Variant report

Variant	rs12695743
Chromosome Location	chr3:141324095-141324096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141323458..141325878-chr3:141335451..141337403,2	K562	blood:
2	chr3:141321841..141324278-chr3:141328067..141329902,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1077181	0.85[ASW][hapmap];0.80[CEU][hapmap]
rs11557453	0.88[CEU][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11707656	0.87[EUR][1000 genomes]
rs11709875	0.84[CEU][hapmap]
rs11711318	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11713714	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11714208	0.93[ASW][hapmap];0.84[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717144	0.92[CEU][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717842	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs12695740	0.86[ASW][hapmap];0.96[CEU][hapmap];0.86[GIH][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12695741	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13059128	0.85[ASW][hapmap]
rs13062809	0.93[ASN][1000 genomes]
rs13067519	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13068454	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13072100	0.88[CEU][hapmap]
rs13078872	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs13083593	0.88[CEU][hapmap]
rs13084444	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs13088429	0.84[CEU][hapmap]
rs13095168	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13099945	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863870	0.84[CEU][hapmap]
rs2312194	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2312266	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34317570	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34342794	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3732872	0.83[ASN][1000 genomes]
rs3806647	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4334619	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71619392	0.81[EUR][1000 genomes]
rs720663	0.86[ASW][hapmap];0.92[CEU][hapmap];0.81[GIH][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7651511	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9289629	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs9289634	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9808953	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9822575	0.92[CEU][hapmap];0.86[GIH][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9823528	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9829588	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9830055	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9833121	0.93[ASW][hapmap];0.92[CEU][hapmap];0.81[GIH][hapmap];0.91[TSI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9836050	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9836818	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9837202	0.84[CEU][hapmap]
rs9838230	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9838419	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9840159	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9840697	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9843866	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9849180	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs9850416	0.92[CEU][hapmap];0.82[GIH][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9865971	0.86[ASW][hapmap];0.92[CEU][hapmap];0.81[GIH][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9868956	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9870749	0.93[ASW][hapmap];0.92[CEU][hapmap];0.84[GIH][hapmap];0.91[TSI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9873042	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12695743	ACPL2	cis	lymphoblastoid	seeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141265200-141336200	Weak transcription	Psoas Muscle	Psoas
2	chr3:141276400-141329400	Weak transcription	Small Intestine	intestine
3	chr3:141277200-141341400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:141281800-141329400	Weak transcription	Fetal Brain Male	brain
5	chr3:141297600-141325000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:141298000-141328400	Weak transcription	Hela-S3	cervix
7	chr3:141298600-141326800	Weak transcription	Fetal Heart	heart
8	chr3:141300200-141328800	Weak transcription	K562	blood
9	chr3:141300600-141324600	Weak transcription	Gastric	stomach
10	chr3:141301600-141327000	Weak transcription	Brain Angular Gyrus	brain
11	chr3:141302000-141326800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:141305200-141329000	Weak transcription	NHLF	lung
13	chr3:141306200-141328800	Weak transcription	Right Ventricle	heart
14	chr3:141307400-141328400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:141310400-141327000	Weak transcription	Fetal Kidney	kidney
16	chr3:141310400-141327200	Weak transcription	HepG2	liver
17	chr3:141313200-141344000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:141313400-141328800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:141315000-141328800	Weak transcription	Colonic Mucosa	Colon
20	chr3:141315200-141328800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:141315800-141326800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:141315800-141328600	Weak transcription	Brain Anterior Caudate	brain
23	chr3:141316200-141326800	Weak transcription	HMEC	breast
24	chr3:141316200-141327400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:141316400-141327000	Weak transcription	Liver	Liver
26	chr3:141318800-141326000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr3:141319400-141329400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:141319600-141324600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:141319600-141326200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr3:141319600-141326800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr3:141319600-141327200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr3:141319600-141327400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:141319600-141327400	Weak transcription	Lung	lung
34	chr3:141319600-141329000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:141319600-141329600	Weak transcription	HSMMtube	muscle
36	chr3:141319800-141326600	Weak transcription	HUVEC	blood vessel
37	chr3:141319800-141327000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr3:141319800-141327000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:141320000-141324200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr3:141320000-141324600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr3:141320000-141324600	Weak transcription	NHDF-Ad	bronchial
42	chr3:141320000-141326800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr3:141320000-141326800	Weak transcription	NH-A	brain
44	chr3:141320200-141324400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:141320200-141324600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr3:141320200-141324600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr3:141320200-141326800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:141320200-141328800	Weak transcription	Spleen	Spleen
49	chr3:141320200-141329000	Weak transcription	Pancreas	Pancrea
50	chr3:141320200-141329400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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