Variant report

Variant	rs998260
Chromosome Location	chr2:40543228-40543229
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	chr2:40533051..40534641-chr2:40542732..40544808,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11888123	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs11904139	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13001457	0.82[CEU][hapmap]
rs1477001	0.82[ASN][1000 genomes]
rs1990608	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2110744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2160236	0.80[CEU][hapmap];0.89[CHB][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2160237	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4952402	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6544315	0.83[ASN][1000 genomes]
rs6544316	0.83[ASN][1000 genomes]
rs6544317	0.83[ASN][1000 genomes]
rs6544318	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6748881	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs727477	0.83[CEU][hapmap]
rs759384	0.96[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[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	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	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40532000-40544800	Weak transcription	HSMM	muscle
2	chr2:40532000-40551800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:40533800-40543800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:40538000-40552000	Weak transcription	Left Ventricle	heart
5	chr2:40540000-40544000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:40541400-40543600	ZNF genes & repeats	Dnd41	blood
7	chr2:40542200-40546400	Enhancers	Hela-S3	cervix
8	chr2:40542400-40545400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:40542400-40549600	Enhancers	Fetal Heart	heart
10	chr2:40542400-40559800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:40542600-40545200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:40542600-40545400	Enhancers	NHDF-Ad	bronchial
13	chr2:40542600-40545600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:40542600-40545800	Enhancers	Osteobl	bone
15	chr2:40542800-40544600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:40542800-40545400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:40542800-40545400	Enhancers	Fetal Lung	lung
18	chr2:40542800-40556400	Weak transcription	Fetal Stomach	stomach
19	chr2:40543000-40545200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:40543000-40545400	Enhancers	NHLF	lung
21	chr2:40543000-40545600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:40543200-40543400	Enhancers	Fetal Kidney	kidney
23	chr2:40543200-40543600	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:40543200-40543800	Weak transcription	HMEC	breast
25	chr2:40543200-40544000	Enhancers	Aorta	Aorta
26	chr2:40543200-40545200	Enhancers	Rectal Smooth Muscle	rectum
27	chr2:40543200-40549400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood

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