Variant report

Variant	rs2193683
Chromosome Location	chr2:53922456-53922457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:53922385-53922591	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GPR75-ASB3	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10171954	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10178643	0.84[ASN][1000 genomes]
rs10188142	0.86[ASN][1000 genomes]
rs10192626	0.81[ASN][1000 genomes]
rs10201938	0.85[ASN][1000 genomes]
rs10203095	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10490471	0.81[ASN][1000 genomes]
rs11125515	0.86[ASN][1000 genomes]
rs11682721	0.87[ASN][1000 genomes]
rs11684084	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11889094	0.88[ASN][1000 genomes]
rs11896043	0.87[EUR][1000 genomes]
rs11902691	0.85[ASN][1000 genomes]
rs12611475	0.82[ASN][1000 genomes]
rs12620583	0.90[ASN][1000 genomes]
rs12621225	0.82[ASN][1000 genomes]
rs13414216	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13432632	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2080715	0.88[ASN][1000 genomes]
rs2111622	0.82[ASN][1000 genomes]
rs2111623	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2111851	0.84[EUR][1000 genomes]
rs2160929	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2160930	0.85[EUR][1000 genomes]
rs2160931	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2193682	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2357693	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2542574	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2542576	0.82[EUR][1000 genomes]
rs2542584	0.82[ASN][1000 genomes]
rs2542585	0.82[ASN][1000 genomes]
rs2542588	0.85[ASN][1000 genomes]
rs2542593	0.84[ASN][1000 genomes]
rs2692515	0.83[ASN][1000 genomes]
rs2692518	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2692531	0.81[ASN][1000 genomes]
rs2692532	0.82[ASN][1000 genomes]
rs2692536	0.82[ASN][1000 genomes]
rs2909263	0.84[ASN][1000 genomes]
rs2949811	0.84[ASN][1000 genomes]
rs2949812	0.83[ASN][1000 genomes]
rs3770403	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770405	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3821081	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4413193	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671529	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56173218	0.81[ASN][1000 genomes]
rs56291505	0.88[ASN][1000 genomes]
rs62139772	0.83[ASN][1000 genomes]
rs62139780	0.88[ASN][1000 genomes]
rs62139783	0.90[ASN][1000 genomes]
rs62139835	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6705712	0.82[ASN][1000 genomes]
rs6708095	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6713107	0.91[ASN][1000 genomes]
rs6714891	0.88[ASN][1000 genomes]
rs6727876	0.88[ASN][1000 genomes]
rs6728355	0.86[ASN][1000 genomes]
rs6738369	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6741239	0.91[ASN][1000 genomes]
rs6743627	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6757393	0.82[ASN][1000 genomes]
rs7556791	0.91[ASN][1000 genomes]
rs7557799	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7557898	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7563054	0.94[ASN][1000 genomes]
rs7572776	0.86[ASN][1000 genomes]
rs7573991	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7584474	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7587217	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7596349	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7601692	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs918207	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916267	chr2:53747525-53955999	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv984439	chr2:53861720-53955437	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1011449	chr2:53894529-53947781	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1009107	chr2:53896767-53946913	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1014949	chr2:53896767-53947781	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1011400	chr2:53899956-53947781	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2193683	ACYP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53874200-53935000	Weak transcription	Pancreas	Pancrea
2	chr2:53881400-53934400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:53885600-53925000	Weak transcription	Fetal Intestine Small	intestine
4	chr2:53888200-53934200	Weak transcription	Lung	lung
5	chr2:53888400-53935200	Weak transcription	Fetal Brain Male	brain
6	chr2:53888600-53935200	Weak transcription	Hela-S3	cervix
7	chr2:53889000-53935800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:53893800-53926800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:53894400-53925000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:53894400-53933800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:53895400-53925800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:53895400-53926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:53895800-53926200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:53896400-53926000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:53896800-53924800	Weak transcription	Thymus	Thymus
16	chr2:53896800-53936600	Weak transcription	Aorta	Aorta
17	chr2:53898000-53957400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:53898200-53935400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:53898200-53935400	Weak transcription	Fetal Kidney	kidney
20	chr2:53900600-53926400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:53900600-53935600	Weak transcription	K562	blood
22	chr2:53900800-53936400	Weak transcription	NH-A	brain
23	chr2:53900800-53936800	Weak transcription	NHLF	lung
24	chr2:53906600-53933800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:53906800-53935200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:53907200-53927000	Weak transcription	Placenta	Placenta
27	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
28	chr2:53908800-53926000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:53909000-53934400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:53909000-53935200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:53910000-53935200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:53910000-53941600	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:53910600-53933600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:53911200-53926000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:53911400-53925000	Weak transcription	Fetal Stomach	stomach
38	chr2:53911400-53935400	Weak transcription	Right Ventricle	heart
39	chr2:53911600-53936200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:53912200-53925200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:53912400-53936200	Weak transcription	Gastric	stomach
42	chr2:53912600-53933600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:53912800-53927000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:53913000-53936200	Weak transcription	Spleen	Spleen
45	chr2:53913400-53926400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:53914000-53924000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:53914200-53922800	Strong transcription	Primary B cells from cord blood	blood
48	chr2:53914200-53934800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:53914600-53926800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:53915600-53924800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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