Variant report

Variant	rs16853344
Chromosome Location	chr2:168115769-168115770
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	chr2:168114351..168116891-chr2:168133743..168135416,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10189334	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10192896	0.80[EUR][1000 genomes]
rs1048981	0.84[CEU][hapmap];0.92[YRI][hapmap]
rs1048982	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10497321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10803822	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10930264	0.80[EUR][1000 genomes]
rs10930265	0.83[EUR][1000 genomes]
rs12105767	0.84[EUR][1000 genomes]
rs1357599	0.83[EUR][1000 genomes]
rs1403894	0.83[EUR][1000 genomes]
rs1479587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1479591	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1523878	0.82[EUR][1000 genomes]
rs1540820	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1540821	0.81[EUR][1000 genomes]
rs1581484	0.80[EUR][1000 genomes]
rs1581485	0.80[EUR][1000 genomes]
rs16822928	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16853266	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853267	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16853279	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853284	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853286	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853288	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853290	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853296	1.00[CEU][hapmap];0.84[CHB][hapmap];0.84[EUR][1000 genomes]
rs16853305	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs16853306	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs16853309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853328	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853330	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs16853331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853346	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16853348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853353	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853360	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853370	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1851760	0.80[EUR][1000 genomes]
rs1916746	0.80[EUR][1000 genomes]
rs2103098	0.80[EUR][1000 genomes]
rs2177441	0.83[EUR][1000 genomes]
rs2689823	0.80[EUR][1000 genomes]
rs2689842	0.80[EUR][1000 genomes]
rs2927600	0.82[EUR][1000 genomes]
rs3749004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3749006	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4538166	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57797869	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58013803	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59889092	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60102532	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60214239	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61529696	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61748715	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61750760	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432988	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715974	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6716354	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6726067	0.80[EUR][1000 genomes]
rs6728044	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6731860	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6735992	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6739872	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744215	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6746887	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6747157	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6747227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6749022	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6749144	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6759681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73012072	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73029738	0.89[EUR][1000 genomes]
rs73029753	0.82[EUR][1000 genomes]
rs73970900	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73972208	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73972212	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73972213	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73972215	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73972216	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73972217	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73972224	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73972228	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73972230	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7564281	0.92[JPT][hapmap]
rs7573953	0.91[CEU][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7575951	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578175	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7580183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593641	0.80[EUR][1000 genomes]
rs7600424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601984	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602109	0.92[CEU][hapmap];0.86[YRI][hapmap];0.89[EUR][1000 genomes]
rs7602259	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603405	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604377	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7607246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs922536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs922537	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9287881	0.85[EUR][1000 genomes]
rs9751663	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9751666	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583591	chr2:168037489-168132892	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv979347	chr2:168092753-168141678	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168104000-168122200	Weak transcription	Left Ventricle	heart
2	chr2:168113400-168115800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:168113400-168115800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:168113400-168116000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:168113400-168116000	Strong transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:168113400-168116200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:168113600-168116400	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:168114000-168118000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:168114800-168116200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:168115000-168116000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:168115000-168116000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:168115200-168116000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:168115200-168116000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:168115200-168117000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:168115400-168116000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:168115600-168116000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:168115600-168116000	Enhancers	Fetal Muscle Leg	muscle

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