Variant report

Variant	rs7692518
Chromosome Location	chr4:175201477-175201478
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:175186610..175188170-chr4:175200585..175202935,2	K562	blood:
2	chr4:175201466..175204098-chr4:175240301..175242969,3	K562	blood:
3	chr4:175201466..175203946-chr4:175240301..175242969,2	K562	blood:
4	chr4:175182024..175184066-chr4:175201212..175203528,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11555602	1.00[ASW][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11929798	1.00[JPT][hapmap]
rs11933187	1.00[JPT][hapmap]
rs11942947	1.00[JPT][hapmap]
rs13101580	1.00[JPT][hapmap]
rs14278	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs17060409	0.82[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17060445	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332836	1.00[JPT][hapmap]
rs4695919	1.00[JPT][hapmap]
rs66565786	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67875138	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67936635	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67940320	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72702228	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72702234	1.00[ASN][1000 genomes]
rs72702236	1.00[ASN][1000 genomes]
rs72702242	1.00[ASN][1000 genomes]
rs72702244	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702246	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702249	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702250	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702258	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73009476	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656298	1.00[ASN][1000 genomes]
rs7664501	1.00[ASW][hapmap];0.82[CEU][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7681841	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7697587	0.82[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7692518	FBXO8	cis	cerebellum	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175154200-175204000	Weak transcription	Aorta	Aorta
2	chr4:175154200-175204200	Weak transcription	Esophagus	oesophagus
3	chr4:175154400-175202400	Weak transcription	Gastric	stomach
4	chr4:175158800-175202000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:175169800-175203600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:175174800-175203400	Weak transcription	Thymus	Thymus
7	chr4:175178000-175203600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:175179200-175204000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:175179400-175202400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:175181000-175201600	Weak transcription	Fetal Thymus	thymus
11	chr4:175181600-175203400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:175181600-175203600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:175182200-175202600	Weak transcription	Fetal Intestine Small	intestine
14	chr4:175184200-175202400	Weak transcription	Fetal Intestine Large	intestine
15	chr4:175184200-175203600	Weak transcription	HSMM	muscle
16	chr4:175184400-175202400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr4:175184400-175202600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:175184400-175204000	Weak transcription	Left Ventricle	heart
19	chr4:175184800-175202400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr4:175187800-175202200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:175188600-175201800	Weak transcription	Brain Angular Gyrus	brain
22	chr4:175188600-175202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:175188600-175203400	Weak transcription	Primary B cells from cord blood	blood
24	chr4:175188600-175204000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:175190000-175203400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:175190200-175204000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:175190800-175203600	Weak transcription	Fetal Stomach	stomach
28	chr4:175195400-175201800	Weak transcription	Right Ventricle	heart
29	chr4:175195400-175202600	Weak transcription	Pancreas	Pancrea
30	chr4:175195400-175203800	Weak transcription	Placenta	Placenta
31	chr4:175195600-175202400	Weak transcription	Colon Smooth Muscle	Colon
32	chr4:175196000-175202400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr4:175198800-175201800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:175198800-175201800	Weak transcription	Brain Germinal Matrix	brain
35	chr4:175198800-175203200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:175199200-175204000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr4:175199400-175203200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:175199600-175202600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:175199800-175201600	Weak transcription	Liver	Liver
40	chr4:175199800-175202600	Enhancers	Dnd41	blood
41	chr4:175200000-175202000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr4:175200200-175201800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:175200200-175202400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:175200200-175202600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:175200400-175201800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:175200400-175204000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr4:175200600-175202200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:175200800-175201800	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr4:175200800-175201800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr4:175200800-175202600	Weak transcription	Fetal Brain Male	brain

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