Enhancers	Brain Hippocampus Middle	brain
12	chr1:77929400-77935800	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:77929800-77935000	Enhancers	Brain Anterior Caudate	brain
14	chr1:77930200-77938000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:77930400-77935600	Enhancers	Brain Angular Gyrus	brain
16	chr1:77931200-77933400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:77931400-77933400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:77931400-77935600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:77931800-77934600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:77932000-77933600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:77932200-77934800	Enhancers	Fetal Intestine Large	intestine
22	chr1:77932400-77932800	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr1:77932400-77935000	Enhancers	Fetal Intestine Small	intestine
24	chr1:77932600-77933600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links