Variant report

Variant	rs1558654
Chromosome Location	chr2:40586447-40586448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40586222..40589135-chr2:40597627..40599804,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10165271	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10168748	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10192546	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11124739	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11690171	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12468092	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12712692	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12987979	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12988856	0.82[ASN][1000 genomes]
rs12989200	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12989852	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12995004	0.86[ASN][1000 genomes]
rs13014950	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13405065	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1558655	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34443271	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6544323	0.98[ASN][1000 genomes]
rs6544324	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6544325	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6544326	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6544329	0.97[ASN][1000 genomes]
rs6544330	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709574	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6738580	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6738673	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7594786	0.82[ASN][1000 genomes]
rs990270	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 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	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
2	chr2:40574600-40590600	Weak transcription	Aorta	Aorta
3	chr2:40576800-40587600	Weak transcription	NH-A	brain
4	chr2:40579600-40586800	Enhancers	Colon Smooth Muscle	Colon
5	chr2:40580200-40587600	Weak transcription	NHLF	lung
6	chr2:40580600-40586800	Weak transcription	NHDF-Ad	bronchial
7	chr2:40580600-40587600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:40580600-40587800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:40580600-40587800	Weak transcription	HMEC	breast
10	chr2:40581200-40587600	Weak transcription	HSMM	muscle
11	chr2:40581200-40590400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:40581200-40591800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:40581600-40591600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:40583200-40587600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:40583200-40587600	Weak transcription	Hela-S3	cervix
16	chr2:40583400-40587600	Weak transcription	Right Atrium	heart
17	chr2:40584400-40587600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:40584400-40588800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:40584600-40587600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:40584800-40589000	Enhancers	Osteobl	bone
21	chr2:40585200-40586800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:40585200-40590800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:40585600-40587600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:40585800-40587000	Enhancers	Stomach Smooth Muscle	stomach
25	chr2:40586000-40586800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:40586000-40586800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:40586000-40586800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:40586000-40586800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:40586200-40590800	Weak transcription	Brain Anterior Caudate	brain
30	chr2:40586400-40586600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:40586400-40586800	Genic enhancers	Fetal Heart	heart
32	chr2:40586400-40586800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr2:40586400-40592000	Weak transcription	Left Ventricle	heart

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