Variant report

Variant	rs7600802
Chromosome Location	chr2:38866880-38866881
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38866346..38869051-chr2:38869593..38871787,4	K562	blood:
2	chr2:38826787..38828390-chr2:38864612..38866971,2	K562	blood:
3	chr2:38830024..38832660-chr2:38864551..38867364,2	K562	blood:
4	chr2:38829011..38830871-chr2:38864426..38867339,2	MCF-7	breast:
5	chr2:38861742..38863266-chr2:38865469..38867826,2	K562	blood:
6	chr2:38865694..38869051-chr2:38869356..38872589,6	K562	blood:
7	chr2:38826787..38832652-chr2:38859055..38867252,11	K562	blood:
8	chr2:38861742..38863889-chr2:38865469..38867826,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143889	Chromatin interaction
ENSG00000235586	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10204680	0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12992482	0.87[EUR][1000 genomes]
rs13010091	0.87[EUR][1000 genomes]
rs13011896	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13015860	0.87[EUR][1000 genomes]
rs13016108	0.87[EUR][1000 genomes]
rs13016885	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13025153	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13032371	0.88[EUR][1000 genomes]
rs13415823	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13432435	0.81[EUR][1000 genomes]
rs17022983	0.87[EUR][1000 genomes]
rs17493692	0.90[EUR][1000 genomes]
rs2003209	0.81[EUR][1000 genomes]
rs2099261	0.83[EUR][1000 genomes]
rs2116383	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2116385	0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2163551	0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2217537	0.83[EUR][1000 genomes]
rs2373420	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2373422	0.87[EUR][1000 genomes]
rs34145681	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34450185	0.81[EUR][1000 genomes]
rs35273515	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35613649	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35861429	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67326552	0.90[EUR][1000 genomes]
rs6742843	0.86[CHB][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6745646	0.83[EUR][1000 genomes]
rs72909831	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7561778	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583318	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv581484	chr2:38799820-38874177	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv581485	chr2:38839323-38893660	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv873882	chr2:38858669-38921498	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv2762495	chr2:38861095-38886391	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv961400	chr2:38866254-38867269	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38862800-38870000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:38862800-38870200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:38863600-38869800	Weak transcription	K562	blood
4	chr2:38865200-38870200	Weak transcription	Spleen	Spleen
5	chr2:38865800-38867000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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