Variant report

Variant	rs464338
Chromosome Location	chr5:112064826-112064827
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112064316..112067247-chr5:112074858..112077502,2	K562	blood:
2	chr5:112063462..112066944-chr5:112067899..112070429,3	K562	blood:
3	chr5:112058449..112061248-chr5:112063741..112066202,3	K562	blood:
4	chr5:112042859..112045192-chr5:112064227..112066122,2	K562	blood:

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11241181	1.00[AMR][1000 genomes]
rs11750684	1.00[AMR][1000 genomes]
rs13361581	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13436450	1.00[AMR][1000 genomes]
rs1441368	1.00[AMR][1000 genomes]
rs1441369	1.00[AMR][1000 genomes]
rs2464806	1.00[AMR][1000 genomes]
rs2464812	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs369952	1.00[AMR][1000 genomes]
rs380589	1.00[AMR][1000 genomes]
rs392179	1.00[AMR][1000 genomes]
rs415045	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs468293	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs469336	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4705617	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs4705753	1.00[AMR][1000 genomes]
rs7718899	1.00[AMR][1000 genomes]
rs9326864	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9986303	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462387	chr5:112053911-112124369	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv599393	chr5:112053911-112124369	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112046000-112069200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:112047000-112066000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:112047400-112072400	Weak transcription	Thymus	Thymus
4	chr5:112052000-112072600	Weak transcription	Primary B cells from cord blood	blood
5	chr5:112052600-112072600	Weak transcription	Primary T cells from cord blood	blood
6	chr5:112054400-112073200	Weak transcription	Pancreas	Pancrea
7	chr5:112056600-112066200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:112056600-112067400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr5:112058600-112072800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:112059200-112067000	Weak transcription	Brain Anterior Caudate	brain
11	chr5:112059200-112067600	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:112059200-112073200	Weak transcription	Left Ventricle	heart
13	chr5:112060000-112072800	Weak transcription	Fetal Heart	heart
14	chr5:112060600-112070000	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:112060800-112069200	Weak transcription	Brain Substantia Nigra	brain
16	chr5:112061000-112072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:112061000-112072800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:112061000-112073000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:112061800-112073000	Weak transcription	Fetal Stomach	stomach
20	chr5:112062200-112067000	Weak transcription	Psoas Muscle	Psoas
21	chr5:112062200-112073000	Weak transcription	Brain Germinal Matrix	brain
22	chr5:112062400-112065000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:112062400-112072800	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:112062400-112073000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:112062400-112073000	Weak transcription	Fetal Intestine Small	intestine
26	chr5:112062800-112065000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:112063400-112066200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:112064400-112066000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:112064800-112065000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr5:112064800-112066400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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