Variant report

Variant	rs73126432
Chromosome Location	chr1:224358058-224358059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12239040	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57105953	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57441274	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58828252	0.85[AMR][1000 genomes]
rs59738860	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59766308	0.85[AMR][1000 genomes]
rs60172546	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60877434	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60998173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61022093	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6681511	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73122502	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73124408	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73124414	0.86[AFR][1000 genomes]
rs73124430	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73124458	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73124460	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73124474	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73124499	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73126403	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7546034	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:224339200-224363200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:224345400-224363400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:224345600-224363400	Weak transcription	Ovary	ovary
5	chr1:224346400-224370000	Weak transcription	Esophagus	oesophagus
6	chr1:224346600-224358200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:224346600-224363200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:224346600-224363200	Weak transcription	Fetal Stomach	stomach
9	chr1:224346600-224363400	Weak transcription	Right Ventricle	heart
10	chr1:224346600-224363400	Weak transcription	Spleen	Spleen
11	chr1:224348400-224358200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:224350200-224358200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:224355400-224359200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:224355600-224359000	Enhancers	Placenta	Placenta
15	chr1:224356000-224358600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:224356000-224358600	Enhancers	Fetal Thymus	thymus
17	chr1:224356000-224359000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:224356200-224359000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:224356200-224359000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr1:224356200-224359200	Enhancers	Primary B cells from peripheral blood	blood
21	chr1:224356400-224358400	Enhancers	HepG2	liver
22	chr1:224356400-224358400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr1:224356400-224358600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:224356400-224358600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:224356400-224359000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:224356400-224359000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:224356400-224359000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:224356400-224359000	Enhancers	NHEK	skin
29	chr1:224356600-224358400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:224356600-224358400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr1:224356600-224358400	Enhancers	NH-A	brain
32	chr1:224356600-224358400	Enhancers	NHLF	lung
33	chr1:224356600-224358600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:224356600-224358600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr1:224356600-224358600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:224356600-224358600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:224356600-224358600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:224356600-224358600	Enhancers	Thymus	Thymus
39	chr1:224356800-224358600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr1:224356800-224359000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:224357000-224358200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:224357000-224358200	Enhancers	A549	lung
43	chr1:224357000-224358200	Weak transcription	HMEC	breast
44	chr1:224357000-224358400	Weak transcription	Right Atrium	heart
45	chr1:224357000-224358600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr1:224357000-224359000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr1:224357000-224363200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:224357200-224358200	Enhancers	Primary hematopoietic stem cells	blood
49	chr1:224357200-224358200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:224357200-224358200	Weak transcription	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links