Variant report

Variant	rs4413193
Chromosome Location	chr2:53938038-53938039
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53931144..53933214-chr2:53937294..53940246,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10171954	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10178643	0.86[ASN][1000 genomes]
rs10188142	0.88[ASN][1000 genomes]
rs10192626	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10201938	0.87[ASN][1000 genomes]
rs10203095	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10490471	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11684084	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12621225	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13414216	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13432632	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2111622	0.84[ASN][1000 genomes]
rs2111623	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2160931	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2193682	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2193683	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2357693	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2542574	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2542576	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2542579	0.81[EUR][1000 genomes]
rs2542584	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2542585	0.84[ASN][1000 genomes]
rs2542588	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2542593	0.85[ASN][1000 genomes]
rs2692515	0.84[ASN][1000 genomes]
rs2692518	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2692531	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2692532	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2692536	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2692537	0.83[AFR][1000 genomes]
rs2909263	0.85[ASN][1000 genomes]
rs2949811	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2949812	0.84[ASN][1000 genomes]
rs3770403	0.89[EUR][1000 genomes]
rs3770405	0.85[EUR][1000 genomes]
rs3821081	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4671529	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4671583	0.81[ASN][1000 genomes]
rs56173218	0.83[ASN][1000 genomes]
rs62139835	0.83[EUR][1000 genomes]
rs6705712	0.88[ASN][1000 genomes]
rs6708095	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6738369	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6743627	0.83[EUR][1000 genomes]
rs698854	0.82[EUR][1000 genomes]
rs7557799	0.84[EUR][1000 genomes]
rs7557898	0.84[EUR][1000 genomes]
rs7563054	0.81[ASN][1000 genomes]
rs7572776	0.88[ASN][1000 genomes]
rs7573991	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7584474	0.84[EUR][1000 genomes]
rs7587217	0.82[EUR][1000 genomes]
rs7596349	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7601692	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805433	0.81[EUR][1000 genomes]
rs805436	0.80[EUR][1000 genomes]
rs805438	0.81[EUR][1000 genomes]
rs805439	0.81[EUR][1000 genomes]
rs918207	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	esv1844655	chr2:53929855-53972693	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4413193	ACYP2	cis	Esophagus Muscularis	GTEx
rs4413193	ACYP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53898000-53957400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
3	chr2:53910000-53941600	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:53918400-53994000	Weak transcription	Fetal Heart	heart
7	chr2:53925400-53979400	Weak transcription	Psoas Muscle	Psoas
8	chr2:53927600-53960200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:53933800-53944000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:53934200-53938200	Strong transcription	Adipose Nuclei	Adipose
11	chr2:53934200-53938400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr2:53934200-53942200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:53934800-53938200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:53934800-53939200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:53935200-53938200	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr2:53935200-53938400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:53935200-53938600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr2:53935200-53938600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr2:53935200-53939000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr2:53935400-53938200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr2:53935400-53938200	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr2:53935400-53938400	Strong transcription	Rectal Smooth Muscle	rectum
23	chr2:53935400-53938400	ZNF genes & repeats	Dnd41	blood
24	chr2:53935400-53938800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:53935400-53939200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:53935600-53938400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr2:53935800-53938200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
28	chr2:53936600-53938200	Strong transcription	Left Ventricle	heart
29	chr2:53936600-53938400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:53936600-53938400	Strong transcription	K562	blood
31	chr2:53936600-53938600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:53936600-53938600	Strong transcription	Liver	Liver
33	chr2:53936600-53938600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:53936600-53938600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr2:53936600-53938800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:53936600-53938800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:53936600-53938800	Strong transcription	Fetal Muscle Leg	muscle
38	chr2:53936600-53939800	Weak transcription	Osteobl	bone
39	chr2:53936600-53940000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:53936600-53940200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:53936600-53941000	Strong transcription	Fetal Stomach	stomach
42	chr2:53936600-53941400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:53936600-53941800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:53936600-53941800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr2:53936600-53944200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr2:53936600-53945400	Weak transcription	Colonic Mucosa	Colon
47	chr2:53936600-53968400	Weak transcription	Pancreas	Pancrea
48	chr2:53936600-53978600	Weak transcription	Hela-S3	cervix
49	chr2:53936800-53985400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:53937000-53938200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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