Variant report

Variant	rs73979241
Chromosome Location	chr17:17840672-17840673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17835824..17837340-chr17:17839112..17841856,2	K562	blood:
2	chr17:17835824..17837359-chr17:17839112..17843100,3	K562	blood:
3	chr17:17840484..17842784-chr17:17877898..17879445,2	MCF-7	breast:
4	chr17:17830467..17833990-chr17:17840176..17843911,4	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs16960878	1.00[EUR][1000 genomes]
rs16961971	1.00[EUR][1000 genomes]
rs16961993	1.00[EUR][1000 genomes]
rs16962003	1.00[EUR][1000 genomes]
rs28528721	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28595155	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28615278	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924814	1.00[EUR][1000 genomes]
rs4924815	1.00[EUR][1000 genomes]
rs4924816	1.00[EUR][1000 genomes]
rs4924818	1.00[EUR][1000 genomes]
rs4924819	1.00[EUR][1000 genomes]
rs4925107	1.00[EUR][1000 genomes]
rs4925111	1.00[EUR][1000 genomes]
rs4925113	1.00[EUR][1000 genomes]
rs59019513	1.00[EUR][1000 genomes]
rs59064231	1.00[EUR][1000 genomes]
rs59531660	1.00[EUR][1000 genomes]
rs59754425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60492230	1.00[EUR][1000 genomes]
rs73295666	1.00[EUR][1000 genomes]
rs73979203	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73979206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979207	1.00[EUR][1000 genomes]
rs73979242	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979247	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73981070	1.00[EUR][1000 genomes]
rs73981075	1.00[EUR][1000 genomes]
rs73981078	1.00[EUR][1000 genomes]
rs7405940	1.00[EUR][1000 genomes]
rs8081943	1.00[EUR][1000 genomes]
rs9889565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9895191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9897573	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9898044	1.00[EUR][1000 genomes]
rs9899537	1.00[EUR][1000 genomes]
rs9900884	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900947	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9908994	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9910488	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9944449	1.00[EUR][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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17828200-17861000	Weak transcription	Primary B cells from cord blood	blood
2	chr17:17828600-17858000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr17:17832400-17843600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr17:17832800-17843600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr17:17833000-17843600	Weak transcription	Fetal Stomach	stomach
6	chr17:17835000-17843800	Weak transcription	Aorta	Aorta
7	chr17:17836400-17841400	Enhancers	HSMMtube	muscle
8	chr17:17836400-17841800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr17:17836400-17841800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr17:17836400-17842000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr17:17836400-17842600	Enhancers	NHDF-Ad	bronchial
12	chr17:17836400-17853000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:17836600-17846600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr17:17836800-17841000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr17:17836800-17841800	Enhancers	NH-A	brain
16	chr17:17836800-17842600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:17836800-17842600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:17836800-17843800	Enhancers	Osteobl	bone
19	chr17:17836800-17846000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr17:17837000-17845400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:17837400-17841400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr17:17837400-17842400	Enhancers	Brain Anterior Caudate	brain
23	chr17:17837400-17842600	Enhancers	Brain Hippocampus Middle	brain
24	chr17:17837400-17847800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:17837600-17841600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:17837600-17841600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:17837600-17841800	Enhancers	Lung	lung
28	chr17:17837600-17842000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr17:17837600-17842400	Enhancers	Left Ventricle	heart
30	chr17:17837600-17842600	Enhancers	Placenta	Placenta
31	chr17:17837800-17844000	Enhancers	Fetal Heart	heart
32	chr17:17837800-17847600	Enhancers	HMEC	breast
33	chr17:17838000-17841000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr17:17838000-17841800	Enhancers	Brain Angular Gyrus	brain
35	chr17:17838000-17842600	Enhancers	Brain Substantia Nigra	brain
36	chr17:17838000-17844400	Enhancers	Fetal Intestine Large	intestine
37	chr17:17838000-17845000	Enhancers	Right Ventricle	heart
38	chr17:17838000-17848600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr17:17838200-17841000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr17:17838200-17841400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr17:17838200-17841600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr17:17838200-17841600	Enhancers	Pancreas	Pancrea
43	chr17:17838200-17841600	Enhancers	Spleen	Spleen
44	chr17:17838200-17841800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr17:17838200-17842000	Enhancers	Brain Cingulate Gyrus	brain
46	chr17:17838200-17842400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:17838200-17842600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr17:17838200-17843000	Enhancers	Fetal Intestine Small	intestine
49	chr17:17838200-17844600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr17:17838200-17845600	Enhancers	Right Atrium	heart

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