Variant report

Variant	rs11112748
Chromosome Location	chr12:106212414-106212415
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106211531..106213143-chr12:106215086..106217327,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10732669	0.82[CHB][hapmap];0.93[YRI][hapmap]
rs10735410	0.91[AFR][1000 genomes]
rs10735412	0.91[AFR][1000 genomes]
rs10735413	0.91[AFR][1000 genomes]
rs10746050	0.91[AFR][1000 genomes]
rs10778446	0.83[CHB][hapmap]
rs10778450	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10861517	0.87[AFR][1000 genomes]
rs12314159	0.84[AFR][1000 genomes]
rs1421445	0.88[AFR][1000 genomes]
rs1421446	0.88[AFR][1000 genomes]
rs1421447	0.91[AFR][1000 genomes]
rs1477238	0.87[AFR][1000 genomes]
rs2111975	0.91[AFR][1000 genomes]
rs4270016	0.88[AFR][1000 genomes]
rs4509866	0.82[CHB][hapmap];0.89[YRI][hapmap]
rs4964411	0.82[CHB][hapmap]
rs4964415	0.91[AFR][1000 genomes]
rs6539230	0.91[AFR][1000 genomes]
rs7302776	0.91[AFR][1000 genomes]
rs7309925	0.83[AFR][1000 genomes]
rs7311274	0.91[AFR][1000 genomes]
rs747855	0.85[ASN][1000 genomes]
rs747856	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7954604	0.83[CHB][hapmap];0.96[YRI][hapmap]
rs7968050	0.90[AFR][1000 genomes]
rs7968132	0.81[CHB][hapmap];0.97[YRI][hapmap]
rs7970318	0.91[AFR][1000 genomes]
rs7979193	0.84[AFR][1000 genomes]
rs7979632	0.84[AFR][1000 genomes]
rs878612	0.91[AFR][1000 genomes]
rs9634227	0.82[CHB][hapmap]
rs9634228	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1040261	chr12:106068992-106246582	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106207000-106214000	Weak transcription	Right Atrium	heart
2	chr12:106207000-106214400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:106207400-106212800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:106207400-106214000	Weak transcription	Aorta	Aorta
5	chr12:106207400-106215400	Weak transcription	Fetal Stomach	stomach
6	chr12:106207400-106216000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:106208200-106212600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:106208200-106215600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:106209000-106214000	Weak transcription	Right Ventricle	heart
10	chr12:106209000-106214600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:106209000-106214600	Weak transcription	Fetal Thymus	thymus
12	chr12:106211600-106214200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:106212200-106212800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:106212200-106213000	Weak transcription	Adipose Nuclei	Adipose
15	chr12:106212400-106212600	Enhancers	Ovary	ovary
16	chr12:106212400-106213000	Enhancers	Left Ventricle	heart
17	chr12:106212400-106213000	Enhancers	Lung	lung
18	chr12:106212400-106213000	Enhancers	Psoas Muscle	Psoas
19	chr12:106212400-106213000	Genic enhancers	HSMMtube	muscle
20	chr12:106212400-106215400	Enhancers	Liver	Liver
21	chr12:106212400-106216000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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