Variant report

Variant	rs73324458
Chromosome Location	chr17:45500627-45500628
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs61020525	1.00[AFR][1000 genomes]
rs61274872	0.89[AFR][1000 genomes]
rs73320495	0.89[AFR][1000 genomes]
rs73320498	0.89[AFR][1000 genomes]
rs73322311	0.89[AFR][1000 genomes]
rs73322315	0.89[AFR][1000 genomes]
rs73322322	0.89[AFR][1000 genomes]
rs73324416	0.89[AFR][1000 genomes]
rs73324417	0.89[AFR][1000 genomes]
rs73324432	1.00[AFR][1000 genomes]
rs73324439	1.00[AFR][1000 genomes]
rs73324440	1.00[AFR][1000 genomes]
rs73324443	1.00[AFR][1000 genomes]
rs73324449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
2	nsv1062096	chr17:45416538-45518683	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv470590	chr17:45419138-45547077	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv457821	chr17:45419139-45547078	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv575462	chr17:45419139-45547078	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv908564	chr17:45422628-45522311	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1801088	chr17:45435575-45522311	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1056191	chr17:45442007-45519072	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv908566	chr17:45465735-45569714	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv962236	chr17:45472087-45501749	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv1806110	chr17:45477544-45673592	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv3419507	chr17:45500407-45506076	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45402200-45500800	Weak transcription	Aorta	Aorta
2	chr17:45490800-45502400	Weak transcription	HepG2	liver
3	chr17:45500200-45501200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:45500200-45501400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:45500400-45500800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
6	chr17:45500400-45500800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
7	chr17:45500400-45500800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr17:45500400-45500800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:45500400-45500800	Active TSS	HMEC	breast
10	chr17:45500400-45500800	Flanking Active TSS	HUVEC	blood vessel
11	chr17:45500400-45501400	Active TSS	GM12878-XiMat	blood
12	chr17:45500400-45501600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:45500400-45501800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr17:45500400-45501800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr17:45500400-45501800	Active TSS	Brain Angular Gyrus	brain
16	chr17:45500400-45501800	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr17:45500400-45502000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr17:45500400-45502000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr17:45500600-45500800	Active TSS	H1 Cell Line	embryonic stem cell
20	chr17:45500600-45500800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:45500600-45500800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
22	chr17:45500600-45500800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:45500600-45500800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr17:45500600-45500800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
25	chr17:45500600-45500800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr17:45500600-45500800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr17:45500600-45500800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:45500600-45500800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr17:45500600-45500800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr17:45500600-45500800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:45500600-45500800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:45500600-45500800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:45500600-45500800	Flanking Active TSS	Liver	Liver
34	chr17:45500600-45500800	Bivalent Enhancer	Colon Smooth Muscle	Colon
35	chr17:45500600-45500800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr17:45500600-45500800	Bivalent/Poised TSS	Fetal Brain Female	brain
37	chr17:45500600-45500800	Enhancers	Left Ventricle	heart
38	chr17:45500600-45500800	Enhancers	Lung	lung
39	chr17:45500600-45500800	Active TSS	Ovary	ovary
40	chr17:45500600-45500800	Active TSS	Right Atrium	heart
41	chr17:45500600-45500800	Bivalent/Poised TSS	Thymus	Thymus
42	chr17:45500600-45500800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
43	chr17:45500600-45500800	Flanking Active TSS	NH-A	brain
44	chr17:45500600-45501000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr17:45500600-45501000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr17:45500600-45501000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr17:45500600-45501000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr17:45500600-45501000	Active TSS	Colonic Mucosa	Colon
49	chr17:45500600-45501000	Active TSS	Right Ventricle	heart
50	chr17:45500600-45501200	Weak transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links