Variant report

Variant	rs10503421
Chromosome Location	chr8:11221313-11221314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11212238..11213947-chr8:11218852..11221758,2	MCF-7	breast:
2	chr8:11220966..11222998-chr8:11244334..11246099,2	MCF-7	breast:
3	chr8:11210953..11213367-chr8:11221125..11223002,2	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:

Variant related genes	Relation type
ENSG00000154316	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10096194	0.96[CEU][hapmap]
rs10098322	0.96[CEU][hapmap]
rs10110557	0.93[CEU][hapmap]
rs1047950	0.83[CEU][hapmap]
rs11250127	0.81[CEU][hapmap]
rs11250129	0.88[CEU][hapmap]
rs11777746	0.82[AMR][1000 genomes]
rs12549871	0.81[AMR][1000 genomes]
rs12681987	0.89[CEU][hapmap]
rs1435277	0.82[CEU][hapmap]
rs17741537	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17797894	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs1865521	0.84[AMR][1000 genomes]
rs1962656	0.83[EUR][1000 genomes]
rs2043508	0.82[AMR][1000 genomes]
rs2043510	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2060456	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2060457	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs2060459	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2060465	0.82[CEU][hapmap]
rs2164272	0.82[CEU][hapmap]
rs2164273	0.82[CEU][hapmap]
rs2263511	0.81[AMR][1000 genomes]
rs2263512	0.81[AMR][1000 genomes]
rs2293858	0.84[EUR][1000 genomes]
rs2293859	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs2293860	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2572371	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2572391	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2572450	0.81[AMR][1000 genomes]
rs2572452	0.89[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2736270	0.83[CEU][hapmap]
rs2736277	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs2736280	0.85[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2736282	0.89[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2736283	0.89[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2736285	0.82[AMR][1000 genomes]
rs2736286	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2736287	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2736288	0.82[AMR][1000 genomes]
rs2736292	0.81[AMR][1000 genomes]
rs2898272	0.81[AMR][1000 genomes]
rs3779891	1.00[CEU][hapmap]
rs3808513	0.82[CEU][hapmap]
rs4394351	0.84[EUR][1000 genomes]
rs4413734	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4448232	0.84[AMR][1000 genomes]
rs5029571	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6601582	0.86[CEU][hapmap];0.82[AMR][1000 genomes]
rs6601585	0.81[AMR][1000 genomes]
rs6985146	0.82[CEU][hapmap]
rs6985460	0.82[CEU][hapmap]
rs6995404	0.96[CEU][hapmap]
rs7005469	0.96[CEU][hapmap]
rs7016671	0.96[CEU][hapmap]
rs7819395	0.92[CEU][hapmap]
rs7820301	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7820895	0.80[EUR][1000 genomes]
rs7838897	0.93[CEU][hapmap]
rs7839053	0.93[CEU][hapmap]
rs920044	0.86[AMR][1000 genomes];0.91[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10503421	MTMR9	Cis_1M	lymphoblastoid	RTeQTL
rs10503421	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 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	chr8:11208000-11222400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:11210000-11224000	Weak transcription	Brain Angular Gyrus	brain
6	chr8:11212800-11223600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:11216000-11227400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:11216800-11222200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:11218000-11224000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:11218000-11237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:11218200-11221400	Weak transcription	Gastric	stomach
12	chr8:11219400-11221600	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:11219600-11222800	Weak transcription	HMEC	breast
14	chr8:11219800-11222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:11219800-11222800	Weak transcription	NHEK	skin
16	chr8:11220000-11223000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:11220800-11222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:11221000-11223400	Strong transcription	Pancreas	Pancrea
19	chr8:11221000-11224000	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:11221200-11222400	Weak transcription	K562	blood

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