Variant report

Variant	rs778465
Chromosome Location	chr3:23512861-23512862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:23505766..23508563-chr3:23511877..23514869,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10510539	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11129120	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11706875	0.93[ASN][1000 genomes]
rs11712991	0.98[ASN][1000 genomes]
rs11713090	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11715736	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11717508	0.95[ASN][1000 genomes]
rs11718111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13316118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13323077	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs1391756	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1498810	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1498812	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1692619	0.94[CEU][hapmap];0.82[YRI][hapmap];0.80[EUR][1000 genomes]
rs1692621	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1692646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1692647	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs1692648	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1692649	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1695180	0.94[CEU][hapmap];0.83[YRI][hapmap]
rs1695183	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1695185	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1695192	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs1695197	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1695203	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs1695205	0.81[AFR][1000 genomes]
rs17013268	0.94[CEU][hapmap];0.93[CHB][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17013425	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17194751	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1874234	0.94[CEU][hapmap];0.83[YRI][hapmap]
rs1874502	0.94[CEU][hapmap];1.00[YRI][hapmap]
rs1874503	0.94[CEU][hapmap];0.84[JPT][hapmap];0.83[YRI][hapmap]
rs1995173	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1995174	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1995175	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs2036044	0.94[CEU][hapmap];0.83[YRI][hapmap]
rs2036045	0.85[YRI][hapmap]
rs2055155	0.83[YRI][hapmap]
rs2055307	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2173057	0.94[CEU][hapmap]
rs2359755	0.88[CEU][hapmap];0.88[YRI][hapmap]
rs2359761	0.94[CEU][hapmap];0.83[YRI][hapmap]
rs28367247	0.98[ASN][1000 genomes]
rs4858070	0.94[CEU][hapmap];0.81[YRI][hapmap]
rs4858490	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs4858495	0.94[CEU][hapmap];0.83[YRI][hapmap]
rs4858499	0.88[CEU][hapmap]
rs4858507	0.94[CEU][hapmap];1.00[YRI][hapmap]
rs4858517	0.93[ASN][1000 genomes]
rs5023615	0.94[CEU][hapmap];1.00[YRI][hapmap]
rs56034809	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58130044	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58618629	0.93[ASN][1000 genomes]
rs59012069	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60028742	0.96[ASN][1000 genomes]
rs60137984	0.98[ASN][1000 genomes]
rs62255784	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62255785	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62255789	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62256025	0.97[ASN][1000 genomes]
rs62256972	0.97[ASN][1000 genomes]
rs62256973	0.98[ASN][1000 genomes]
rs62256975	0.98[ASN][1000 genomes]
rs62256976	0.98[ASN][1000 genomes]
rs62256977	0.98[ASN][1000 genomes]
rs62256982	0.98[ASN][1000 genomes]
rs62256990	0.95[ASN][1000 genomes]
rs62256991	0.93[ASN][1000 genomes]
rs6550760	0.93[CEU][hapmap];0.81[YRI][hapmap]
rs66864142	0.91[ASN][1000 genomes]
rs6774454	0.98[ASN][1000 genomes]
rs6780388	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs6790327	0.94[CEU][hapmap];0.83[YRI][hapmap]
rs6801824	0.94[CEU][hapmap];0.84[JPT][hapmap];0.83[YRI][hapmap]
rs6807859	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68093882	0.98[ASN][1000 genomes]
rs73139773	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73140507	0.92[ASN][1000 genomes]
rs73140523	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73140544	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7430428	0.98[ASN][1000 genomes]
rs7614195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7636705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7643705	0.94[CEU][hapmap];0.83[YRI][hapmap]
rs7646541	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs7648425	0.83[YRI][hapmap]
rs778463	0.94[CEU][hapmap];0.82[YRI][hapmap]
rs778473	0.91[ASN][1000 genomes]
rs778479	0.83[EUR][1000 genomes]
rs778483	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs778489	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs778491	0.88[EUR][1000 genomes]
rs778492	0.94[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778497	0.94[CEU][hapmap];0.93[CHB][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs778502	1.00[CEU][hapmap];0.92[CHB][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778511	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs778512	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs778513	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs778515	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs778516	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs778517	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs778518	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs778519	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs778520	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs778522	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs778524	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs778525	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs778527	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs801277	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs809640	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs875443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs931609	0.94[CEU][hapmap];0.82[YRI][hapmap]
rs9631541	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs9757330	0.94[CEU][hapmap];0.83[YRI][hapmap]
rs9758590	0.94[CEU][hapmap];0.83[YRI][hapmap]
rs9815299	0.94[CEU][hapmap];1.00[YRI][hapmap]
rs9848331	0.83[YRI][hapmap]
rs9848389	0.94[CEU][hapmap];0.81[YRI][hapmap]
rs9862734	0.85[CEU][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23498200-23516200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:23506800-23516400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:23507200-23516600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:23507400-23516200	Weak transcription	HSMMtube	muscle
5	chr3:23511600-23516400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:23512000-23523000	Weak transcription	Psoas Muscle	Psoas
7	chr3:23512000-23527400	Weak transcription	Left Ventricle	heart
8	chr3:23512600-23513800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr3:23512800-23513000	Enhancers	Brain Anterior Caudate	brain
10	chr3:23512800-23513000	Enhancers	Brain Substantia Nigra	brain
11	chr3:23512800-23513000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr3:23512800-23513000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr3:23512800-23513400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:23512800-23513800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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