Variant report

Variant	rs73979242
Chromosome Location	chr17:17847168-17847169
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17583605..17586446-chr17:17846960..17849199,2	K562	blood:
2	chr17:17841663..17844625-chr17:17845017..17847757,2	MCF-7	breast:
3	chr17:17791829..17793530-chr17:17846547..17848415,2	K562	blood:
4	chr17:17846210..17848871-chr17:17854659..17856269,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108557	Chromatin interaction

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	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28595155	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28615278	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	1.00[EUR][1000 genomes]
rs73979206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979207	1.00[EUR][1000 genomes]
rs73979241	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979247	0.90[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	0.89[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900947	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9908994	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9910488	0.89[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:120 , 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	chr17:17836400-17853000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:17837400-17847800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:17837800-17847600	Enhancers	HMEC	breast
6	chr17:17838000-17848600	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr17:17839400-17858800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:17839400-17860200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr17:17839800-17859800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr17:17841000-17847400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr17:17843000-17848400	Enhancers	NHLF	lung
12	chr17:17843200-17847600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:17843200-17848400	Enhancers	Left Ventricle	heart
14	chr17:17843200-17848600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr17:17843400-17848200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr17:17843400-17848600	Enhancers	Ovary	ovary
17	chr17:17843400-17849000	Enhancers	Fetal Lung	lung
18	chr17:17843600-17847200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr17:17843600-17847600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:17843600-17847800	Enhancers	Brain Hippocampus Middle	brain
21	chr17:17843600-17848000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr17:17843600-17848000	Enhancers	Brain Substantia Nigra	brain
23	chr17:17843600-17848200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr17:17843600-17848200	Enhancers	NHDF-Ad	bronchial
25	chr17:17843600-17848400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:17843600-17848400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr17:17843600-17848600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr17:17843800-17847200	Enhancers	A549	lung
29	chr17:17843800-17847400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr17:17843800-17847800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr17:17843800-17848200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:17843800-17848400	Enhancers	Lung	lung
33	chr17:17843800-17849000	Enhancers	Brain Anterior Caudate	brain
34	chr17:17844200-17847400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:17844200-17847600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr17:17844400-17847600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr17:17844400-17847600	Weak transcription	Fetal Brain Male	brain
38	chr17:17844400-17848800	Enhancers	Fetal Heart	heart
39	chr17:17844600-17847400	Weak transcription	Fetal Brain Female	brain
40	chr17:17844800-17859800	Weak transcription	Colonic Mucosa	Colon
41	chr17:17844800-17861400	Weak transcription	Liver	Liver
42	chr17:17845400-17849000	Enhancers	HepG2	liver
43	chr17:17845400-17849600	Enhancers	Fetal Intestine Large	intestine
44	chr17:17845800-17847800	Enhancers	Stomach Mucosa	stomach
45	chr17:17845800-17848400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr17:17846000-17847200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr17:17846000-17847400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr17:17846000-17847400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr17:17846000-17847400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr17:17846000-17847400	Enhancers	K562	blood

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