Variant report

Variant	rs3133270
Chromosome Location	chr1:174788685-174788686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174787266..174788950-chr1:174846455..174848064,2	K562	blood:
2	chr1:174787877..174789729-chr1:174792923..174795229,2	K562	blood:
3	chr1:174787124..174790078-chr1:174796659..174798420,2	K562	blood:

Variant related genes	Relation type
ENSG00000152061	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10436863	0.85[EUR][1000 genomes]
rs1046439	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs10753086	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10912813	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10912824	0.85[CEU][hapmap]
rs11804941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12060177	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12083837	0.85[EUR][1000 genomes]
rs1653626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1653627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1653632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs170768	0.85[CEU][hapmap]
rs1754349	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1754351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1754355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1793297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1793300	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1793308	0.86[ASN][1000 genomes]
rs1793309	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1793319	0.85[CEU][hapmap]
rs1801791	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs1984418	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs2187562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2285210	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs2981894	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2987869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2987874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3018410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3118980	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs332765	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs332770	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs332771	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs332773	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs332783	0.81[CEU][hapmap]
rs332789	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs332791	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs332795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs332796	0.85[CEU][hapmap]
rs332805	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs333418	0.85[CEU][hapmap]
rs34819375	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3753563	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4233195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs444678	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs461910	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4651238	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55741955	0.86[EUR][1000 genomes]
rs61828140	0.86[EUR][1000 genomes]
rs61828142	0.86[EUR][1000 genomes]
rs6425305	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs6425309	0.90[JPT][hapmap]
rs6425310	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs6656665	0.84[EUR][1000 genomes]
rs6658861	0.85[CEU][hapmap]
rs6664864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6665216	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs6671824	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6672148	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6683602	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6688577	0.81[CEU][hapmap]
rs6689170	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6696197	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6701968	1.00[YRI][hapmap]
rs67967476	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7538588	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs7545910	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7555533	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9628627	0.80[ASN][1000 genomes]
rs9700904	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9804056	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs989423	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
4	nsv548198	chr1:174731596-174800872	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1824383	chr1:174764839-174801748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1844306	chr1:174764839-174801748	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1819206	chr1:174764839-174802731	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1844208	chr1:174764839-174818547	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1847553	chr1:174764839-174818547	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1800291	chr1:174782523-174789611	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1820274	chr1:174782523-174802731	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174770000-174794200	Weak transcription	Fetal Thymus	thymus
2	chr1:174772200-174796600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:174777600-174799800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:174782000-174800800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:174782200-174794800	Weak transcription	Fetal Intestine Small	intestine
6	chr1:174782200-174813000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:174782600-174799200	Weak transcription	Liver	Liver
8	chr1:174783600-174789200	Enhancers	NHEK	skin
9	chr1:174783800-174789000	Enhancers	HMEC	breast
10	chr1:174784400-174789200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:174784400-174797200	Weak transcription	Esophagus	oesophagus
12	chr1:174784800-174806600	Weak transcription	HSMMtube	muscle
13	chr1:174785600-174789200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:174785600-174796000	Weak transcription	Primary B cells from cord blood	blood
15	chr1:174785600-174796800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:174786400-174788800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:174786400-174789000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:174786600-174789000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:174786800-174798200	Weak transcription	Left Ventricle	heart

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