Variant report

Variant	rs13343761
Chromosome Location	chr19:42825078-42825079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42819448..42823717-chr19:42824551..42827641,3	MCF-7	breast:
2	chr19:42757670..42761057-chr19:42823055..42828263,5	K562	blood:
3	chr19:42820314..42825247-chr19:42826529..42830814,5	K562	blood:

Variant related genes	Relation type
ENSG00000268643	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000105429	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10401224	1.00[EUR][1000 genomes]
rs10402438	1.00[EUR][1000 genomes]
rs10403246	1.00[ASW][hapmap]
rs10404650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406800	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs10406972	1.00[EUR][1000 genomes]
rs10407085	1.00[EUR][1000 genomes]
rs10407155	1.00[EUR][1000 genomes]
rs10407842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10408258	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10409428	1.00[EUR][1000 genomes]
rs10409433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10409939	1.00[EUR][1000 genomes]
rs10410129	1.00[ASW][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10410174	1.00[AMR][1000 genomes]
rs10410653	1.00[ASW][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10411498	1.00[ASW][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10411908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10413484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414056	1.00[ASW][hapmap];0.81[AFR][1000 genomes]
rs10414695	1.00[AMR][1000 genomes]
rs10415759	1.00[AMR][1000 genomes]
rs10415999	1.00[EUR][1000 genomes]
rs10416241	1.00[ASW][hapmap]
rs10416535	1.00[ASW][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418102	1.00[AMR][1000 genomes]
rs10418312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10420327	1.00[AMR][1000 genomes]
rs10421026	0.84[AFR][1000 genomes]
rs10421331	1.00[AMR][1000 genomes]
rs10421409	1.00[ASW][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421510	1.00[EUR][1000 genomes]
rs10421857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421902	1.00[AMR][1000 genomes]
rs10422301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422867	1.00[EUR][1000 genomes]
rs10423812	1.00[EUR][1000 genomes]
rs10423959	1.00[EUR][1000 genomes]
rs10423978	1.00[EUR][1000 genomes]
rs10424402	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10425003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425320	1.00[EUR][1000 genomes]
rs10425783	1.00[EUR][1000 genomes]
rs10425883	1.00[ASW][hapmap]
rs10426267	1.00[EUR][1000 genomes]
rs10426284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878207	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878297	1.00[EUR][1000 genomes]
rs11879073	1.00[EUR][1000 genomes]
rs11879538	1.00[EUR][1000 genomes]
rs11880214	1.00[EUR][1000 genomes]
rs11880356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882107	1.00[EUR][1000 genomes]
rs11882801	1.00[EUR][1000 genomes]
rs12165130	1.00[EUR][1000 genomes]
rs13343322	1.00[ASW][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13345986	0.81[AFR][1000 genomes]
rs13346831	1.00[AMR][1000 genomes]
rs13346837	1.00[EUR][1000 genomes]
rs13346879	1.00[AMR][1000 genomes]
rs2229614	1.00[ASW][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28402882	1.00[AMR][1000 genomes]
rs28463673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28469564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28474957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28483598	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28496975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28532592	0.81[AFR][1000 genomes]
rs28572784	1.00[ASW][hapmap]
rs28657829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28663042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28675019	1.00[EUR][1000 genomes]
rs28675764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28686771	1.00[AMR][1000 genomes]
rs28699037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28711448	1.00[EUR][1000 genomes]
rs28715574	1.00[EUR][1000 genomes]
rs33919763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35707383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36089262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41407146	1.00[AMR][1000 genomes]
rs59870753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60950516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6509012	0.81[AFR][1000 genomes]
rs7246232	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248473	1.00[ASW][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7255343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73552879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73554520	1.00[EUR][1000 genomes]
rs73554531	1.00[EUR][1000 genomes]
rs73558432	1.00[AMR][1000 genomes]
rs73560411	1.00[AMR][1000 genomes]
rs8099885	1.00[ASW][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109258	1.00[ASW][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9304602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
7	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42818000-42828600	Weak transcription	Right Atrium	heart
2	chr19:42818200-42828600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr19:42818200-42828800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:42818200-42829200	Weak transcription	Gastric	stomach
5	chr19:42818400-42828800	Weak transcription	Brain Angular Gyrus	brain
6	chr19:42818800-42828800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:42819000-42827400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:42819000-42828400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr19:42821600-42829200	Weak transcription	K562	blood
10	chr19:42821800-42826200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:42822000-42826200	Weak transcription	Fetal Brain Female	brain

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