Variant report

Variant	rs12529050
Chromosome Location	chr6:164258243-164258244
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	chr6:164242074..164244714-chr6:164257736..164260576,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1026707	chr6:164188210-164749206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv538527	chr6:164188210-164749206	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv1798922	chr6:164257563-164298780	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164255800-164258800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:164256000-164258400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:164256800-164260600	Enhancers	Fetal Heart	heart
4	chr6:164257000-164258800	Weak transcription	Right Ventricle	heart
5	chr6:164257400-164258400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:164257600-164258600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:164257600-164258800	Enhancers	Fetal Lung	lung
8	chr6:164257600-164258800	Enhancers	Fetal Stomach	stomach
9	chr6:164257800-164258400	Enhancers	Fetal Brain Male	brain
10	chr6:164257800-164258600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:164257800-164259200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:164257800-164259600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:164258000-164258400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:164258000-164258600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:164258000-164258600	Enhancers	Fetal Muscle Leg	muscle
16	chr6:164258000-164258800	Active TSS	Brain Cingulate Gyrus	brain
17	chr6:164258200-164258400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:164258200-164258400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:164258200-164258400	Active TSS	Brain Angular Gyrus	brain
20	chr6:164258200-164258400	Flanking Active TSS	Fetal Brain Female	brain
21	chr6:164258200-164258400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr6:164258200-164258400	Bivalent Enhancer	A549	lung
23	chr6:164258200-164258600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:164258200-164258600	Active TSS	Brain Germinal Matrix	brain
25	chr6:164258200-164258800	Active TSS	Brain Hippocampus Middle	brain
26	chr6:164258200-164258800	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr6:164258200-164258800	Enhancers	Colon Smooth Muscle	Colon
28	chr6:164258200-164259200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:164258200-164259200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr6:164258200-164259400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:164258200-164259400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:164258200-164259400	Active TSS	Brain Anterior Caudate	brain
33	chr6:164258200-164259400	Active TSS	Brain Substantia Nigra	brain

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