Variant report

Variant	rs16987650
Chromosome Location	chr22:29850761-29850762
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29850480..29852117-chr22:29852371..29853985,2	K562	blood:
2	chr22:29842498..29846304-chr22:29847549..29850894,5	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12160588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13058401	0.83[ASN][1000 genomes]
rs2285326	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs5763254	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs5763373	1.00[TSI][hapmap]
rs5763382	1.00[TSI][hapmap]
rs5997479	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997480	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6006143	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs6006146	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6006148	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6006149	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6006153	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8141113	0.81[JPT][hapmap]

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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 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	chr22:29836000-29859400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr22:29836200-29863200	Weak transcription	Fetal Brain Female	brain
3	chr22:29836600-29866000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr22:29844200-29856000	Weak transcription	Brain Angular Gyrus	brain
5	chr22:29845000-29856000	Weak transcription	Fetal Stomach	stomach
6	chr22:29846600-29852200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:29847400-29864800	Weak transcription	Brain Germinal Matrix	brain
8	chr22:29849800-29850800	Enhancers	Colon Smooth Muscle	Colon
9	chr22:29850000-29850800	Enhancers	Rectal Smooth Muscle	rectum
10	chr22:29850200-29850800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr22:29850200-29850800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr22:29850400-29850800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:29850400-29852000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:29850600-29852000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr22:29850600-29852200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr22:29850600-29852200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr22:29850600-29852400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:29850600-29855400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr22:29850600-29856200	Weak transcription	Fetal Intestine Small	intestine
20	chr22:29850600-29867200	Weak transcription	Ovary	ovary

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