Variant report

Variant	rs2736279
Chromosome Location	chr8:11222770-11222771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11220966..11222998-chr8:11244334..11246099,2	MCF-7	breast:
2	chr8:11210953..11213367-chr8:11221125..11223002,2	K562	blood:
3	chr8:11214329..11216300-chr8:11221586..11223456,2	K562	blood:
4	chr8:11219674..11222977-chr8:11226282..11228003,4	MCF-7	breast:
5	chr8:11218476..11220050-chr8:11220905..11223351,2	K562	blood:
6	chr8:11221017..11222981-chr8:11226248..11228543,2	K562	blood:
7	chr8:11142056..11144386-chr8:11221782..11223912,2	K562	blood:

Variant related genes	Relation type
ENSG00000104643	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1369366	1.00[EUR][1000 genomes]
rs1369367	1.00[EUR][1000 genomes]
rs1435272	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1435281	1.00[EUR][1000 genomes]
rs1435283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1435284	1.00[EUR][1000 genomes]
rs1529855	1.00[EUR][1000 genomes]
rs1865516	1.00[EUR][1000 genomes]
rs1865520	1.00[EUR][1000 genomes]
rs2043509	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2043511	1.00[EUR][1000 genomes]
rs2572368	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2572373	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2572396	1.00[EUR][1000 genomes]
rs2572424	1.00[EUR][1000 genomes]
rs2572425	1.00[EUR][1000 genomes]
rs2572427	1.00[EUR][1000 genomes]
rs2572453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736259	1.00[EUR][1000 genomes]
rs2736260	1.00[EUR][1000 genomes]
rs2736275	1.00[EUR][1000 genomes]
rs2736276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736281	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736284	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736383	1.00[EUR][1000 genomes]
rs55731352	1.00[EUR][1000 genomes]
rs61251909	1.00[EUR][1000 genomes]
rs73665041	1.00[EUR][1000 genomes]
rs73665047	1.00[EUR][1000 genomes]
rs920046	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs920052	1.00[EUR][1000 genomes]
rs978148	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv890356	chr8:11202154-11223022	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11206200-11225000	Weak transcription	Psoas Muscle	Psoas
2	chr8:11206400-11226400	Weak transcription	Brain Anterior Caudate	brain
3	chr8:11207200-11223600	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:11210000-11224000	Weak transcription	Brain Angular Gyrus	brain
5	chr8:11212800-11223600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:11216000-11227400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:11218000-11224000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:11218000-11237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:11219600-11222800	Weak transcription	HMEC	breast
10	chr8:11219800-11222800	Weak transcription	NHEK	skin
11	chr8:11220000-11223000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:11221000-11223400	Strong transcription	Pancreas	Pancrea
13	chr8:11221000-11224000	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:11222200-11223400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:11222400-11222800	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:11222400-11225400	Strong transcription	K562	blood
17	chr8:11222600-11223400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:11222600-11224200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:11222600-11224400	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links