Variant report

Variant	rs4254099
Chromosome Location	chr11:113376856-113376857
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	chr11:113374950..113377772-chr11:113511064..113512851,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12364283	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12805897	1.00[CHB][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv556444	chr11:113234432-113383394	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113374800-113377000	Enhancers	Brain Germinal Matrix	brain
2	chr11:113374800-113377400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:113374800-113378400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr11:113374800-113378800	Enhancers	Brain Hippocampus Middle	brain
5	chr11:113374800-113379400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:113375200-113377400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:113375200-113378600	Enhancers	HMEC	breast
8	chr11:113375400-113378600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:113375400-113378600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:113375600-113377600	Enhancers	NH-A	brain
11	chr11:113375800-113377200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:113376000-113377000	Weak transcription	Right Atrium	heart
13	chr11:113376000-113377400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:113376000-113377400	Enhancers	NHEK	skin
15	chr11:113376200-113377200	Enhancers	HSMM	muscle
16	chr11:113376200-113377600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:113376200-113377600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:113376400-113377000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:113376600-113377000	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr11:113376600-113377200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr11:113376600-113377400	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr11:113376600-113377400	Bivalent Enhancer	HepG2	liver
23	chr11:113376800-113377200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:113376800-113377200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:113376800-113377600	Enhancers	Brain Substantia Nigra	brain
26	chr11:113376800-113379000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:113376800-113380200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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