Variant report

Variant	rs2043713
Chromosome Location	chr2:55535620-55535621
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10182704	0.83[ASN][1000 genomes]
rs10184756	0.85[JPT][hapmap]
rs10198652	1.00[ASW][hapmap];0.80[CEU][hapmap];0.82[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs10454144	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11125563	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs11125565	0.81[ASN][1000 genomes]
rs11125566	0.82[ASN][1000 genomes]
rs12617891	0.92[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1545554	0.92[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap]
rs1902056	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1902057	0.92[CHD][hapmap];0.85[JPT][hapmap]
rs2045132	0.82[JPT][hapmap]
rs2576688	1.00[ASW][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2576696	0.80[CHB][hapmap]
rs2576703	0.85[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2589057	0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2589068	0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2589069	0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2589070	0.85[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2589078	0.85[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2589079	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2589104	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2864831	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2864832	0.84[ASN][1000 genomes]
rs2867178	0.85[JPT][hapmap]
rs2902857	0.83[ASN][1000 genomes]
rs2903507	1.00[AFR][1000 genomes]
rs2903509	0.85[JPT][hapmap]
rs2917777	0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2920963	0.82[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs2920970	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2920973	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs2966466	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs3099080	0.92[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs3099081	0.83[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3099083	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs3974263	1.00[AFR][1000 genomes]
rs4233960	0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4233961	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4484068	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs59634508	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61157332	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6710192	0.84[JPT][hapmap];1.00[AFR][1000 genomes]
rs6718031	0.83[ASN][1000 genomes]
rs6718909	0.81[ASN][1000 genomes]
rs6721593	1.00[YRI][hapmap]
rs6725968	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs6738970	0.86[CHB][hapmap];0.88[CHD][hapmap]
rs72924907	0.83[ASN][1000 genomes]
rs7557555	0.81[ASN][1000 genomes]
rs7589279	0.85[JPT][hapmap]
rs7590143	0.85[CHB][hapmap]
rs7601588	0.92[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7606361	0.92[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv874156	chr2:55474026-55636351	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv874157	chr2:55483020-55571085	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv874158	chr2:55513738-55619923	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv874159	chr2:55513738-55636351	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv457941	chr2:55517491-55585915	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv582030	chr2:55517491-55585915	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2043713	ACYP2	cis	parietal	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55509000-55541200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:55509400-55545200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:55510000-55541600	Weak transcription	Esophagus	oesophagus
4	chr2:55510000-55553600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:55510000-55578800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:55510200-55542200	Weak transcription	Fetal Intestine Large	intestine
7	chr2:55510200-55559000	Weak transcription	Psoas Muscle	Psoas
8	chr2:55510200-55616800	Weak transcription	Fetal Intestine Small	intestine
9	chr2:55510600-55536600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:55510600-55537400	Weak transcription	Lung	lung
11	chr2:55510800-55542200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:55511000-55540600	Weak transcription	Spleen	Spleen
13	chr2:55511200-55542200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:55511200-55547000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:55512000-55549800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:55512400-55577400	Weak transcription	Right Ventricle	heart
17	chr2:55512600-55546000	Weak transcription	Small Intestine	intestine
18	chr2:55514800-55549600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:55515800-55550400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:55518600-55591400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:55519800-55579000	Weak transcription	Primary B cells from cord blood	blood
22	chr2:55520000-55538800	Weak transcription	Ovary	ovary
23	chr2:55520000-55541200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:55520200-55539000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:55520200-55554400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:55520400-55591200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr2:55521400-55591000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:55523000-55537400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:55523000-55538800	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:55523000-55548000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:55523000-55584400	Weak transcription	Aorta	Aorta
32	chr2:55523200-55537800	Weak transcription	HSMMtube	muscle
33	chr2:55523200-55584800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr2:55523600-55535800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:55523600-55537400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:55523600-55537800	Weak transcription	Fetal Heart	heart
37	chr2:55523600-55541000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:55523600-55542000	Weak transcription	Fetal Brain Male	brain
39	chr2:55523600-55548000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:55523600-55600600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:55523800-55538400	Weak transcription	NHEK	skin
42	chr2:55523800-55541000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:55524000-55536400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:55524000-55541200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:55524400-55538800	Weak transcription	Left Ventricle	heart
46	chr2:55524800-55536200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:55524800-55543200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:55524800-55549400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:55525200-55536000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:55526400-55549600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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