Variant report

Variant	rs7143223
Chromosome Location	chr14:68197350-68197351
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68189527..68192099-chr14:68196390..68198301,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10130204	0.98[AFR][1000 genomes]
rs10131022	1.00[EUR][1000 genomes]
rs10133699	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10134763	1.00[EUR][1000 genomes]
rs10135963	1.00[EUR][1000 genomes]
rs10136738	1.00[EUR][1000 genomes]
rs10139064	1.00[EUR][1000 genomes]
rs10139482	1.00[EUR][1000 genomes]
rs10142186	1.00[EUR][1000 genomes]
rs10145923	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10145933	1.00[EUR][1000 genomes]
rs10146242	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10147052	1.00[EUR][1000 genomes]
rs10147145	1.00[EUR][1000 genomes]
rs10150532	1.00[EUR][1000 genomes]
rs11849600	1.00[MEX][hapmap]
rs17104527	1.00[EUR][1000 genomes]
rs17104547	1.00[EUR][1000 genomes]
rs17104587	1.00[EUR][1000 genomes]
rs17104591	1.00[EUR][1000 genomes]
rs17104697	1.00[EUR][1000 genomes]
rs2234512	1.00[EUR][1000 genomes]
rs2295109	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2295110	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28451245	1.00[EUR][1000 genomes]
rs28556682	1.00[EUR][1000 genomes]
rs28780734	1.00[EUR][1000 genomes]
rs28784083	1.00[EUR][1000 genomes]
rs28817410	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28844401	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34057001	1.00[EUR][1000 genomes]
rs35010674	1.00[EUR][1000 genomes]
rs4272963	1.00[EUR][1000 genomes]
rs4899218	1.00[EUR][1000 genomes]
rs4902492	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4902510	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4902516	0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4902522	1.00[EUR][1000 genomes]
rs57023353	1.00[EUR][1000 genomes]
rs57348219	1.00[EUR][1000 genomes]
rs58112975	1.00[EUR][1000 genomes]
rs58952057	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59945885	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7143483	1.00[EUR][1000 genomes]
rs7144698	1.00[EUR][1000 genomes]
rs7145385	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7149669	1.00[EUR][1000 genomes]
rs7156195	0.82[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7157699	1.00[EUR][1000 genomes]
rs7160492	1.00[MEX][hapmap]
rs7359109	1.00[EUR][1000 genomes]
rs7765	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8007916	1.00[EUR][1000 genomes]
rs8009762	1.00[EUR][1000 genomes]
rs8010136	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8015427	1.00[TSI][hapmap]
rs8015609	1.00[EUR][1000 genomes]
rs8018161	1.00[EUR][1000 genomes]
rs8018528	1.00[EUR][1000 genomes]
rs8023116	1.00[EUR][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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats 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	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68189000-68218800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:68189400-68200800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:68189800-68213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:68193800-68199000	Weak transcription	Aorta	Aorta
5	chr14:68194000-68202200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr14:68196200-68200600	Weak transcription	Brain Substantia Nigra	brain
7	chr14:68196200-68200600	Weak transcription	Lung	lung
8	chr14:68196200-68200600	Weak transcription	Pancreas	Pancrea
9	chr14:68196200-68219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:68196400-68198800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:68196800-68201400	Weak transcription	K562	blood
12	chr14:68196800-68214600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:68197200-68200400	Weak transcription	HepG2	liver
14	chr14:68197200-68201000	Weak transcription	Liver	Liver
15	chr14:68197200-68202000	Weak transcription	Stomach Mucosa	stomach
16	chr14:68197200-68214800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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