Variant report

Variant	rs60327070
Chromosome Location	chr17:17283997-17283998
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	chr17:17283894..17285610-chr17:17289110..17290845,2	K562	blood:
2	chr17:17282517..17284843-chr17:17397818..17399697,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57228434	0.83[AMR][1000 genomes]
rs60974286	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6502588	0.82[EUR][1000 genomes]
rs73286419	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8068177	0.86[EUR][1000 genomes]
rs9909266	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17281000-17288600	Weak transcription	Fetal Lung	lung
2	chr17:17281200-17287400	Weak transcription	Fetal Brain Female	brain
3	chr17:17281400-17284400	Weak transcription	Fetal Brain Male	brain
4	chr17:17281600-17290600	Weak transcription	Esophagus	oesophagus
5	chr17:17282000-17285000	Enhancers	Brain Hippocampus Middle	brain
6	chr17:17282200-17285400	Enhancers	Brain Angular Gyrus	brain
7	chr17:17282200-17285400	Enhancers	Brain Cingulate Gyrus	brain
8	chr17:17282200-17285800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:17282200-17285800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:17282200-17285800	Enhancers	Brain Anterior Caudate	brain
11	chr17:17282200-17285800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr17:17282200-17285800	Enhancers	Brain Substantia Nigra	brain
13	chr17:17282200-17286200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:17282400-17286000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr17:17282800-17284200	Enhancers	Pancreas	Pancrea
16	chr17:17282800-17285200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:17282800-17285600	Enhancers	Brain Germinal Matrix	brain
18	chr17:17282800-17285800	Enhancers	Fetal Thymus	thymus
19	chr17:17283000-17284000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr17:17283000-17285000	Weak transcription	Hela-S3	cervix
21	chr17:17283000-17285400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr17:17283200-17284000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:17283200-17284000	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr17:17283400-17285400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:17283600-17284000	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr17:17283600-17284000	Bivalent Enhancer	HepG2	liver
27	chr17:17283600-17284400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:17283600-17284600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:17283800-17284200	Enhancers	Lung	lung

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