Variant report

Variant	rs7568147
Chromosome Location	chr2:189423107-189423108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10153688	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10153871	0.92[EUR][1000 genomes]
rs10172178	0.96[EUR][1000 genomes]
rs10173411	0.81[EUR][1000 genomes]
rs10185750	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10203054	0.96[EUR][1000 genomes]
rs10804021	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10931363	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10931369	0.84[ASN][1000 genomes]
rs11685238	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11695316	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11902664	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12463744	0.84[ASN][1000 genomes]
rs12475894	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12476413	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12997039	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13012993	0.84[ASN][1000 genomes]
rs13025659	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13386581	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13386959	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13392850	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13393057	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13396968	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13397653	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13412448	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13413644	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13413752	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13414327	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13418031	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13424809	0.96[EUR][1000 genomes]
rs1354904	0.89[ASN][1000 genomes]
rs1354910	0.84[ASN][1000 genomes]
rs1507551	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1567184	0.89[ASN][1000 genomes]
rs1580993	0.84[ASN][1000 genomes]
rs1807235	0.96[EUR][1000 genomes]
rs4453658	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4577225	0.96[EUR][1000 genomes]
rs4667231	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55663622	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61045757	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6414119	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6434285	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6434286	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66641143	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6707212	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709557	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6722940	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6727633	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67425558	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744275	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6756504	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs698553	0.81[EUR][1000 genomes]
rs7419798	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7420808	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7423554	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7424421	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7582643	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7587596	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7596299	0.84[ASN][1000 genomes]
rs7602180	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8273	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv533110	chr2:189354436-189462552	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189383200-189423800	Weak transcription	Placenta	Placenta
2	chr2:189384800-189442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:189388200-189434000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:189406800-189425800	Weak transcription	Aorta	Aorta
5	chr2:189414400-189433600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:189414600-189453600	Weak transcription	HUVEC	blood vessel
7	chr2:189416400-189433600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:189417000-189445600	Weak transcription	NHLF	lung
9	chr2:189419800-189426600	Weak transcription	A549	lung
10	chr2:189420000-189425400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:189420200-189454800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:189420600-189463200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:189421200-189428000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:189421400-189450000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:189421800-189424000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:189421800-189425600	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr2:189421800-189425600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:189422000-189425200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:189422200-189425600	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr2:189422400-189423200	ZNF genes & repeats	Fetal Stomach	stomach
21	chr2:189422400-189425800	Weak transcription	Stomach Mucosa	stomach
22	chr2:189422600-189424000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:189422800-189423200	Weak transcription	Pancreas	Pancrea
24	chr2:189422800-189423600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:189422800-189423800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:189422800-189423800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:189422800-189423800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:189422800-189423800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:189422800-189426200	Strong transcription	Fetal Lung	lung
30	chr2:189422800-189426400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:189422800-189426400	Weak transcription	Gastric	stomach
32	chr2:189422800-189448800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:189423000-189423800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:189423000-189423800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:189423000-189424200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:189423000-189449800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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