Variant report

Variant	rs16830159
Chromosome Location	chr2:152385217-152385218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10497084	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11681877	0.89[JPT][hapmap]
rs11896481	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs12052998	0.90[ASN][1000 genomes]
rs16830019	0.86[CEU][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16830036	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16830047	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16830059	0.90[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16830061	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16830067	0.89[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16830086	0.89[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16830090	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16830096	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16830228	0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1993206	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2288206	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2288211	0.89[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs35389145	0.84[EUR][1000 genomes]
rs3732308	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3732312	0.89[ASN][1000 genomes]
rs4233653	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs4468813	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4491723	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4494741	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4664057	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4664058	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4664492	0.82[JPT][hapmap]
rs55900984	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56002721	0.89[ASN][1000 genomes]
rs56224718	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56898485	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58037758	0.89[ASN][1000 genomes]
rs59723161	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61254943	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62169378	0.80[ASN][1000 genomes]
rs62169380	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62169382	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62169384	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62169385	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62169386	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6726640	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6733645	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6742953	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72860229	0.81[ASN][1000 genomes]
rs72860230	0.85[EUR][1000 genomes]
rs72860235	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72860236	0.84[ASN][1000 genomes]
rs7422009	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7593710	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv834418	chr2:152205803-152385516	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv933869	chr2:152308156-152391576	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	esv3693428	chr2:152320932-152434896	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	esv1793381	chr2:152370040-152463631	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv10198	chr2:152370068-152463644	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152341600-152390600	Weak transcription	Left Ventricle	heart
2	chr2:152343200-152422200	Weak transcription	Primary B cells from cord blood	blood
3	chr2:152347000-152387200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:152348800-152400800	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:152358600-152394000	Weak transcription	Spleen	Spleen
6	chr2:152360800-152424400	Weak transcription	Brain Anterior Caudate	brain
7	chr2:152361000-152387800	Strong transcription	HSMMtube	muscle
8	chr2:152363200-152391800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:152365200-152415600	Weak transcription	Fetal Intestine Small	intestine
10	chr2:152370400-152403600	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:152371400-152421000	Weak transcription	Pancreas	Pancrea
12	chr2:152374200-152385600	Weak transcription	Psoas Muscle	Psoas
13	chr2:152377200-152391800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:152377400-152393800	Strong transcription	Fetal Muscle Leg	muscle
15	chr2:152378000-152386600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:152378400-152390600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:152380200-152388400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr2:152380400-152388200	Weak transcription	Right Ventricle	heart
19	chr2:152381000-152398000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:152381000-152410200	Weak transcription	Placenta	Placenta
21	chr2:152382800-152394000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:152383200-152392200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:152383200-152424000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr2:152383400-152396400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:152383800-152390000	Weak transcription	Aorta	Aorta
26	chr2:152385200-152385800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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