Variant report

Variant	rs73288279
Chromosome Location	chr17:18130944-18130945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:18127100..18135567-chr17:18158023..18168767,25	MCF-7	breast:
2	chr17:18127269..18131326-chr17:18216439..18220320,6	MCF-7	breast:
3	chr17:18125152..18133137-chr17:18145532..18152012,9	K562	blood:
4	chr17:18129178..18131592-chr17:18137709..18139287,2	MCF-7	breast:
5	chr17:18128887..18137475-chr17:18144772..18151698,11	K562	blood:
6	chr17:18130743..18132299-chr17:18139265..18141956,2	K562	blood:
7	chr17:18126073..18132705-chr17:18158327..18165323,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177302	Chromatin interaction
ENSG00000177731	Chromatin interaction
ENSG00000176994	Chromatin interaction
ENSG00000177427	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17855350	1.00[EUR][1000 genomes]
rs28694704	1.00[EUR][1000 genomes]
rs55854919	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56109231	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56180580	1.00[EUR][1000 genomes]
rs56735648	1.00[EUR][1000 genomes]
rs56793258	1.00[EUR][1000 genomes]
rs58115308	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58499955	1.00[EUR][1000 genomes]
rs59738176	1.00[EUR][1000 genomes]
rs59867698	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60320587	1.00[EUR][1000 genomes]
rs60510653	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60699593	1.00[EUR][1000 genomes]
rs60708953	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60814048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61361031	1.00[EUR][1000 genomes]
rs61576260	1.00[EUR][1000 genomes]
rs7207131	1.00[EUR][1000 genomes]
rs7207489	1.00[EUR][1000 genomes]
rs7213472	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7213789	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7219191	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7226015	1.00[EUR][1000 genomes]
rs73288297	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288302	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73289913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73980805	1.00[EUR][1000 genomes]
rs8064901	1.00[EUR][1000 genomes]
rs8068530	1.00[EUR][1000 genomes]
rs8069012	1.00[EUR][1000 genomes]
rs8071028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8071911	1.00[EUR][1000 genomes]
rs8074322	1.00[EUR][1000 genomes]
rs8080816	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8082574	0.91[AMR][1000 genomes]
rs9910599	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv1062828	chr17:18098110-18136330	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Enhancers 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	10 gene(s)	inside rSNPs	diseases
8	nsv543245	chr17:18098110-18136330	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	nsv907773	chr17:18099962-18206234	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv907774	chr17:18103907-18206234	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv907775	chr17:18108496-18206234	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv543246	chr17:18121007-18165604	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
13	nsv9503	chr17:18121474-18169166	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
14	nsv907776	chr17:18122485-18170948	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
15	nsv1066718	chr17:18125122-18180807	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18129600-18148400	Weak transcription	Small Intestine	intestine
2	chr17:18129800-18131200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:18129800-18131200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:18129800-18131200	Flanking Active TSS	Brain Substantia Nigra	brain
5	chr17:18129800-18137000	Weak transcription	Aorta	Aorta
6	chr17:18130000-18131400	Enhancers	Gastric	stomach
7	chr17:18130000-18131800	Weak transcription	Right Ventricle	heart
8	chr17:18130000-18133600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr17:18130000-18134200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:18130000-18136000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:18130000-18137000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:18130000-18137000	Weak transcription	Left Ventricle	heart
13	chr17:18130000-18137200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr17:18130000-18145400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr17:18130000-18148200	Weak transcription	Fetal Kidney	kidney
16	chr17:18130000-18148200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr17:18130000-18149200	Weak transcription	Psoas Muscle	Psoas
18	chr17:18130200-18131000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr17:18130200-18131200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:18130200-18131200	Enhancers	Placenta	Placenta
21	chr17:18130200-18131400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr17:18130200-18131600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr17:18130200-18131600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:18130200-18131800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr17:18130200-18132000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr17:18130200-18132200	Weak transcription	Ovary	ovary
27	chr17:18130200-18132800	Enhancers	Fetal Muscle Trunk	muscle
28	chr17:18130200-18134600	Genic enhancers	Fetal Stomach	stomach
29	chr17:18130200-18135200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr17:18130200-18135200	Weak transcription	Fetal Intestine Large	intestine
31	chr17:18130200-18135400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr17:18130200-18135400	Weak transcription	Thymus	Thymus
33	chr17:18130200-18135800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr17:18130200-18135800	Weak transcription	Pancreas	Pancrea
35	chr17:18130200-18136000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr17:18130200-18136000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr17:18130200-18136000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr17:18130200-18136800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr17:18130200-18137000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr17:18130200-18137000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr17:18130200-18137400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr17:18130200-18137400	Weak transcription	Colonic Mucosa	Colon
43	chr17:18130200-18138000	Weak transcription	HUVEC	blood vessel
44	chr17:18130200-18139600	Weak transcription	Primary B cells from cord blood	blood
45	chr17:18130200-18145600	Weak transcription	A549	lung
46	chr17:18130200-18147000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr17:18130200-18147000	Weak transcription	Liver	Liver
48	chr17:18130200-18150800	Weak transcription	Right Atrium	heart
49	chr17:18130400-18131200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr17:18130400-18131400	Weak transcription	Adipose Nuclei	Adipose

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