Variant report

Variant	rs2595152
Chromosome Location	chr2:114553284-114553285
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	chr2:114512090..114514433-chr2:114551367..114553729,2	K562	blood:

Variant related genes	Relation type
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10167730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.94[TSI][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10172842	0.94[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs10177576	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10179657	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10209330	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10496453	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123207	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11686297	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11694130	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12613159	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12711788	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17040397	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122097	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2290108	0.94[CEU][hapmap]
rs2305255	0.89[CEU][hapmap]
rs2442136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2595140	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2687623	0.84[ASN][1000 genomes]
rs2687624	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2687626	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2687627	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2687628	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2687630	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28451366	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2900744	0.94[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs34332133	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35734534	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3816384	0.94[CEU][hapmap]
rs3890789	0.94[CEU][hapmap]
rs4848343	0.89[CEU][hapmap];0.87[GIH][hapmap];0.83[MEX][hapmap]
rs4848349	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4848350	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849270	0.94[CEU][hapmap];0.87[GIH][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs4849275	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4849277	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4849278	0.86[ASN][1000 genomes]
rs4849279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6711542	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7600228	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][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	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2595152	RPL23AP7	cis	Muscle Skeletal	GTEx
rs2595152	RPL23AP7	cis	Artery Tibial	GTEx
rs2595152	SLC35F5	Cis_1M	lymphoblastoid	RTeQTL
rs2595152	RPL23AP7	cis	lung	GTEx
rs2595152	RPL23AP7	cis	Artery Aorta	GTEx
rs2595152	RPL23AP7	cis	Whole Blood	GTEx
rs2595152	DDX11L2	cis	Whole Blood	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114550000-114557000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:114550200-114555800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:114550200-114563800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:114552400-114553400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:114552400-114553400	Enhancers	A549	lung
6	chr2:114552400-114553400	Enhancers	HepG2	liver
7	chr2:114552400-114553600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:114552400-114553600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:114552600-114553400	Enhancers	Fetal Kidney	kidney
10	chr2:114552600-114553400	Enhancers	NHDF-Ad	bronchial
11	chr2:114552600-114553600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:114552600-114553600	Enhancers	NHLF	lung
13	chr2:114552600-114553800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:114552600-114554400	Enhancers	Fetal Intestine Small	intestine
15	chr2:114552800-114553400	Enhancers	Ovary	ovary
16	chr2:114552800-114553600	Enhancers	Right Ventricle	heart
17	chr2:114552800-114553600	Enhancers	HSMM	muscle
18	chr2:114552800-114553800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:114552800-114553800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:114552800-114553800	Enhancers	Colonic Mucosa	Colon
21	chr2:114552800-114553800	Enhancers	Left Ventricle	heart
22	chr2:114552800-114555000	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:114553000-114553400	Enhancers	Placenta	Placenta
24	chr2:114553000-114553600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:114553000-114553600	Enhancers	Fetal Stomach	stomach
26	chr2:114553000-114553600	Enhancers	HSMMtube	muscle
27	chr2:114553200-114553400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:114553200-114553400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
29	chr2:114553200-114553400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr2:114553200-114554600	Weak transcription	Fetal Intestine Large	intestine
31	chr2:114553200-114557200	Weak transcription	Osteobl	bone

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