Variant report

Variant	rs151102
Chromosome Location	chr5:98283330-98283331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:98261995..98270397-chr5:98280624..98292060,15	K562	blood:
2	chr5:98263097..98266968-chr5:98281665..98283543,3	K562	blood:
3	chr5:98275105..98276792-chr5:98280634..98283981,3	K562	blood:
4	chr5:98274709..98276765-chr5:98282972..98284478,2	K562	blood:

Variant related genes	Relation type
ENSG00000248489	Chromatin interaction
ENSG00000153922	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10038192	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10040066	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10050423	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10076291	0.82[EUR][1000 genomes]
rs10479345	0.82[EUR][1000 genomes]
rs10479346	0.82[EUR][1000 genomes]
rs1093794	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1104262	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11242567	1.00[CHB][hapmap]
rs11949103	0.82[EUR][1000 genomes]
rs11950452	0.81[EUR][1000 genomes]
rs11950855	0.82[EUR][1000 genomes]
rs11960896	0.81[EUR][1000 genomes]
rs12189335	0.82[EUR][1000 genomes]
rs13179812	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs1472622	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs150992	0.83[CEU][hapmap];0.83[GIH][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs161729	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs161731	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs161732	1.00[CHB][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs161735	0.83[CEU][hapmap]
rs161740	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs161747	0.83[CEU][hapmap];0.84[TSI][hapmap]
rs161935	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs161936	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs161948	0.86[EUR][1000 genomes]
rs161950	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs161952	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs162337	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162341	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs172874	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1875529	1.00[CHB][hapmap]
rs2221268	1.00[CHB][hapmap]
rs2455423	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs246251	0.94[ASN][1000 genomes]
rs2927647	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2927648	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2927654	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2937706	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2937708	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2937709	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs325195	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs325220	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs326480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs326481	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs326482	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs326493	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs327807	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs327811	0.87[CEU][hapmap];0.83[GIH][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs330419	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs331929	0.83[CEU][hapmap]
rs34489	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34490	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34491	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34497	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34498	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34499	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363929	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs366000	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs366353	1.00[CHB][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs370529	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs378089	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs380156	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs393697	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs395668	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs39660	0.96[ASN][1000 genomes]
rs398436	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs40075	0.93[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs407562	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs416750	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs422127	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs428836	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434039	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs443726	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs447044	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs449204	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs451141	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4565239	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4583911	1.00[CHB][hapmap]
rs45931	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs467728	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs469018	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703049	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4703052	0.82[EUR][1000 genomes]
rs4703340	0.82[EUR][1000 genomes]
rs539024	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs559574	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6878136	1.00[CHB][hapmap]
rs692832	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs709390	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7710032	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7711061	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7719562	1.00[CHB][hapmap]
rs819230	1.00[CHB][hapmap]
rs819232	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv537819	chr5:98253348-98299646	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98266200-98283600	Weak transcription	Colonic Mucosa	Colon
2	chr5:98266600-98291400	Weak transcription	Brain Germinal Matrix	brain
3	chr5:98274800-98297200	Weak transcription	Thymus	Thymus
4	chr5:98278600-98299400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:98279400-98298400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:98281400-98283400	Enhancers	Right Atrium	heart
7	chr5:98281600-98283600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:98282400-98283800	Enhancers	K562	blood
9	chr5:98282600-98290400	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:98282800-98283600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:98282800-98283600	Enhancers	NHEK	skin
12	chr5:98282800-98283800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr5:98283000-98283400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr5:98283000-98283400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr5:98283000-98283600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:98283000-98283600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:98283000-98283600	Enhancers	HMEC	breast
18	chr5:98283000-98283800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:98283000-98283800	Enhancers	Stomach Mucosa	stomach
20	chr5:98283200-98283400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr5:98283200-98283400	Enhancers	Left Ventricle	heart
22	chr5:98283200-98283600	Enhancers	Right Ventricle	heart
23	chr5:98283200-98283800	Enhancers	Duodenum Mucosa	Duodenum

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