Variant report

Variant	rs1005543
Chromosome Location	chr14:70492846-70492847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70492362..70495132-chr14:70501110..70503628,2	K562	blood:
2	chr14:70285591..70287548-chr14:70492500..70494063,2	K562	blood:
3	chr14:70329512..70332305-chr14:70492102..70494618,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10134291	0.82[CHB][hapmap]
rs10134965	0.82[CHB][hapmap]
rs11158827	0.82[CHB][hapmap]
rs1156446	0.81[ASN][1000 genomes]
rs12436175	0.97[ASN][1000 genomes]
rs12885068	0.82[CHB][hapmap]
rs12885683	0.82[CHB][hapmap]
rs1459704	0.83[CHB][hapmap]
rs17107610	0.82[CHB][hapmap]
rs17107635	0.82[CHB][hapmap]
rs17107637	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs17107651	0.86[CHB][hapmap]
rs1998334	0.82[ASN][1000 genomes]
rs2281663	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742912	0.82[CHB][hapmap]
rs3825739	0.82[CHB][hapmap]
rs56029860	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59662605	0.97[ASN][1000 genomes]
rs60011612	0.82[ASN][1000 genomes]
rs7157226	0.83[CHB][hapmap]
rs7160726	0.83[CHB][hapmap]
rs72728002	0.97[ASN][1000 genomes]
rs72729803	0.97[ASN][1000 genomes]
rs72729808	0.99[ASN][1000 genomes]
rs8010305	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs8012912	0.82[CHB][hapmap]
rs8016522	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019103	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv817638	chr14:70489680-70500973	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70476000-70500000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:70476200-70499000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:70485000-70493200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:70485800-70493000	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:70485800-70495600	Weak transcription	Right Atrium	heart
6	chr14:70485800-70497600	Strong transcription	Hela-S3	cervix
7	chr14:70485800-70498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:70486000-70496200	Weak transcription	Pancreas	Pancrea
9	chr14:70486000-70500400	Weak transcription	Aorta	Aorta
10	chr14:70486400-70502800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:70486600-70498200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:70487000-70494400	Strong transcription	Liver	Liver
13	chr14:70487800-70494200	Weak transcription	Fetal Stomach	stomach
14	chr14:70487800-70498400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:70488000-70498600	Weak transcription	Gastric	stomach
16	chr14:70488200-70493800	Strong transcription	HepG2	liver
17	chr14:70488200-70494200	Weak transcription	Brain Substantia Nigra	brain
18	chr14:70488200-70494400	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:70488800-70493200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:70489000-70499200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:70490000-70493400	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:70490200-70499200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:70490600-70495000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:70490600-70498600	Weak transcription	NHEK	skin
25	chr14:70491000-70493000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:70491400-70498600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:70491600-70494200	Strong transcription	Spleen	Spleen
28	chr14:70492200-70499400	Weak transcription	Brain Germinal Matrix	brain
29	chr14:70492400-70496600	Weak transcription	Fetal Brain Female	brain
30	chr14:70492800-70494400	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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