Variant report

Variant	rs11888023
Chromosome Location	chr2:56006985-56006986
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56005948..56008265-chr2:56009209..56011349,2	MCF-7	breast:
2	chr2:56001266..56003966-chr2:56005988..56008584,2	K562	blood:
3	chr2:55942470..55944889-chr2:56004945..56007451,2	MCF-7	breast:
4	chr2:56006149..56008907-chr2:56021297..56024096,2	MCF-7	breast:
5	chr2:56006332..56008999-chr2:56065171..56067853,3	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10167227	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694967	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384182	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395798	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4991004	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723018	0.86[ASN][1000 genomes]
rs72807723	0.86[ASN][1000 genomes]
rs73940319	0.86[ASN][1000 genomes]
rs7571341	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv999962	chr2:55976574-56011517	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv997683	chr2:55976574-56013875	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv431080	chr2:55988293-56011517	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55989400-56015000	Weak transcription	Aorta	Aorta
2	chr2:56003600-56007200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:56005600-56008800	Enhancers	HSMM	muscle
4	chr2:56006000-56007000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:56006200-56010200	Enhancers	Hela-S3	cervix
6	chr2:56006400-56007000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:56006400-56008200	Flanking Active TSS	A549	lung
8	chr2:56006400-56008200	Enhancers	HSMMtube	muscle
9	chr2:56006400-56008200	Enhancers	Osteobl	bone
10	chr2:56006400-56009000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:56006600-56007000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:56006600-56007000	Flanking Active TSS	HMEC	breast
13	chr2:56006600-56007000	Flanking Active TSS	NH-A	brain
14	chr2:56006600-56007000	Flanking Active TSS	NHEK	skin
15	chr2:56006600-56007200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:56006600-56007200	Enhancers	Primary hematopoietic stem cells	blood
17	chr2:56006600-56007200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:56006600-56007200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr2:56006600-56007400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:56006600-56007400	Flanking Active TSS	HUVEC	blood vessel
21	chr2:56006600-56008200	Enhancers	GM12878-XiMat	blood
22	chr2:56006800-56007200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:56006800-56007800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:56006800-56007800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:56006800-56008000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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