Variant report

Variant	rs13184352
Chromosome Location	chr5:42497622-42497623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:42497451..42499890-chr5:42506080..42508067,2	K562	blood:
2	chr5:42493810..42496602-chr5:42496863..42498426,2	K562	blood:
3	chr5:42493526..42495310-chr5:42496926..42499745,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10440649	1.00[CHB][hapmap]
rs10941578	0.87[CEU][hapmap]
rs11739444	0.84[CEU][hapmap]
rs11740415	0.84[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.83[TSI][hapmap]
rs11744988	1.00[CHD][hapmap]
rs11949751	0.84[CEU][hapmap]
rs11955075	0.84[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap]
rs11957404	1.00[CHB][hapmap]
rs12521020	0.84[CEU][hapmap]
rs13154521	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13156541	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs13160458	0.88[CEU][hapmap]
rs13168764	1.00[ASN][1000 genomes]
rs13171720	1.00[CHB][hapmap]
rs13182117	1.00[CHB][hapmap]
rs13188386	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13354167	1.00[CHB][hapmap]
rs17574527	1.00[CHB][hapmap]
rs17574616	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs17575164	1.00[CHB][hapmap]
rs17636762	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs28943880	1.00[ASN][1000 genomes]
rs28943882	1.00[CHB][hapmap]
rs33939197	1.00[ASN][1000 genomes]
rs34975809	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35003055	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35185573	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35418208	0.87[EUR][1000 genomes]
rs35500216	0.99[EUR][1000 genomes]
rs35525634	1.00[ASN][1000 genomes]
rs35920615	1.00[ASN][1000 genomes]
rs4129472	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4129645	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4292454	1.00[CHB][hapmap]
rs4365846	0.88[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs4368736	0.80[EUR][1000 genomes]
rs4395642	0.88[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs4493680	0.90[CEU][hapmap]
rs4496716	0.86[CEU][hapmap]
rs56144821	1.00[ASN][1000 genomes]
rs56781446	0.87[EUR][1000 genomes]
rs61043035	0.87[EUR][1000 genomes]
rs6414898	1.00[CHB][hapmap]
rs6451634	1.00[CHB][hapmap]
rs67005744	1.00[ASN][1000 genomes]
rs67277863	1.00[ASN][1000 genomes]
rs67812331	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6859653	0.83[CEU][hapmap]
rs6863381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881929	0.84[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap]
rs6896667	0.84[CEU][hapmap]
rs7702524	1.00[CHB][hapmap]
rs7703669	1.00[CHB][hapmap]
rs7703713	0.88[CEU][hapmap]
rs7707913	0.83[CEU][hapmap]
rs7709790	1.00[CHB][hapmap]
rs7718962	1.00[CHB][hapmap]
rs7735889	0.84[CEU][hapmap]
rs7736209	0.84[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.83[TSI][hapmap]
rs9292854	1.00[CHB][hapmap]
rs9763260	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42490600-42499200	Weak transcription	Pancreas	Pancrea
2	chr5:42490800-42499200	Weak transcription	Left Ventricle	heart
3	chr5:42492000-42499200	Weak transcription	Right Atrium	heart
4	chr5:42492200-42499200	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:42492200-42499200	Weak transcription	Ovary	ovary
6	chr5:42493200-42499800	Weak transcription	Fetal Lung	lung
7	chr5:42494000-42498400	Enhancers	Fetal Heart	heart
8	chr5:42494600-42499000	Weak transcription	Adipose Nuclei	Adipose
9	chr5:42495200-42500000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:42495800-42499200	Weak transcription	Right Ventricle	heart
11	chr5:42496000-42498400	Enhancers	Psoas Muscle	Psoas
12	chr5:42496000-42501200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr5:42496200-42498600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:42496200-42499000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:42496400-42499800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:42496400-42500200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:42496600-42498000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:42496600-42498200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr5:42496600-42498400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:42496600-42499400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr5:42496600-42500000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:42496600-42502200	Enhancers	Liver	Liver
23	chr5:42496800-42498200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr5:42496800-42498400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:42496800-42498800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:42496800-42499800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:42496800-42500000	Weak transcription	NHEK	skin
28	chr5:42496800-42503200	Weak transcription	HMEC	breast
29	chr5:42497000-42498400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:42497200-42498200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:42497200-42499200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:42497200-42499200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:42497200-42499400	Weak transcription	Colon Smooth Muscle	Colon
34	chr5:42497600-42498000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr5:42497600-42498600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:42497600-42499400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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