Variant report

Variant	rs11165002
Chromosome Location	chr1:92048966-92048967
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92046311..92049077-chr1:92051859..92054355,2	K562	blood:
2	chr1:92047577..92050180-chr1:92051854..92054355,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10458506	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10493854	0.96[ASN][1000 genomes]
rs10874794	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10874796	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164971	0.89[ASN][1000 genomes]
rs11164978	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11165008	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165013	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12048543	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12059556	0.96[ASN][1000 genomes]
rs12117800	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17503335	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs1848435	0.89[ASN][1000 genomes]
rs4658235	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4658236	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6604044	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6604045	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677520	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6681573	0.96[ASN][1000 genomes]
rs6681883	0.96[ASN][1000 genomes]
rs6686665	0.96[ASN][1000 genomes]
rs6688706	0.96[ASN][1000 genomes]
rs6691704	0.96[ASN][1000 genomes]
rs906633	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11165002	RPAP2	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92036400-92051000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:92038200-92049000	Weak transcription	Right Atrium	heart
3	chr1:92041800-92051200	Weak transcription	Fetal Brain Male	brain
4	chr1:92043000-92049000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:92044600-92050000	Weak transcription	Lung	lung
6	chr1:92045000-92049000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:92045400-92051400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:92046000-92055000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:92046200-92049000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:92047000-92050000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:92047200-92049800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:92047200-92052000	Enhancers	Fetal Stomach	stomach
13	chr1:92047400-92050600	Enhancers	NHDF-Ad	bronchial
14	chr1:92047400-92050800	Enhancers	NHLF	lung
15	chr1:92047600-92050800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:92047600-92051000	Enhancers	Ovary	ovary
17	chr1:92047800-92049000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:92047800-92049200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:92047800-92049200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:92047800-92049200	Enhancers	HSMM	muscle
21	chr1:92047800-92049400	Enhancers	Rectal Smooth Muscle	rectum
22	chr1:92047800-92049400	Enhancers	Osteobl	bone
23	chr1:92047800-92049600	Enhancers	Dnd41	blood
24	chr1:92047800-92049800	Enhancers	NH-A	brain
25	chr1:92048000-92049200	Enhancers	Fetal Lung	lung
26	chr1:92048000-92049400	Enhancers	Fetal Heart	heart
27	chr1:92048000-92049400	Enhancers	Fetal Muscle Leg	muscle
28	chr1:92048000-92049600	Enhancers	NHEK	skin
29	chr1:92048000-92049800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:92048000-92051800	Enhancers	Colon Smooth Muscle	Colon
31	chr1:92048000-92052200	Enhancers	Stomach Smooth Muscle	stomach
32	chr1:92048200-92049000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:92048200-92049000	Enhancers	Fetal Kidney	kidney
34	chr1:92048200-92049000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:92048200-92049200	Weak transcription	Left Ventricle	heart
36	chr1:92048200-92051000	Weak transcription	Aorta	Aorta
37	chr1:92048400-92050800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:92048400-92054200	Weak transcription	K562	blood
39	chr1:92048600-92049000	Enhancers	Liver	Liver
40	chr1:92048600-92049200	Enhancers	Duodenum Mucosa	Duodenum
41	chr1:92048600-92049200	Weak transcription	Placenta	Placenta
42	chr1:92048600-92049400	Enhancers	Adipose Nuclei	Adipose
43	chr1:92048600-92050400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:92048800-92049000	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr1:92048800-92049600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:92048800-92050200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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