Variant report

Variant	rs11892709
Chromosome Location	chr2:54617254-54617255
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54610202..54613159-chr2:54615102..54617874,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10084337	0.87[EUR][1000 genomes]
rs13428236	0.84[EUR][1000 genomes]
rs17045857	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17045859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17045866	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35821147	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62140272	1.00[ASN][1000 genomes]
rs62140273	1.00[ASN][1000 genomes]
rs62140299	1.00[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	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv532512	chr2:54453210-54630755	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54612400-54618200	Weak transcription	Fetal Brain Male	brain
2	chr2:54615400-54617800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:54615400-54617800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:54615400-54618200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:54615400-54621800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:54615400-54623000	Weak transcription	Lung	lung
7	chr2:54615400-54643000	Weak transcription	Right Ventricle	heart
8	chr2:54615600-54617800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:54615600-54617800	Weak transcription	Left Ventricle	heart
10	chr2:54615600-54617800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:54615600-54618000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:54615600-54618200	Weak transcription	Adipose Nuclei	Adipose
13	chr2:54615600-54618400	Weak transcription	Right Atrium	heart
14	chr2:54615600-54621400	Weak transcription	Osteobl	bone
15	chr2:54615600-54627800	Weak transcription	Ovary	ovary
16	chr2:54615800-54617400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:54615800-54621400	Weak transcription	NHDF-Ad	bronchial
18	chr2:54615800-54621800	Weak transcription	NHLF	lung
19	chr2:54616600-54618000	Enhancers	Brain Anterior Caudate	brain
20	chr2:54616600-54618200	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:54616600-54618400	Enhancers	Brain Substantia Nigra	brain
22	chr2:54616600-54618600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr2:54616800-54618000	Enhancers	Brain Angular Gyrus	brain
24	chr2:54616800-54618000	Enhancers	Fetal Muscle Leg	muscle
25	chr2:54616800-54618200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:54616800-54618600	Enhancers	Brain Hippocampus Middle	brain

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