Variant report

Variant	rs2192773
Chromosome Location	chr2:40621750-40621751
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10165478	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10171704	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10177941	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10178405	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10181006	0.85[ASN][1000 genomes]
rs10181007	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10189274	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10192458	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11691852	0.90[ASN][1000 genomes]
rs12471797	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1477002	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1477004	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1477005	0.91[ASN][1000 genomes]
rs1861293	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2192776	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2192779	0.89[ASN][1000 genomes]
rs2373857	0.90[ASN][1000 genomes]
rs2373859	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2888676	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4446101	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4452199	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4452200	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4552227	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4588235	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4645043	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4952409	0.88[ASN][1000 genomes]
rs6544333	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6544334	0.87[ASN][1000 genomes]
rs6718322	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6745881	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6747285	0.92[ASN][1000 genomes]
rs7424049	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7574340	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7598561	0.83[ASN][1000 genomes]
rs7599953	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs918002	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9309055	0.91[ASN][1000 genomes]
rs967351	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs981739	0.88[ASN][1000 genomes]
rs984707	0.86[ASN][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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873916	chr2:40607504-40649084	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 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	chr2:40601000-40621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:40608400-40622000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:40609600-40621800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:40612600-40622600	Weak transcription	HSMM	muscle
5	chr2:40617000-40621800	Weak transcription	Osteobl	bone
6	chr2:40617200-40623600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:40617600-40622800	Enhancers	Fetal Heart	heart
8	chr2:40619000-40624600	Weak transcription	Right Atrium	heart
9	chr2:40620000-40622400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:40620200-40622000	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:40620800-40622800	Enhancers	Primary B cells from cord blood	blood
12	chr2:40621000-40622000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr2:40621000-40622200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr2:40621000-40622800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:40621000-40622800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:40621000-40623000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:40621000-40623000	Enhancers	Fetal Brain Male	brain
18	chr2:40621000-40623000	Enhancers	Placenta	Placenta
19	chr2:40621000-40623000	Enhancers	HMEC	breast
20	chr2:40621000-40624400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:40621200-40622000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:40621200-40622600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:40621200-40623000	Enhancers	NHEK	skin
24	chr2:40621200-40624800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr2:40621400-40621800	Enhancers	Adipose Nuclei	Adipose
26	chr2:40621400-40622400	Weak transcription	Liver	Liver
27	chr2:40621400-40622400	Enhancers	Fetal Brain Female	brain
28	chr2:40621400-40622400	Weak transcription	Fetal Lung	lung
29	chr2:40621400-40622400	Weak transcription	Left Ventricle	heart
30	chr2:40621400-40624400	Weak transcription	Right Ventricle	heart
31	chr2:40621600-40622000	Weak transcription	Dnd41	blood

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