Variant report

Variant	rs6753246
Chromosome Location	chr2:179224133-179224134
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	chr2:179223973..179226797-chr2:179235702..179237273,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10497513	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10497514	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10930829	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11892094	0.80[EUR][1000 genomes]
rs1368905	0.93[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1368907	0.83[CEU][hapmap];0.91[GIH][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs1434084	0.89[GIH][hapmap]
rs1434089	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1812550	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1836203	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1836205	0.86[EUR][1000 genomes]
rs3813253	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4422196	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4894014	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55989867	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56366027	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6433722	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6754517	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6761421	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7559699	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7559711	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7572355	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs964165	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179183800-179247800	Weak transcription	Psoas Muscle	Psoas
2	chr2:179194600-179229400	Weak transcription	K562	blood
3	chr2:179195400-179229000	Weak transcription	Brain Substantia Nigra	brain
4	chr2:179198400-179227400	Weak transcription	NHEK	skin
5	chr2:179199000-179241200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:179199600-179240400	Weak transcription	Fetal Stomach	stomach
7	chr2:179201800-179240000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:179201800-179240400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:179201800-179240400	Weak transcription	HSMMtube	muscle
10	chr2:179201800-179253600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:179201800-179268200	Weak transcription	HSMM	muscle
12	chr2:179202400-179227400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:179202400-179230600	Weak transcription	Fetal Brain Male	brain
14	chr2:179202400-179248000	Weak transcription	NH-A	brain
15	chr2:179209200-179253000	Weak transcription	Esophagus	oesophagus
16	chr2:179209600-179227200	Weak transcription	HMEC	breast
17	chr2:179210800-179257200	Weak transcription	Pancreas	Pancrea
18	chr2:179213200-179229400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:179215200-179248800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:179215600-179239800	Weak transcription	Brain Anterior Caudate	brain
21	chr2:179216600-179226200	Weak transcription	Liver	Liver
22	chr2:179217400-179240400	Weak transcription	Aorta	Aorta
23	chr2:179217400-179248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:179217600-179239600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:179217600-179241800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:179217800-179239000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:179218200-179240000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:179219000-179248000	Weak transcription	Left Ventricle	heart
29	chr2:179221200-179227800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:179223600-179224600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:179223600-179224800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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