Variant report

Variant	rs2431509
Chromosome Location	chr5:112075485-112075486
allele	C/T
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	chr5:112041486..112046402-chr5:112068342..112076365,12	K562	blood:
3	chr5:112070264..112074990-chr5:112075213..112080518,8	K562	blood:

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11953943	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11960216	0.97[EUR][1000 genomes]
rs1644239	0.82[EUR][1000 genomes]
rs1644241	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1644242	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1661032	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1661034	0.90[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1697914	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1697916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134960	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs1734244	0.95[EUR][1000 genomes]
rs1734245	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs1734246	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1734247	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1882619	0.82[AMR][1000 genomes]
rs2431505	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2431507	0.90[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2431508	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2431511	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2439590	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2439592	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2439593	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2439594	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2455294	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2455296	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2464802	0.86[EUR][1000 genomes]
rs2464808	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2464810	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2909784	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2909961	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2909962	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs73220022	0.84[EUR][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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112072800-112076400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:112073000-112075600	Active TSS	Brain Hippocampus Middle	brain
3	chr5:112073000-112075800	Active TSS	Brain Substantia Nigra	brain
4	chr5:112073000-112076200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr5:112073000-112076200	Active TSS	NHLF	lung
6	chr5:112073200-112076600	Active TSS	Brain Cingulate Gyrus	brain
7	chr5:112073800-112086800	Weak transcription	Gastric	stomach
8	chr5:112074000-112075600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:112074000-112095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:112074200-112076000	Active TSS	K562	blood
11	chr5:112074200-112077600	Weak transcription	Primary T cells from cord blood	blood
12	chr5:112074200-112078800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:112074200-112079600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:112074200-112081400	Weak transcription	Esophagus	oesophagus
15	chr5:112074200-112083800	Weak transcription	Ovary	ovary
16	chr5:112074200-112084400	Weak transcription	Pancreas	Pancrea
17	chr5:112074200-112093200	Weak transcription	Aorta	Aorta
18	chr5:112074400-112076000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:112074400-112076000	Active TSS	Brain Angular Gyrus	brain
20	chr5:112074400-112076600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:112074400-112077000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:112074400-112077800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:112074400-112078200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:112074400-112078400	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:112074400-112079000	Weak transcription	Small Intestine	intestine
26	chr5:112074400-112079600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:112074400-112079600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr5:112074400-112079600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr5:112074400-112081400	Weak transcription	Right Atrium	heart
30	chr5:112074400-112083800	Weak transcription	Psoas Muscle	Psoas
31	chr5:112074400-112083800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:112074400-112090400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr5:112074400-112090400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr5:112074400-112091000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:112074400-112093200	Weak transcription	Right Ventricle	heart
36	chr5:112074400-112094000	Weak transcription	Fetal Intestine Small	intestine
37	chr5:112074400-112095200	Weak transcription	Fetal Muscle Leg	muscle
38	chr5:112074400-112095600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:112074400-112095600	Weak transcription	Fetal Thymus	thymus
40	chr5:112074400-112095800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr5:112074400-112102800	Weak transcription	Fetal Stomach	stomach
42	chr5:112074400-112103400	Weak transcription	Left Ventricle	heart
43	chr5:112074400-112119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:112074400-112125600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:112074400-112128600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:112074600-112075600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr5:112074600-112075600	Enhancers	Dnd41	blood
48	chr5:112074600-112090400	Weak transcription	Primary B cells from cord blood	blood
49	chr5:112074600-112103000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:112074800-112075600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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