Variant report

Variant	rs332771
Chromosome Location	chr1:174673279-174673280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1016466	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10753086	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10912797	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10912804	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10912807	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10912813	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11804541	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11804941	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12060177	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12074753	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12088073	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12094143	0.81[ASN][1000 genomes]
rs1653626	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1653627	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1653632	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1754349	0.86[EUR][1000 genomes]
rs1754351	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1754355	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1793297	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1793300	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1793308	0.96[ASN][1000 genomes]
rs1793309	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2072760	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2142633	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2187562	0.86[EUR][1000 genomes]
rs2981894	0.86[EUR][1000 genomes]
rs2987869	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2987874	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3018410	0.86[EUR][1000 genomes]
rs3118980	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3133270	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs332765	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs332770	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs332773	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs332789	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs332791	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs332795	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs332805	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34819375	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4233195	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs444678	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs461910	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55741955	0.81[EUR][1000 genomes]
rs56199565	0.81[ASN][1000 genomes]
rs56347239	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61828140	0.81[EUR][1000 genomes]
rs61828142	0.80[EUR][1000 genomes]
rs6425282	0.80[ASN][1000 genomes]
rs6425287	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6664864	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6668053	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6671824	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6672148	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6683602	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6689170	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6696197	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67967476	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7538588	0.81[EUR][1000 genomes]
rs7542389	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7545910	0.82[EUR][1000 genomes]
rs7555533	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9425784	0.91[ASN][1000 genomes]
rs9628627	0.92[ASN][1000 genomes]
rs9700904	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs989423	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1014753	chr1:174271770-174694838	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174607600-174677800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174646800-174677600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:174646800-174680400	Weak transcription	Ovary	ovary
4	chr1:174651800-174677400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:174652400-174677400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:174652400-174678800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:174660600-174677600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:174662000-174673400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:174665800-174677400	Weak transcription	Fetal Intestine Small	intestine
10	chr1:174665800-174680000	Weak transcription	Fetal Intestine Large	intestine
11	chr1:174665800-174682600	Weak transcription	Left Ventricle	heart
12	chr1:174666000-174677800	Weak transcription	Primary T cells from cord blood	blood
13	chr1:174668400-174682600	Weak transcription	Gastric	stomach
14	chr1:174669600-174684000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:174669800-174676000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:174670000-174676000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:174670200-174673800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:174670200-174675800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:174670800-174676000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:174671400-174673800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:174671400-174676800	Weak transcription	NHDF-Ad	bronchial
22	chr1:174672600-174682600	Weak transcription	Right Ventricle	heart
23	chr1:174673000-174679400	Weak transcription	GM12878-XiMat	blood
24	chr1:174673200-174674600	Enhancers	Liver	Liver

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