Variant report

Variant	rs6721057
Chromosome Location	chr2:188131849-188131850
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10174402	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10174460	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10174876	0.93[YRI][hapmap]
rs10203685	1.00[AMR][1000 genomes]
rs10208253	0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10221846	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10931287	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13388347	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs13391909	0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392210	0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs13396246	1.00[YRI][hapmap]
rs13399503	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401664	1.00[AMR][1000 genomes]
rs13401762	1.00[AMR][1000 genomes]
rs13405653	0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs13409677	0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13414158	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13427655	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13430432	1.00[ASW][hapmap];0.94[LWK][hapmap];0.97[MKK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs13432027	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13432953	0.87[LWK][hapmap]
rs28363963	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28458997	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28585422	1.00[AMR][1000 genomes]
rs6434212	1.00[AMR][1000 genomes]
rs6715996	0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs6747392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6753145	0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs7578599	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7583999	1.00[AMR][1000 genomes]
rs7592458	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs7599181	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875555	chr2:188023107-188143677	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2751839	chr2:188035947-188141690	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2763652	chr2:188042583-188153257	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1004711	chr2:188044247-188142073	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv997699	chr2:188052351-188142073	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv584032	chr2:188083217-188150228	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv875556	chr2:188083300-188135654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv533935	chr2:188089148-188284766	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv584033	chr2:188103476-188135654	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv584034	chr2:188103476-188143677	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv584035	chr2:188105078-188153421	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1002116	chr2:188119621-188142073	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv431868	chr2:188119621-188159750	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6721057	MXRA7	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188130800-188133000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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