Variant report

Variant	rs11112550
Chromosome Location	chr12:105877766-105877767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs12317775	1.00[EUR][1000 genomes]
rs28452693	1.00[EUR][1000 genomes]
rs60274159	1.00[EUR][1000 genomes]
rs61048416	1.00[EUR][1000 genomes]
rs7298586	1.00[EUR][1000 genomes]
rs7315499	1.00[EUR][1000 genomes]
rs73383296	1.00[EUR][1000 genomes]
rs73383298	1.00[EUR][1000 genomes]
rs73383302	1.00[EUR][1000 genomes]
rs73385004	1.00[EUR][1000 genomes]
rs73385015	1.00[EUR][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	nsv899501	chr12:105819046-105950801	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1045689	chr12:105836970-105879110	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv899502	chr12:105862964-105904525	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105863200-105884200	Weak transcription	Right Atrium	heart
2	chr12:105869000-105878800	Weak transcription	Placenta	Placenta
3	chr12:105869200-105878800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:105874400-105877800	Enhancers	HUVEC	blood vessel
5	chr12:105874400-105878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:105874400-105878800	Weak transcription	NH-A	brain
7	chr12:105874400-105879000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:105874400-105879000	Weak transcription	A549	lung
9	chr12:105874400-105893600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:105874600-105877800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:105874600-105879200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:105874800-105878800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:105875000-105879200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:105875400-105878000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:105875400-105879000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:105875400-105904400	Weak transcription	Aorta	Aorta
17	chr12:105876200-105879000	Weak transcription	HSMM	muscle
18	chr12:105876400-105879600	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:105876400-105880400	Weak transcription	Fetal Kidney	kidney
20	chr12:105876400-105881800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:105877200-105878000	Enhancers	Lung	lung
22	chr12:105877200-105878800	Weak transcription	HSMMtube	muscle
23	chr12:105877600-105878000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr12:105877600-105878000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr12:105877600-105878200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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