Variant report

Variant	rs56054716
Chromosome Location	chr17:17917121-17917122
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17910988..17913455-chr17:17916505..17918052,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs16960767	1.00[AMR][1000 genomes]
rs16960818	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56153053	1.00[AMR][1000 genomes]
rs56160247	1.00[AMR][1000 genomes]
rs56232485	1.00[AMR][1000 genomes]
rs56928492	1.00[AMR][1000 genomes]
rs57082481	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57277459	1.00[AMR][1000 genomes]
rs57791826	1.00[AMR][1000 genomes]
rs58219643	1.00[AMR][1000 genomes]
rs58376085	1.00[AMR][1000 genomes]
rs58676524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58936409	1.00[AMR][1000 genomes]
rs61050785	1.00[AMR][1000 genomes]
rs61060916	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61188141	1.00[AMR][1000 genomes]
rs61256737	1.00[AMR][1000 genomes]
rs7218054	1.00[AMR][1000 genomes]
rs7218246	1.00[AMR][1000 genomes]
rs7218594	1.00[AMR][1000 genomes]
rs7221934	1.00[AMR][1000 genomes]
rs7224621	1.00[AMR][1000 genomes]
rs73297834	1.00[AMR][1000 genomes]
rs73297855	1.00[AMR][1000 genomes]
rs73297868	1.00[AMR][1000 genomes]
rs73299861	1.00[AMR][1000 genomes]
rs73299873	1.00[AMR][1000 genomes]
rs73299892	1.00[AMR][1000 genomes]
rs73301827	1.00[AMR][1000 genomes]
rs73301859	1.00[AMR][1000 genomes]
rs73301894	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303812	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303813	1.00[AMR][1000 genomes]
rs73303833	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303854	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303856	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303857	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305952	1.00[AMR][1000 genomes]
rs73979211	1.00[AMR][1000 genomes]
rs73979217	1.00[AMR][1000 genomes]
rs73979243	1.00[AMR][1000 genomes]
rs73981076	1.00[AMR][1000 genomes]
rs8066528	1.00[AMR][1000 genomes]
rs8066865	1.00[AMR][1000 genomes]
rs8078368	1.00[AMR][1000 genomes]
rs8078811	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv510701	chr17:17850474-17955485	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17894000-17920600	Weak transcription	Stomach Mucosa	stomach
2	chr17:17898200-17918000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr17:17898200-17918000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr17:17898600-17917600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr17:17906200-17941400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr17:17906600-17929000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:17908000-17918000	Weak transcription	Brain Germinal Matrix	brain
8	chr17:17908200-17917600	Weak transcription	GM12878-XiMat	blood
9	chr17:17908200-17921800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr17:17908400-17918400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr17:17908400-17928400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr17:17908600-17932200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:17908800-17941200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr17:17909400-17918800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr17:17909600-17920800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:17910000-17918400	Weak transcription	Brain Substantia Nigra	brain
17	chr17:17910200-17926400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr17:17910400-17918600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr17:17910400-17918800	Weak transcription	Right Ventricle	heart
20	chr17:17910400-17923200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr17:17910400-17924400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr17:17910800-17925800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr17:17910800-17929200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr17:17911000-17918000	Weak transcription	Placenta	Placenta
25	chr17:17911000-17930600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:17911200-17918600	Weak transcription	Esophagus	oesophagus
27	chr17:17911200-17918600	Weak transcription	Fetal Thymus	thymus
28	chr17:17911200-17920600	Weak transcription	Brain Hippocampus Middle	brain
29	chr17:17911400-17918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:17911400-17923800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr17:17911600-17923200	Weak transcription	Hela-S3	cervix
32	chr17:17912000-17918600	Weak transcription	Brain Angular Gyrus	brain
33	chr17:17912000-17928800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr17:17912000-17930800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:17912200-17917600	Weak transcription	Colon Smooth Muscle	Colon
36	chr17:17912200-17918200	Weak transcription	Brain Anterior Caudate	brain
37	chr17:17912200-17918800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr17:17912400-17917600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr17:17912400-17918200	Weak transcription	Liver	Liver
40	chr17:17912400-17918600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr17:17912400-17919000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:17912400-17928400	Weak transcription	NHDF-Ad	bronchial
43	chr17:17912600-17920600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr17:17912800-17918600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr17:17912800-17920800	Weak transcription	Osteobl	bone
46	chr17:17913000-17917800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr17:17913000-17918800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr17:17913000-17920600	Weak transcription	HepG2	liver
49	chr17:17913000-17924600	Weak transcription	NHLF	lung
50	chr17:17913000-17928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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