Variant report

Variant	rs4894005
Chromosome Location	chr2:179149012-179149013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10167889	0.86[EUR][1000 genomes]
rs12467696	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12471986	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401080	1.00[ASN][1000 genomes]
rs1992753	0.86[EUR][1000 genomes]
rs333988	0.86[EUR][1000 genomes]
rs334611	0.82[EUR][1000 genomes]
rs334613	0.82[EUR][1000 genomes]
rs4894006	0.87[EUR][1000 genomes]
rs62177256	0.84[EUR][1000 genomes]
rs62177257	0.86[EUR][1000 genomes]
rs62179160	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62179161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62179162	0.89[EUR][1000 genomes]
rs62179163	0.87[EUR][1000 genomes]
rs62179164	0.87[EUR][1000 genomes]
rs62179165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62179167	0.85[EUR][1000 genomes]
rs6433718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6743122	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756568	1.00[ASN][1000 genomes]
rs9808049	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179143000-179160200	Weak transcription	Fetal Kidney	kidney
2	chr2:179143200-179160800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:179143200-179188600	Weak transcription	Brain Anterior Caudate	brain
4	chr2:179144200-179163800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:179144400-179153000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:179144400-179154600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:179144600-179149400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:179144600-179149600	Weak transcription	HSMMtube	muscle
9	chr2:179144600-179155000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:179145000-179159200	Weak transcription	Liver	Liver
11	chr2:179146000-179149800	Enhancers	Fetal Intestine Small	intestine
12	chr2:179146400-179150000	Enhancers	Fetal Intestine Large	intestine
13	chr2:179146600-179151600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:179147200-179149600	Weak transcription	Psoas Muscle	Psoas
15	chr2:179147200-179151200	Weak transcription	Osteobl	bone
16	chr2:179147200-179151400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:179147400-179149200	Weak transcription	HUVEC	blood vessel
18	chr2:179147400-179151600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:179147400-179152000	Weak transcription	NH-A	brain
20	chr2:179147400-179153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:179147400-179162600	Weak transcription	HMEC	breast
22	chr2:179147400-179163000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:179147400-179163000	Weak transcription	NHEK	skin
24	chr2:179147800-179162800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:179148000-179150200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:179148000-179152600	Weak transcription	Right Ventricle	heart
27	chr2:179148400-179150000	Enhancers	K562	blood
28	chr2:179149000-179149400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:179149000-179150600	Enhancers	Skeletal Muscle Male	skeletal muscle

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