Variant report

Variant	rs7423554
Chromosome Location	chr2:189385979-189385980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10153688	0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10153871	0.88[EUR][1000 genomes]
rs10172178	0.85[EUR][1000 genomes]
rs10185750	0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189197	1.00[JPT][hapmap]
rs10199260	1.00[JPT][hapmap]
rs10203054	0.85[EUR][1000 genomes]
rs10804021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10931353	1.00[CEU][hapmap]
rs10931357	1.00[CEU][hapmap]
rs10931363	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679949	1.00[CEU][hapmap]
rs11683909	1.00[CEU][hapmap]
rs11683969	1.00[CEU][hapmap]
rs11685238	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685643	1.00[CEU][hapmap]
rs11693105	1.00[CEU][hapmap]
rs11695177	1.00[CEU][hapmap]
rs11695316	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11902664	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151605	1.00[CEU][hapmap]
rs12463744	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12475894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12476413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12693497	1.00[JPT][hapmap]
rs12995727	1.00[JPT][hapmap]
rs12997039	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13025659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386581	0.88[EUR][1000 genomes]
rs13386959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13393057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs13393442	1.00[CEU][hapmap]
rs13396968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs13397653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs13413644	0.85[EUR][1000 genomes]
rs13414327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424809	0.85[EUR][1000 genomes]
rs1354902	1.00[JPT][hapmap]
rs1354904	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1354910	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1507551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1567184	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1807235	0.85[EUR][1000 genomes]
rs4453658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4577225	0.85[EUR][1000 genomes]
rs4667229	1.00[JPT][hapmap]
rs4667231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55663622	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61045757	0.85[EUR][1000 genomes]
rs6414119	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434277	1.00[JPT][hapmap]
rs6434285	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434286	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66641143	0.89[EUR][1000 genomes]
rs6707212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6709557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720983	1.00[JPT][hapmap]
rs6722940	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727633	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67425558	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6744275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7419798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7421510	1.00[CEU][hapmap]
rs7422739	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7423329	1.00[CEU][hapmap]
rs7424421	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568147	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7571197	1.00[JPT][hapmap]
rs7579593	1.00[CEU][hapmap]
rs7582643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600043	0.81[EUR][1000 genomes]
rs7602180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8273	1.00[CHB][hapmap]

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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189329200-189399000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:189344200-189390400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:189361800-189392000	Weak transcription	Ovary	ovary
4	chr2:189371800-189394000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:189377000-189387400	Weak transcription	Fetal Lung	lung
6	chr2:189381000-189394200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:189381600-189387400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:189382400-189393600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:189382400-189394000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:189382800-189394800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:189383200-189422000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:189383200-189423800	Weak transcription	Placenta	Placenta
13	chr2:189383400-189386200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:189383400-189388200	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:189383400-189391200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:189383600-189387400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:189383600-189389600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:189384400-189388800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:189384800-189387400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:189384800-189387600	Weak transcription	NHLF	lung
21	chr2:189384800-189388600	Weak transcription	HUVEC	blood vessel
22	chr2:189384800-189390400	Weak transcription	Fetal Stomach	stomach
23	chr2:189384800-189390400	Weak transcription	NHDF-Ad	bronchial
24	chr2:189384800-189391400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:189384800-189391800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:189384800-189395000	Weak transcription	Gastric	stomach
27	chr2:189384800-189442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:189385000-189387400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:189385200-189388800	Weak transcription	Osteobl	bone
30	chr2:189385200-189391600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:189385400-189396400	Weak transcription	Psoas Muscle	Psoas
32	chr2:189385800-189391000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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