Variant report

Variant	rs12618652
Chromosome Location	chr2:183922940-183922941
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	chr2:183917572..183921776-chr2:183922901..183926596,3	K562	blood:
2	chr2:183920485..183923141-chr2:183924718..183926570,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11889337	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12611998	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12612383	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12991342	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12992059	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12992669	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12994001	0.81[EUR][1000 genomes]
rs13000008	0.84[AMR][1000 genomes]
rs13009031	0.80[EUR][1000 genomes]
rs13010139	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16823896	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16823931	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16823936	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2138486	0.90[EUR][1000 genomes]
rs34192739	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34254952	0.80[EUR][1000 genomes]
rs34644467	0.80[EUR][1000 genomes]
rs34873881	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34930236	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35310711	0.85[EUR][1000 genomes]
rs35318802	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35368327	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35488919	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35566709	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35628169	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35720425	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35971883	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3791246	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4666604	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4666876	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4666881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4666882	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55739115	0.85[EUR][1000 genomes]
rs66829551	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6714190	0.80[EUR][1000 genomes]
rs6718462	0.85[EUR][1000 genomes]
rs6726085	0.80[EUR][1000 genomes]
rs6730183	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6735651	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6745341	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6761953	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71427864	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73042165	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73980539	0.83[EUR][1000 genomes]
rs7589630	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7599002	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7599011	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7607857	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr2:183918000-183933400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:183920000-183925200	Weak transcription	Small Intestine	intestine
3	chr2:183920400-183926600	Enhancers	Fetal Intestine Small	intestine
4	chr2:183921200-183923000	Enhancers	Stomach Mucosa	stomach
5	chr2:183921600-183923200	Enhancers	Fetal Brain Male	brain
6	chr2:183922000-183924200	Weak transcription	K562	blood
7	chr2:183922200-183924200	Weak transcription	Brain Anterior Caudate	brain
8	chr2:183922400-183923200	Enhancers	HepG2	liver
9	chr2:183922400-183924000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:183922400-183926600	Enhancers	Fetal Intestine Large	intestine
11	chr2:183922600-183923000	Enhancers	GM12878-XiMat	blood
12	chr2:183922600-183924200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:183922600-183925000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:183922600-183927200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:183922800-183923000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:183922800-183924200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:183922800-183924200	Weak transcription	A549	lung

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