Variant report

Variant	rs4894006
Chromosome Location	chr2:179153012-179153013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179152853..179155708-chr2:179159805..179161811,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10167889	0.99[EUR][1000 genomes]
rs12464806	0.84[AMR][1000 genomes]
rs12467696	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12471986	0.85[EUR][1000 genomes]
rs12473890	0.84[AMR][1000 genomes]
rs16866272	0.81[AMR][1000 genomes]
rs1992753	0.99[EUR][1000 genomes]
rs4893850	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4894005	0.87[EUR][1000 genomes]
rs62176069	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62176070	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62176071	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62176072	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62176076	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62176078	0.82[EUR][1000 genomes]
rs62177255	0.83[EUR][1000 genomes]
rs62177256	0.97[EUR][1000 genomes]
rs62177257	0.99[EUR][1000 genomes]
rs62179160	0.87[EUR][1000 genomes]
rs62179161	0.87[EUR][1000 genomes]
rs62179162	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62179163	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62179164	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62179165	0.87[EUR][1000 genomes]
rs62179167	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6433718	0.87[EUR][1000 genomes]
rs6743122	0.87[EUR][1000 genomes]
rs73032523	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7349264	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7559125	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7559527	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7570485	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7599195	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9808049	0.99[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:26 , 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	chr2:179144400-179154600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:179144600-179155000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:179145000-179159200	Weak transcription	Liver	Liver
8	chr2:179147400-179162600	Weak transcription	HMEC	breast
9	chr2:179147400-179163000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:179147400-179163000	Weak transcription	NHEK	skin
11	chr2:179147800-179162800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:179150200-179160800	Weak transcription	Psoas Muscle	Psoas
13	chr2:179150600-179160600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:179151600-179153200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:179151600-179160800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:179151600-179161200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:179151800-179154200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:179151800-179155000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:179152000-179153200	Enhancers	HUVEC	blood vessel
20	chr2:179152200-179153200	Enhancers	Fetal Intestine Large	intestine
21	chr2:179152400-179153200	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:179152600-179153200	Enhancers	K562	blood
23	chr2:179152800-179153200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:179152800-179153200	Enhancers	Placenta	Placenta
25	chr2:179153000-179153200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:179153000-179154400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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