Variant report

Variant	rs4871138
Chromosome Location	chr8:121875575-121875576
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10109303	0.81[EUR][1000 genomes]
rs10113493	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10955991	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955992	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12547186	0.88[EUR][1000 genomes]
rs13248499	0.90[EUR][1000 genomes]
rs2891944	0.84[CEU][hapmap]
rs4501619	0.81[EUR][1000 genomes]
rs4871137	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6990876	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6990903	0.81[EUR][1000 genomes]
rs6996149	0.81[EUR][1000 genomes]
rs7000987	0.81[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	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891423	chr8:121847643-121994660	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv437632	chr8:121861465-121877076	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv891425	chr8:121875083-122025559	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121868800-121877200	Enhancers	HepG2	liver
2	chr8:121874200-121881000	Weak transcription	Psoas Muscle	Psoas
3	chr8:121874400-121877600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:121874400-121880000	Weak transcription	Liver	Liver
5	chr8:121874600-121880400	Weak transcription	Osteobl	bone
6	chr8:121874600-121880600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:121874800-121876000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:121874800-121880600	Weak transcription	Primary T cells from cord blood	blood
9	chr8:121874800-121881000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:121875000-121879800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:121875000-121880000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:121875000-121880400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:121875200-121880600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:121875200-121880800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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