Variant report

Variant	rs11124739
Chromosome Location	chr2:40588641-40588642
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: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10165271	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10168748	0.87[ASN][1000 genomes]
rs10192546	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11690171	0.84[ASN][1000 genomes]
rs12468092	0.84[ASN][1000 genomes]
rs12712692	0.84[ASN][1000 genomes]
rs12987979	0.88[ASN][1000 genomes]
rs12989200	0.86[ASN][1000 genomes]
rs12989852	0.88[ASN][1000 genomes]
rs12995004	0.84[ASN][1000 genomes]
rs13014950	0.88[ASN][1000 genomes]
rs13405065	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1558654	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1558655	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6544323	0.88[ASN][1000 genomes]
rs6544324	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6544325	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6544326	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6544329	0.88[ASN][1000 genomes]
rs6544330	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6709574	0.84[ASN][1000 genomes]
rs6738580	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6738673	0.84[ASN][1000 genomes]
rs7594786	0.87[ASN][1000 genomes]
rs990270	0.83[AMR][1000 genomes];0.88[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:31 , 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	chr2:40581200-40590400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:40581200-40591800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:40581600-40591600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:40584400-40588800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:40584800-40589000	Enhancers	Osteobl	bone
8	chr2:40585200-40590800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:40586200-40590800	Weak transcription	Brain Anterior Caudate	brain
10	chr2:40586400-40592000	Weak transcription	Left Ventricle	heart
11	chr2:40586800-40593800	Enhancers	Fetal Heart	heart
12	chr2:40587400-40588800	Enhancers	NHDF-Ad	bronchial
13	chr2:40587600-40588800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:40587600-40588800	Enhancers	HSMM	muscle
15	chr2:40587600-40590600	Enhancers	Hela-S3	cervix
16	chr2:40587600-40591000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:40588000-40590200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:40588200-40590000	Weak transcription	NH-A	brain
19	chr2:40588200-40590400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:40588400-40589200	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:40588400-40589600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:40588400-40590000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:40588400-40590000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:40588400-40590000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:40588400-40590400	Weak transcription	Right Atrium	heart
26	chr2:40588400-40590800	Weak transcription	HMEC	breast
27	chr2:40588600-40590000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:40588600-40590400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:40588600-40590400	Weak transcription	NHLF	lung
30	chr2:40588600-40590600	Weak transcription	A549	lung
31	chr2:40588600-40590800	Weak transcription	HSMMtube	muscle

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