Variant report

Variant	rs73126731
Chromosome Location	chr5:75003469-75003470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:75001250..75005615-chr5:75010572..75014500,9	K562	blood:
2	chr5:75001323..75004306-chr5:75007634..75010552,4	K562	blood:
3	chr5:74999928..75003890-chr5:75004473..75007549,3	K562	blood:

Variant related genes	Relation type
ENSG00000207333	Chromatin interaction
ENSG00000152359	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10056022	0.85[EUR][1000 genomes]
rs11748475	1.00[ASN][1000 genomes]
rs11749985	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750595	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16872770	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872776	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17563395	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17563512	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17564079	1.00[ASN][1000 genomes]
rs17648910	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17649030	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17649109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28493912	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34078310	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35130836	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58212453	1.00[ASN][1000 genomes]
rs58429194	0.82[EUR][1000 genomes]
rs58578970	1.00[ASN][1000 genomes]
rs6888261	0.89[AFR][1000 genomes]
rs6894099	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124778	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124801	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126706	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126735	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126742	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126745	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126747	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126758	1.00[ASN][1000 genomes]
rs73126775	1.00[ASN][1000 genomes]
rs73126781	0.88[ASN][1000 genomes]
rs73126786	0.88[ASN][1000 genomes]
rs7702134	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715739	0.93[EUR][1000 genomes];0.88[ASN][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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74965200-75011800	Weak transcription	Brain Germinal Matrix	brain
2	chr5:74965400-75012400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:74965400-75012400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:74965400-75012400	Weak transcription	Right Ventricle	heart
5	chr5:74965600-75010400	Weak transcription	Gastric	stomach
6	chr5:74965600-75011400	Weak transcription	Small Intestine	intestine
7	chr5:74971200-75012400	Weak transcription	Aorta	Aorta
8	chr5:74971200-75012400	Weak transcription	Brain Substantia Nigra	brain
9	chr5:74979000-75003800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:74980000-75012200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:74984200-75012400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:74986800-75005800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:74990000-75012000	Weak transcription	HSMMtube	muscle
14	chr5:74990000-75012400	Weak transcription	Esophagus	oesophagus
15	chr5:74992000-75012400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:74992400-75005800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:74992600-75012600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:74996400-75006400	Weak transcription	Stomach Mucosa	stomach
19	chr5:74996800-75012400	Weak transcription	Fetal Brain Male	brain
20	chr5:74997600-75004200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr5:74997600-75004200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr5:74997600-75004200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:74997600-75004400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:74997600-75004600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr5:74997600-75010200	Strong transcription	Dnd41	blood
26	chr5:74997600-75011000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:74998200-75010400	Weak transcription	Lung	lung
28	chr5:74998200-75011600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr5:74998200-75012400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:74998400-75011400	Weak transcription	HepG2	liver
31	chr5:74998600-75005800	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:74998600-75010400	Weak transcription	Spleen	Spleen
33	chr5:74998600-75011600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr5:74998600-75011600	Weak transcription	NHLF	lung
35	chr5:74998800-75005600	Weak transcription	NH-A	brain
36	chr5:74998800-75005800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:74998800-75005800	Weak transcription	Fetal Kidney	kidney
38	chr5:74998800-75005800	Weak transcription	Ovary	ovary
39	chr5:74998800-75006200	Weak transcription	Left Ventricle	heart
40	chr5:74998800-75007600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:74998800-75011400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:74998800-75011400	Weak transcription	Fetal Heart	heart
43	chr5:74998800-75011800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:74998800-75012000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:74998800-75012000	Weak transcription	Brain Anterior Caudate	brain
46	chr5:74998800-75012200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:74999000-75004000	Weak transcription	NHDF-Ad	bronchial
48	chr5:74999000-75004000	Weak transcription	NHEK	skin
49	chr5:74999000-75005800	Weak transcription	Adipose Nuclei	Adipose
50	chr5:74999000-75005800	Weak transcription	Thymus	Thymus

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