Variant report

Variant	rs2648437
Chromosome Location	chr15:76232982-76232983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:76231213..76235489-chr15:76235646..76238510,7	K562	blood:
2	chr15:76230088..76234622-chr15:76234992..76238934,7	K562	blood:
3	chr15:76228613..76230905-chr15:76232150..76235048,3	MCF-7	breast:
4	chr15:76230095..76231887-chr15:76232023..76234158,2	K562	blood:

Variant related genes	Relation type
ENSG00000169752	Chromatin interaction

Extended variants
information (count: 178 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs1039547	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13379955	1.00[CEU][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1394122	1.00[CEU][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1498196	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1498197	1.00[EUR][1000 genomes]
rs1498198	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1503955	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1532783	1.00[EUR][1000 genomes]
rs1562403	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1695365	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16967747	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs170830	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1874955	1.00[EUR][1000 genomes]
rs1874956	1.00[EUR][1000 genomes]
rs1910510	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1976328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2133099	1.00[EUR][1000 genomes]
rs2133408	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2133409	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2133410	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2405578	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2441928	0.93[ASW][hapmap];1.00[CEU][hapmap];0.83[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2454209	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2454210	1.00[CEU][hapmap]
rs2454212	1.00[CEU][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2454470	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2454472	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2455897	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2460795	1.00[EUR][1000 genomes]
rs2460796	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2460801	0.93[ASW][hapmap];1.00[CEU][hapmap];0.84[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2469038	1.00[EUR][1000 genomes]
rs2469040	1.00[EUR][1000 genomes]
rs2593275	0.93[ASW][hapmap];1.00[CEU][hapmap];0.84[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2593281	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2593302	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2604403	0.83[AMR][1000 genomes]
rs2604405	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2648435	0.86[ASW][hapmap];1.00[CEU][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs2655126	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2655137	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2947239	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2959851	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs334923	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs334937	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs334939	1.00[EUR][1000 genomes]
rs334940	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs334941	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs334951	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335673	1.00[EUR][1000 genomes]
rs335674	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs335675	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs335676	0.85[EUR][1000 genomes]
rs335678	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs335679	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335683	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335684	0.93[ASW][hapmap];1.00[CEU][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335687	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs335693	0.85[EUR][1000 genomes]
rs335694	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335695	1.00[EUR][1000 genomes]
rs335700	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335701	1.00[EUR][1000 genomes]
rs335710	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs335713	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335717	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335724	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs335725	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs335726	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs335728	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs335729	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs335730	1.00[EUR][1000 genomes]
rs335731	1.00[EUR][1000 genomes]
rs335732	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs335733	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4482249	1.00[EUR][1000 genomes]
rs4489969	1.00[EUR][1000 genomes]
rs4886750	0.85[EUR][1000 genomes]
rs55665712	1.00[EUR][1000 genomes]
rs55719276	1.00[EUR][1000 genomes]
rs55782145	1.00[EUR][1000 genomes]
rs55828994	1.00[EUR][1000 genomes]
rs56139080	1.00[EUR][1000 genomes]
rs56167836	1.00[EUR][1000 genomes]
rs56173902	1.00[EUR][1000 genomes]
rs56218266	1.00[EUR][1000 genomes]
rs57011816	1.00[EUR][1000 genomes]
rs57127155	1.00[EUR][1000 genomes]
rs57141410	1.00[EUR][1000 genomes]
rs57429900	1.00[EUR][1000 genomes]
rs57737646	1.00[EUR][1000 genomes]
rs57968453	1.00[EUR][1000 genomes]
rs57971067	1.00[EUR][1000 genomes]
rs57973358	1.00[EUR][1000 genomes]
rs58044283	1.00[EUR][1000 genomes]
rs58170668	0.92[EUR][1000 genomes]
rs58399164	1.00[EUR][1000 genomes]
rs58717562	1.00[EUR][1000 genomes]
rs58789594	1.00[EUR][1000 genomes]
rs59143042	1.00[EUR][1000 genomes]
rs59690620	1.00[EUR][1000 genomes]
rs59819402	1.00[EUR][1000 genomes]
rs59839117	1.00[EUR][1000 genomes]
rs60088262	1.00[EUR][1000 genomes]
rs60155009	1.00[EUR][1000 genomes]
rs60191258	1.00[EUR][1000 genomes]
rs60817295	1.00[EUR][1000 genomes]
rs60846313	1.00[EUR][1000 genomes]
rs61240117	1.00[EUR][1000 genomes]
rs61521312	1.00[EUR][1000 genomes]
rs62027568	1.00[EUR][1000 genomes]
rs7168988	1.00[EUR][1000 genomes]
rs7173697	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7174280	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7174365	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7175758	1.00[EUR][1000 genomes]
rs7177048	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7180064	1.00[EUR][1000 genomes]
rs7181550	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7182720	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs74024005	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024006	1.00[EUR][1000 genomes]
rs74024007	1.00[EUR][1000 genomes]
rs74024009	1.00[EUR][1000 genomes]
rs74024011	1.00[EUR][1000 genomes]
rs74024014	1.00[EUR][1000 genomes]
rs74024015	1.00[EUR][1000 genomes]
rs74024016	1.00[EUR][1000 genomes]
rs74024017	1.00[EUR][1000 genomes]
rs74024020	1.00[EUR][1000 genomes]
rs74024021	0.83[EUR][1000 genomes]
rs74024022	1.00[EUR][1000 genomes]
rs74024023	1.00[EUR][1000 genomes]
rs74024028	1.00[EUR][1000 genomes]
rs74024029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024030	1.00[EUR][1000 genomes]
rs74024032	1.00[EUR][1000 genomes]
rs74024035	1.00[EUR][1000 genomes]
rs74024038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024039	1.00[EUR][1000 genomes]
rs74024040	1.00[EUR][1000 genomes]
rs74024041	1.00[EUR][1000 genomes]
rs74024042	1.00[EUR][1000 genomes]
rs74024043	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024044	1.00[EUR][1000 genomes]
rs74024045	1.00[EUR][1000 genomes]
rs74024047	1.00[EUR][1000 genomes]
rs74024048	1.00[EUR][1000 genomes]
rs74024049	1.00[EUR][1000 genomes]
rs74024051	1.00[EUR][1000 genomes]
rs74024052	1.00[EUR][1000 genomes]
rs74024053	1.00[EUR][1000 genomes]
rs74024059	1.00[EUR][1000 genomes]
rs74024060	1.00[EUR][1000 genomes]
rs74024063	1.00[EUR][1000 genomes]
rs74024064	1.00[EUR][1000 genomes]
rs74024065	1.00[EUR][1000 genomes]
rs74024071	1.00[EUR][1000 genomes]
rs74024073	1.00[EUR][1000 genomes]
rs8025372	1.00[EUR][1000 genomes]
rs8028084	1.00[EUR][1000 genomes]
rs8028766	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8030102	1.00[CEU][hapmap]
rs8030469	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8030948	0.85[EUR][1000 genomes]
rs8031263	1.00[EUR][1000 genomes]
rs8033005	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8034430	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8035611	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8036952	1.00[CEU][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8038729	0.92[EUR][1000 genomes]
rs9672219	1.00[EUR][1000 genomes]
rs974718	1.00[CEU][hapmap];1.00[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	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1053717	chr15:76196674-76314542	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1040053	chr15:76197988-76314542	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv904398	chr15:76220285-76359055	Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv569998	chr15:76232605-76550938	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2648437	FBXO22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76211400-76240200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr15:76217200-76252000	Weak transcription	Pancreas	Pancrea
3	chr15:76222800-76233200	Strong transcription	NH-A	brain
4	chr15:76223600-76236200	Weak transcription	Fetal Heart	heart
5	chr15:76224800-76233000	Weak transcription	Fetal Intestine Small	intestine
6	chr15:76224800-76233400	Strong transcription	A549	lung
7	chr15:76226400-76236600	Weak transcription	Stomach Mucosa	stomach
8	chr15:76226600-76238600	Weak transcription	NHLF	lung
9	chr15:76226800-76233600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:76226800-76234600	Weak transcription	Adipose Nuclei	Adipose
11	chr15:76226800-76235000	Weak transcription	Fetal Kidney	kidney
12	chr15:76227000-76233400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr15:76227000-76234000	Weak transcription	HepG2	liver
14	chr15:76227800-76233000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr15:76227800-76236000	Weak transcription	Osteobl	bone
16	chr15:76228000-76233000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr15:76228000-76233200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr15:76228000-76234600	Weak transcription	Primary B cells from cord blood	blood
19	chr15:76228000-76235600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr15:76228000-76235600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:76228200-76233800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr15:76228200-76234000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:76228200-76239600	Weak transcription	Fetal Brain Female	brain
24	chr15:76228400-76236200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:76230000-76233600	Strong transcription	HSMM	muscle
26	chr15:76230400-76234000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:76230400-76236000	Weak transcription	NHEK	skin
28	chr15:76230400-76236200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:76230400-76236600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr15:76230600-76233200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:76230600-76233200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr15:76230600-76233800	Weak transcription	Fetal Intestine Large	intestine
33	chr15:76230600-76236000	Weak transcription	HSMMtube	muscle
34	chr15:76230600-76238600	Weak transcription	Left Ventricle	heart
35	chr15:76230600-76239400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:76230600-76244400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:76230800-76238200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr15:76230800-76246400	Weak transcription	Hela-S3	cervix
39	chr15:76231000-76239000	Weak transcription	Fetal Brain Male	brain
40	chr15:76231200-76234400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:76231200-76234600	Weak transcription	HUVEC	blood vessel
42	chr15:76231400-76233600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr15:76231400-76233600	Weak transcription	Liver	Liver
44	chr15:76231400-76239400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr15:76231600-76234000	Weak transcription	GM12878-XiMat	blood
46	chr15:76231600-76234600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:76231600-76236000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr15:76231800-76236000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:76232200-76233400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:76232200-76236000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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