Variant report

Variant	rs1434081
Chromosome Location	chr2:179183440-179183441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179182101..179184343-chr2:179194524..179196984,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12471986	1.00[CHB][hapmap]
rs1368903	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1368907	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16866260	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16866263	1.00[JPT][hapmap]
rs16866274	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16866276	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs334595	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs334596	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334597	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs334598	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334601	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334605	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs334607	1.00[CHB][hapmap]
rs334609	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs334615	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4893851	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894010	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433718	1.00[CHB][hapmap]
rs6433719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725937	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7585689	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179143200-179188600	Weak transcription	Brain Anterior Caudate	brain
2	chr2:179160200-179188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:179164600-179200800	Weak transcription	Aorta	Aorta
4	chr2:179176200-179198000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:179180600-179183600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:179180600-179184000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:179180800-179184400	Weak transcription	Liver	Liver
8	chr2:179181000-179188600	Weak transcription	K562	blood
9	chr2:179182400-179184800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:179182400-179185400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:179182600-179183800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:179182800-179183600	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:179183200-179183800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:179183400-179183800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:179183400-179183800	Enhancers	Psoas Muscle	Psoas
16	chr2:179183400-179184200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:179183400-179184600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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