Variant report

Variant	rs17023493
Chromosome Location	chr4:96240018-96240019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:96238634..96240749-chr4:96243544..96245524,2	K562	blood:
2	chr4:96237471..96240020-chr4:99477884..99480366,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10002089	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.80[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10006465	0.86[YRI][hapmap]
rs10023581	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10024121	0.89[CEU][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes]
rs10029550	0.84[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516964	1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs10516965	0.84[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[YRI][hapmap]
rs10516967	0.93[YRI][hapmap]
rs11097467	1.00[JPT][hapmap]
rs11735824	1.00[JPT][hapmap]
rs1384868	1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs1586163	1.00[JPT][hapmap]
rs17023523	0.93[YRI][hapmap]
rs17023540	0.84[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.84[TSI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17023543	1.00[JPT][hapmap];0.95[AFR][1000 genomes]
rs17023617	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17023624	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17023627	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17023644	1.00[JPT][hapmap]
rs17023654	0.85[CEU][hapmap]
rs17369242	0.99[EUR][1000 genomes]
rs2626054	1.00[JPT][hapmap]
rs2626055	1.00[JPT][hapmap]
rs28369639	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28417701	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28475150	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs28494154	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28526447	0.84[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.89[TSI][hapmap];0.82[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28621043	0.89[AFR][1000 genomes]
rs28631733	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6532552	1.00[JPT][hapmap]
rs66536449	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66625786	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66969062	0.93[AFR][1000 genomes]
rs67577599	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs67681548	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67892114	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6816110	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6821360	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6822806	0.85[CEU][hapmap];1.00[MEX][hapmap]
rs6848909	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6857369	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72676405	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72676414	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72676415	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72676421	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72676441	0.96[EUR][1000 genomes]
rs72676442	0.96[EUR][1000 genomes]
rs7687905	0.91[AFR][1000 genomes]
rs9991852	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9999043	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1001955	chr4:96216118-96445841	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96223000-96252400	Weak transcription	Fetal Lung	lung
2	chr4:96235600-96241000	Enhancers	Brain Substantia Nigra	brain
3	chr4:96236400-96240800	Enhancers	Brain Cingulate Gyrus	brain
4	chr4:96236800-96240600	Enhancers	Brain Angular Gyrus	brain
5	chr4:96237000-96241800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:96237400-96240200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:96237400-96240200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr4:96237400-96240800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:96237600-96240600	Enhancers	Brain Anterior Caudate	brain
10	chr4:96237600-96240800	Enhancers	Brain Hippocampus Middle	brain
11	chr4:96238200-96240200	Enhancers	Fetal Stomach	stomach
12	chr4:96238200-96240400	Enhancers	Fetal Brain Female	brain
13	chr4:96238200-96241000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:96238400-96240600	Enhancers	Fetal Heart	heart
15	chr4:96238400-96241200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:96238800-96240200	Enhancers	Brain Germinal Matrix	brain
17	chr4:96238800-96240400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:96239200-96241600	Weak transcription	Fetal Brain Male	brain
19	chr4:96239400-96240400	Enhancers	HSMMtube	muscle
20	chr4:96239400-96240800	Enhancers	Left Ventricle	heart
21	chr4:96239600-96240200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:96239600-96240200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:96239600-96240400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:96239600-96240400	Enhancers	HSMM	muscle
25	chr4:96239600-96250000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:96239600-96284400	Weak transcription	Aorta	Aorta
27	chr4:96239800-96240200	Enhancers	Osteobl	bone
28	chr4:96239800-96240800	Enhancers	Rectal Smooth Muscle	rectum
29	chr4:96240000-96242600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links