Variant report

Variant	rs7424421
Chromosome Location	chr2:189363142-189363143
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189157000..189158643-chr2:189362497..189364899,2	MCF-7	breast:
2	chr2:189357879..189360494-chr2:189362422..189365223,2	K562	blood:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10153688	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10153871	0.82[EUR][1000 genomes]
rs10185750	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10804021	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10931363	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685238	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902664	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475894	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12476413	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12997039	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13025659	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386581	0.82[EUR][1000 genomes]
rs13386959	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392850	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396968	0.82[EUR][1000 genomes]
rs13397653	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412448	0.82[EUR][1000 genomes]
rs13414327	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418031	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4453658	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667231	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55663622	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6414119	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434285	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434286	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66641143	0.82[EUR][1000 genomes]
rs6707212	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6709557	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6722940	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727633	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67425558	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6744275	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756504	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7419798	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420808	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7422739	1.00[ASN][1000 genomes]
rs7423554	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];0.82[EUR][1000 genomes]
rs7582643	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587596	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600043	0.83[AFR][1000 genomes]
rs7602180	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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	chr2:189334600-189367600	Weak transcription	Fetal Lung	lung
3	chr2:189344000-189370200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:189344200-189390400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:189353000-189366400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:189355800-189382400	Weak transcription	Gastric	stomach
7	chr2:189356000-189370800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:189356400-189370000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:189356400-189371200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:189356400-189373600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:189356800-189371000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:189357000-189370000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:189357800-189371000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:189358800-189369800	Weak transcription	Placenta	Placenta
15	chr2:189359200-189382200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:189361200-189364200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:189361200-189366000	Weak transcription	HUVEC	blood vessel
18	chr2:189361600-189364200	Weak transcription	HSMM	muscle
19	chr2:189361600-189371200	Weak transcription	Pancreas	Pancrea
20	chr2:189361800-189364200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:189361800-189364200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:189361800-189371400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:189361800-189371600	Weak transcription	Aorta	Aorta
24	chr2:189361800-189392000	Weak transcription	Ovary	ovary
25	chr2:189362600-189363200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:189362600-189364000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:189362800-189364000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:189362800-189382200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:189363000-189364000	Weak transcription	Osteobl	bone
30	chr2:189363000-189364200	Weak transcription	NH-A	brain
31	chr2:189363000-189364600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:189363000-189367400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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