Variant report

Variant	rs13257990
Chromosome Location	chr8:61840558-61840559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10808715	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926586	0.80[ASW][hapmap];0.81[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs34434045	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4644237	1.00[CEU][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs56764036	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58023506	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525903	0.92[ASN][1000 genomes]
rs62525904	0.90[ASN][1000 genomes]
rs62525905	0.94[ASN][1000 genomes]
rs62525907	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525909	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7821046	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7827015	0.91[ASN][1000 genomes]
rs7838737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839575	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61835400-61842600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:61835400-61843000	Enhancers	Primary hematopoietic stem cells	blood
3	chr8:61835800-61840800	Enhancers	Brain Hippocampus Middle	brain
4	chr8:61836800-61841800	Weak transcription	Spleen	Spleen
5	chr8:61837000-61840600	Enhancers	Fetal Muscle Leg	muscle
6	chr8:61837000-61842000	Weak transcription	Colonic Mucosa	Colon
7	chr8:61837000-61842200	Weak transcription	Gastric	stomach
8	chr8:61837600-61840600	Enhancers	Brain Substantia Nigra	brain
9	chr8:61838000-61842400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:61838400-61840800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:61838400-61841000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:61838600-61840600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr8:61838600-61840600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr8:61838600-61840800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr8:61838600-61840800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr8:61838600-61840800	Flanking Active TSS	GM12878-XiMat	blood
17	chr8:61838600-61842600	Enhancers	Dnd41	blood
18	chr8:61838800-61840800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:61838800-61840800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr8:61838800-61840800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr8:61839000-61840600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr8:61839000-61840600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:61839200-61840600	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr8:61839400-61840600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr8:61839400-61840600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr8:61839400-61840600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:61839400-61840600	Flanking Active TSS	Fetal Thymus	thymus
28	chr8:61839400-61840800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr8:61839600-61841600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:61839800-61840600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr8:61839800-61840800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:61839800-61840800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:61840000-61840600	Enhancers	Duodenum Mucosa	Duodenum
34	chr8:61840000-61840600	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr8:61840000-61840800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr8:61840000-61840800	Enhancers	Stomach Mucosa	stomach
37	chr8:61840000-61840800	Enhancers	HSMM	muscle
38	chr8:61840000-61841600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:61840000-61843000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:61840200-61840600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr8:61840200-61840600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr8:61840200-61840800	Enhancers	Fetal Lung	lung
43	chr8:61840200-61841000	Enhancers	Thymus	Thymus
44	chr8:61840200-61841600	Enhancers	Primary T cells fromperipheralblood	blood
45	chr8:61840200-61843200	Enhancers	Primary B cells from peripheral blood	blood
46	chr8:61840400-61840800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:61840400-61840800	Enhancers	Brain Angular Gyrus	brain
48	chr8:61840400-61842600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr8:61840400-61845000	Weak transcription	Brain Anterior Caudate	brain
50	chr8:61840400-61845000	Weak transcription	Brain Cingulate Gyrus	brain

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