Variant report

Variant	rs11810089
Chromosome Location	chr1:224379041-224379042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224376961..224379372-chr1:224517838..224520632,2	K562	blood:

Variant related genes	Relation type
ENSG00000143748	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10916470	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2139155	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2176600	0.90[ASN][1000 genomes]
rs2405304	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36086207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653996	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61826414	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6666295	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669401	0.90[ASN][1000 genomes]
rs6678942	0.90[ASN][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	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv8857	chr1:224359943-224383023	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11810089	RP11-365O16.3	cis	Skin Sun Exposed Lower leg	GTEx
rs11810089	FBXO28	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224372400-224379600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:224372400-224380200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:224372400-224381000	Weak transcription	HSMMtube	muscle
4	chr1:224372400-224389200	Weak transcription	Fetal Kidney	kidney
5	chr1:224372600-224379600	Weak transcription	HMEC	breast
6	chr1:224372600-224380000	Weak transcription	Thymus	Thymus
7	chr1:224372600-224391000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:224372600-224392400	Weak transcription	Ovary	ovary
9	chr1:224372600-224392600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:224372800-224380000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:224372800-224380000	Weak transcription	HSMM	muscle
12	chr1:224372800-224381000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:224372800-224392000	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:224373000-224383600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:224373200-224380200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:224373200-224380200	Weak transcription	HUVEC	blood vessel
17	chr1:224373200-224380400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:224373200-224382000	Weak transcription	Brain Substantia Nigra	brain
19	chr1:224373200-224392400	Weak transcription	Colonic Mucosa	Colon
20	chr1:224373400-224379600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:224373400-224379600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:224373400-224381200	Weak transcription	Aorta	Aorta
23	chr1:224373400-224383600	Weak transcription	Small Intestine	intestine
24	chr1:224373400-224384400	Weak transcription	Brain Germinal Matrix	brain
25	chr1:224373400-224392400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:224373400-224392400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:224373400-224392600	Weak transcription	Psoas Muscle	Psoas
28	chr1:224373600-224379200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:224373600-224380000	Weak transcription	Brain Anterior Caudate	brain
30	chr1:224373600-224380000	Weak transcription	NHLF	lung
31	chr1:224373600-224381000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:224373600-224381000	Weak transcription	NHDF-Ad	bronchial
33	chr1:224373600-224392400	Weak transcription	Brain Angular Gyrus	brain
34	chr1:224373800-224380000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:224373800-224380000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:224373800-224381000	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:224373800-224384200	Weak transcription	Fetal Brain Male	brain
38	chr1:224373800-224392400	Weak transcription	Esophagus	oesophagus
39	chr1:224373800-224392400	Weak transcription	Fetal Heart	heart
40	chr1:224373800-224392400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:224374000-224380000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:224374000-224380600	Weak transcription	Lung	lung
43	chr1:224374000-224384800	Weak transcription	Stomach Mucosa	stomach
44	chr1:224374000-224391000	Weak transcription	Spleen	Spleen
45	chr1:224374000-224392400	Weak transcription	Pancreas	Pancrea
46	chr1:224374200-224379800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:224374200-224380000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:224374200-224380000	Weak transcription	Fetal Lung	lung
49	chr1:224374200-224380200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:224374200-224382000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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