Variant report

Variant	rs194236
Chromosome Location	chr2:72399541-72399542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1003672	0.81[ASN][1000 genomes]
rs10190799	0.81[ASN][1000 genomes]
rs10196589	0.81[ASN][1000 genomes]
rs10205108	0.81[ASN][1000 genomes]
rs10221769	0.81[ASN][1000 genomes]
rs10865390	0.81[ASN][1000 genomes]
rs11126362	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11126363	0.81[ASN][1000 genomes]
rs1159763	0.81[ASN][1000 genomes]
rs1159764	0.81[ASN][1000 genomes]
rs1159765	0.81[ASN][1000 genomes]
rs1159766	0.81[ASN][1000 genomes]
rs11681809	0.81[ASN][1000 genomes]
rs13418637	0.81[ASN][1000 genomes]
rs194235	0.81[ASN][1000 genomes]
rs194237	0.81[ASN][1000 genomes]
rs194238	0.81[ASN][1000 genomes]
rs194240	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs194241	0.81[ASN][1000 genomes]
rs194242	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs194243	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28278	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41387	0.81[ASN][1000 genomes]
rs41388	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41389	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41390	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41391	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41392	0.81[ASN][1000 genomes]
rs41393	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41394	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41395	0.81[ASN][1000 genomes]
rs41397	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41398	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41399	0.81[ASN][1000 genomes]
rs41400	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41401	0.81[ASN][1000 genomes]
rs41402	0.81[ASN][1000 genomes]
rs41403	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41405	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41406	0.81[ASN][1000 genomes]
rs41407	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41408	0.81[ASN][1000 genomes]
rs41412	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41414	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41418	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41419	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6546752	0.81[ASN][1000 genomes]
rs9309463	0.81[ASN][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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72393400-72402200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:72393400-72407600	Weak transcription	HMEC	breast
3	chr2:72393600-72401200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:72393600-72414800	Weak transcription	NHEK	skin
5	chr2:72394400-72402600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:72394400-72403000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:72394400-72409800	Weak transcription	A549	lung
8	chr2:72395000-72402400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:72396600-72401200	Weak transcription	Fetal Brain Female	brain
10	chr2:72397200-72403400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:72398200-72401000	Weak transcription	Fetal Stomach	stomach
12	chr2:72398400-72400000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:72398400-72407400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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