Variant report

Variant	rs16941829
Chromosome Location	chr17:45367669-45367670
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	chr17:45363175..45368028-chr17:45369299..45373237,4	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13306478	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16941740	0.96[AMR][1000 genomes]
rs16941863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16941864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2873530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56221506	0.86[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16941829	C17orf57	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45354600-45372000	Weak transcription	Esophagus	oesophagus
2	chr17:45356800-45377200	Weak transcription	Fetal Intestine Large	intestine
3	chr17:45357200-45371600	Weak transcription	Right Ventricle	heart
4	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
5	chr17:45357800-45369400	Weak transcription	Fetal Intestine Small	intestine
6	chr17:45358200-45371800	Weak transcription	Colonic Mucosa	Colon
7	chr17:45358200-45377200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr17:45358600-45371000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:45359000-45371600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr17:45359000-45372000	Weak transcription	Left Ventricle	heart
11	chr17:45359000-45389800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr17:45359800-45371200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr17:45360400-45371800	Strong transcription	Colon Smooth Muscle	Colon
14	chr17:45360600-45373800	Strong transcription	Fetal Stomach	stomach
15	chr17:45360800-45371800	Strong transcription	Fetal Muscle Leg	muscle
16	chr17:45361400-45370000	Strong transcription	Aorta	Aorta
17	chr17:45361400-45371400	Strong transcription	Stomach Smooth Muscle	stomach
18	chr17:45361800-45368200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:45362800-45370800	Weak transcription	HUVEC	blood vessel
20	chr17:45363200-45368000	Weak transcription	Liver	Liver
21	chr17:45364400-45371800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr17:45364600-45369400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr17:45365800-45370800	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr17:45366000-45369800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr17:45366000-45371400	Weak transcription	GM12878-XiMat	blood
26	chr17:45366200-45368200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:45366200-45370600	Weak transcription	Primary B cells from cord blood	blood
28	chr17:45366200-45371400	Weak transcription	HSMM	muscle
29	chr17:45366200-45372200	Weak transcription	Small Intestine	intestine
30	chr17:45366400-45368200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:45366400-45368200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:45366400-45368600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:45366400-45368600	Enhancers	K562	blood
34	chr17:45366400-45369000	Weak transcription	Fetal Heart	heart
35	chr17:45366400-45369400	Weak transcription	Ovary	ovary
36	chr17:45366400-45369600	Weak transcription	Gastric	stomach
37	chr17:45366400-45371400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr17:45366400-45371600	Weak transcription	Hela-S3	cervix
39	chr17:45366400-45371800	Weak transcription	Lung	lung
40	chr17:45366600-45367800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr17:45366600-45368000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:45366600-45371200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr17:45366600-45371200	Weak transcription	NH-A	brain
44	chr17:45366600-45371800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr17:45366600-45371800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr17:45366600-45371800	Weak transcription	Right Atrium	heart
47	chr17:45366800-45371800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr17:45367200-45368200	Strong transcription	Osteobl	bone
49	chr17:45367400-45368800	Strong transcription	HSMMtube	muscle
50	chr17:45367600-45368000	Strong transcription	Adipose Nuclei	Adipose

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