Variant report

Variant	rs7592090
Chromosome Location	chr2:38753108-38753109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38751112..38753312-chr2:38768692..38771301,2	K562	blood:
2	chr2:38748763..38750578-chr2:38752263..38755021,2	K562	blood:
3	chr2:38751052..38753238-chr2:38767165..38769647,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12105827	0.90[ASN][1000 genomes]
rs12622497	0.86[EUR][1000 genomes]
rs12622526	0.87[EUR][1000 genomes]
rs12993657	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003268	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13004207	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13008970	0.99[ASN][1000 genomes]
rs13011825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13017981	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13033060	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13382384	0.87[EUR][1000 genomes]
rs13383838	0.86[EUR][1000 genomes]
rs17421378	0.82[ASN][1000 genomes]
rs17421399	0.90[ASN][1000 genomes]
rs17493321	0.89[ASN][1000 genomes]
rs34171322	0.87[ASN][1000 genomes]
rs34218951	0.86[ASN][1000 genomes]
rs34311924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34355269	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34655983	0.97[ASN][1000 genomes]
rs35066504	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35120096	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35275207	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35299812	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35704960	0.97[ASN][1000 genomes]
rs35789272	0.97[ASN][1000 genomes]
rs35803605	0.87[ASN][1000 genomes]
rs3731843	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59239099	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72795132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7574556	0.86[ASN][1000 genomes]
rs7584009	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7603200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7606253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38745000-38753400	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:38750600-38753400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:38750800-38755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:38750800-38755400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:38751000-38755000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:38751000-38755000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:38751000-38755000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:38751200-38755000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:38751200-38762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:38751600-38753200	Enhancers	Adipose Nuclei	Adipose
11	chr2:38751800-38754800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:38751800-38755200	Weak transcription	Aorta	Aorta
13	chr2:38751800-38755200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:38752200-38755000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:38752200-38755000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:38752200-38755000	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:38752200-38755000	Weak transcription	Psoas Muscle	Psoas
18	chr2:38752200-38755200	Weak transcription	Primary B cells from cord blood	blood
19	chr2:38752200-38755200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:38752200-38755400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:38752200-38760200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:38752400-38753400	Weak transcription	Ovary	ovary
23	chr2:38752400-38753400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:38752400-38755000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:38752400-38755000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:38752600-38753400	Enhancers	NHDF-Ad	bronchial
27	chr2:38752600-38754400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:38752600-38754800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:38752800-38754600	Weak transcription	NHLF	lung
30	chr2:38753000-38753400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:38753000-38753400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:38753000-38753800	Enhancers	Osteobl	bone
33	chr2:38753000-38754000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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