Variant report

Variant	rs6547191
Chromosome Location	chr2:78430754-78430755
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs13339854	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347725	0.92[AMR][1000 genomes]
rs1370636	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1526382	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17015011	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1946803	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1946805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033752	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5012194	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56928061	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60824620	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60912555	0.92[AMR][1000 genomes]
rs61154520	1.00[ASN][1000 genomes]
rs61486413	1.00[ASN][1000 genomes]
rs6706359	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6730662	1.00[ASN][1000 genomes]
rs6752391	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921789	1.00[ASN][1000 genomes]
rs72923635	1.00[ASN][1000 genomes]
rs72923636	1.00[ASN][1000 genomes]
rs72925690	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72927614	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72927621	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73942249	0.86[EUR][1000 genomes]
rs73944141	1.00[ASN][1000 genomes]
rs7568442	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581193	0.86[EUR][1000 genomes]
rs7593029	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7596267	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608794	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917204	chr2:78047538-78602013	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1001461	chr2:78091352-78673948	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2757811	chr2:78126389-78711032	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759068	chr2:78126389-78711032	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1000527	chr2:78176225-78468796	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2756933	chr2:78199735-78640246	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv524102	chr2:78221253-78562013	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2762686	chr2:78224683-78564328	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv34750	chr2:78251145-78434845	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv34528	chr2:78256829-78615143	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv818057	chr2:78263883-78633880	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1005115	chr2:78307330-78673948	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1002464	chr2:78308336-78658280	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv535787	chr2:78308336-78658280	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv874355	chr2:78341245-78434830	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv582269	chr2:78359187-78489746	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
17	nsv874356	chr2:78367077-78511542	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
18	nsv582270	chr2:78367077-78592167	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	nsv1011578	chr2:78368127-78590333	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	nsv874357	chr2:78395467-78546919	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
21	nsv1010116	chr2:78399683-78660165	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv979361	chr2:78404281-78482977	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
23	nsv998161	chr2:78404349-78660165	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv582271	chr2:78410008-78457741	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
25	nsv458385	chr2:78410008-78482324	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
26	nsv470475	chr2:78410008-78482324	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
27	nsv582272	chr2:78410008-78482324	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
28	nsv1000078	chr2:78410008-78660165	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
29	nsv1014232	chr2:78413760-79034119	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
30	nsv535788	chr2:78413760-79034119	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
31	nsv916498	chr2:78429997-79340383	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78419000-78432400	Weak transcription	HepG2	liver
2	chr2:78428000-78431200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:78430200-78430800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:78430400-78430800	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:78430400-78430800	Enhancers	Brain Hippocampus Middle	brain
6	chr2:78430600-78430800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr2:78430600-78431200	Enhancers	Brain Substantia Nigra	brain

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