Variant report

Variant	rs73301865
Chromosome Location	chr17:17837805-17837806
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs56790053	0.87[AFR][1000 genomes]
rs59948477	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60387072	1.00[AMR][1000 genomes]
rs73299834	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299839	1.00[AMR][1000 genomes]
rs73299846	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299887	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301842	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303830	0.93[AFR][1000 genomes]
rs73303831	0.93[AFR][1000 genomes]
rs73303840	0.88[AFR][1000 genomes]
rs8066353	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8070462	0.88[AFR][1000 genomes]
rs8077514	1.00[AMR][1000 genomes]
rs8080949	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17810800-17838400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr17:17811400-17838400	Weak transcription	Primary T cells from cord blood	blood
3	chr17:17817800-17838200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr17:17823200-17838000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr17:17823200-17838200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr17:17823400-17838200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr17:17824800-17838200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:17826200-17838400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr17:17826200-17838400	Weak transcription	Small Intestine	intestine
10	chr17:17826600-17838000	Weak transcription	Hela-S3	cervix
11	chr17:17827000-17838400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr17:17827200-17840400	Weak transcription	Colon Smooth Muscle	Colon
13	chr17:17828200-17861000	Weak transcription	Primary B cells from cord blood	blood
14	chr17:17828600-17858000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr17:17830800-17838000	Weak transcription	Fetal Intestine Large	intestine
16	chr17:17830800-17838600	Weak transcription	A549	lung
17	chr17:17830800-17839000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr17:17830800-17840600	Weak transcription	Fetal Thymus	thymus
19	chr17:17831200-17838000	Weak transcription	Esophagus	oesophagus
20	chr17:17832000-17838200	Weak transcription	Pancreas	Pancrea
21	chr17:17832400-17839200	Weak transcription	Liver	Liver
22	chr17:17832400-17843600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr17:17832600-17838200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr17:17832600-17838400	Weak transcription	Adipose Nuclei	Adipose
25	chr17:17832800-17838200	Weak transcription	Spleen	Spleen
26	chr17:17832800-17843600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr17:17833000-17843600	Weak transcription	Fetal Stomach	stomach
28	chr17:17833200-17838200	Weak transcription	Fetal Brain Male	brain
29	chr17:17833200-17839200	Weak transcription	Fetal Kidney	kidney
30	chr17:17833400-17838200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:17833400-17838200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr17:17833400-17838400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr17:17833400-17839200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:17833400-17839200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr17:17833400-17840600	Weak transcription	Fetal Muscle Leg	muscle
36	chr17:17833600-17838000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr17:17833600-17838600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr17:17833600-17840600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr17:17833800-17838000	Weak transcription	Ovary	ovary
40	chr17:17833800-17838000	Weak transcription	Right Ventricle	heart
41	chr17:17834800-17838200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr17:17835000-17843800	Weak transcription	Aorta	Aorta
43	chr17:17835200-17838000	Weak transcription	Brain Substantia Nigra	brain
44	chr17:17835200-17838200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr17:17835200-17838400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr17:17835200-17838800	Weak transcription	Psoas Muscle	Psoas
47	chr17:17835400-17838000	Weak transcription	Brain Angular Gyrus	brain
48	chr17:17835400-17838800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr17:17836200-17838600	Weak transcription	HepG2	liver
50	chr17:17836400-17838800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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