Variant report

Variant	rs2464808
Chromosome Location	chr5:112092316-112092317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112018949..112022294-chr5:112089786..112092475,3	MCF-7	breast:
2	chr5:112079996..112082107-chr5:112090951..112092973,3	K562	blood:
3	chr5:112079996..112081734-chr5:112090951..112092973,2	K562	blood:
4	chr5:111881988..111883507-chr5:112090046..112093045,2	MCF-7	breast:
5	chr5:112026203..112028934-chr5:112090617..112094558,3	K562	blood:

Variant related genes	Relation type
ENSG00000251014	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11953943	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11960216	0.96[EUR][1000 genomes]
rs1644239	0.81[EUR][1000 genomes]
rs1644241	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1644242	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1661032	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1661034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1697914	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1697916	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17134960	0.83[EUR][1000 genomes]
rs1734244	0.93[EUR][1000 genomes]
rs1734245	0.81[EUR][1000 genomes]
rs1734246	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1734247	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2229994	1.00[YRI][hapmap]
rs2431505	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2431507	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2431508	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2431509	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2431511	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2439590	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2439592	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2439593	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2439594	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2455294	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2455296	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2464802	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2464810	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2909784	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2909961	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2909962	0.82[EUR][1000 genomes]
rs73220022	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112074000-112095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:112074200-112093200	Weak transcription	Aorta	Aorta
3	chr5:112074400-112093200	Weak transcription	Right Ventricle	heart
4	chr5:112074400-112094000	Weak transcription	Fetal Intestine Small	intestine
5	chr5:112074400-112095200	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:112074400-112095600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:112074400-112095600	Weak transcription	Fetal Thymus	thymus
8	chr5:112074400-112095800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:112074400-112102800	Weak transcription	Fetal Stomach	stomach
10	chr5:112074400-112103400	Weak transcription	Left Ventricle	heart
11	chr5:112074400-112119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:112074400-112125600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:112074400-112128600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:112074600-112103000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:112074800-112097600	Weak transcription	HMEC	breast
16	chr5:112075000-112093000	Weak transcription	Liver	Liver
17	chr5:112075000-112095200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:112075200-112092600	Weak transcription	HSMM	muscle
19	chr5:112075200-112094400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:112075200-112103000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:112075400-112097400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:112075400-112101600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:112075600-112095600	Weak transcription	Dnd41	blood
24	chr5:112075600-112095800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:112076000-112095400	Weak transcription	NH-A	brain
26	chr5:112076200-112097000	Weak transcription	NHLF	lung
27	chr5:112078000-112095800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:112078600-112093000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:112078600-112095800	Weak transcription	GM12878-XiMat	blood
30	chr5:112078800-112097200	Weak transcription	NHDF-Ad	bronchial
31	chr5:112079600-112128200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr5:112079800-112095600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr5:112079800-112128600	Weak transcription	Small Intestine	intestine
34	chr5:112080200-112095800	Weak transcription	K562	blood
35	chr5:112081200-112128600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:112084400-112103000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr5:112084600-112092800	Weak transcription	Colon Smooth Muscle	Colon
38	chr5:112084600-112095200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:112084600-112103200	Weak transcription	Psoas Muscle	Psoas
40	chr5:112084800-112101000	Weak transcription	Pancreas	Pancrea
41	chr5:112086200-112093200	Weak transcription	Brain Angular Gyrus	brain
42	chr5:112086600-112095600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:112087200-112098200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr5:112087600-112117600	Weak transcription	Gastric	stomach
45	chr5:112088200-112093200	Weak transcription	HUVEC	blood vessel
46	chr5:112088200-112095200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr5:112088200-112095400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:112088200-112095800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:112088600-112095600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr5:112088800-112092800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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