Variant report

Variant	rs162488
Chromosome Location	chr21:28312647-28312648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1497288	1.00[ASN][1000 genomes]
rs151056	0.85[EUR][1000 genomes]
rs151059	0.91[EUR][1000 genomes]
rs162490	0.87[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162491	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162492	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162493	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162494	0.91[EUR][1000 genomes]
rs162496	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs162497	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs162498	0.91[CEU][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162499	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs162501	1.00[ASN][1000 genomes]
rs162503	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162504	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162505	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162506	0.82[CEU][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes]
rs162507	0.82[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162508	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162510	0.91[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162516	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162520	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162521	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162531	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162532	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs162533	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162534	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162535	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162536	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162537	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162538	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162539	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162540	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162541	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229045	0.85[EUR][1000 genomes]
rs229046	0.85[EUR][1000 genomes]
rs229049	0.91[EUR][1000 genomes]
rs229050	0.91[EUR][1000 genomes]
rs229053	0.87[YRI][hapmap]
rs229060	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229061	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229063	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229064	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229069	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229071	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229076	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229078	0.83[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229079	0.82[EUR][1000 genomes]
rs229085	1.00[ASN][1000 genomes]
rs229087	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229088	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229089	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229090	0.85[EUR][1000 genomes]
rs229091	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs229093	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229095	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229097	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229103	1.00[ASN][1000 genomes]
rs229109	0.82[EUR][1000 genomes]
rs233897	0.91[EUR][1000 genomes]
rs233898	0.91[EUR][1000 genomes]
rs233899	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233900	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830556	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830584	0.85[EUR][1000 genomes]
rs2830589	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs389125	0.81[EUR][1000 genomes]
rs431134	0.83[EUR][1000 genomes]
rs457947	1.00[ASN][1000 genomes]
rs4817147	1.00[ASN][1000 genomes]
rs7281968	0.85[EUR][1000 genomes]
rs73358063	1.00[ASN][1000 genomes]
rs73358075	1.00[ASN][1000 genomes]
rs73899348	1.00[ASN][1000 genomes]
rs8127064	1.00[ASN][1000 genomes]
rs8131204	1.00[ASN][1000 genomes]
rs8992	1.00[ASN][1000 genomes]
rs9647124	1.00[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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28293000-28334800	Weak transcription	Hela-S3	cervix
2	chr21:28294600-28318000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr21:28294600-28318200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr21:28295400-28318200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr21:28296600-28315400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr21:28296800-28318200	Weak transcription	Left Ventricle	heart
7	chr21:28298600-28313000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr21:28298800-28318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr21:28301800-28313000	Strong transcription	HSMMtube	muscle
10	chr21:28305800-28319200	Weak transcription	Placenta	Placenta
11	chr21:28306600-28333600	Weak transcription	Fetal Intestine Large	intestine
12	chr21:28307400-28318200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:28307400-28318200	Weak transcription	Fetal Stomach	stomach
14	chr21:28307600-28324800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr21:28309600-28337200	Weak transcription	Fetal Heart	heart
16	chr21:28310600-28313200	Enhancers	Liver	Liver
17	chr21:28311000-28313000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr21:28311200-28313200	Enhancers	NHLF	lung
19	chr21:28311600-28314000	Enhancers	Adipose Nuclei	Adipose
20	chr21:28311800-28314600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr21:28311800-28315000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr21:28312000-28312800	Flanking Active TSS	NHDF-Ad	bronchial
23	chr21:28312200-28314800	Enhancers	Osteobl	bone
24	chr21:28312200-28315800	Genic enhancers	HSMM	muscle
25	chr21:28312200-28318200	Weak transcription	Fetal Kidney	kidney
26	chr21:28312200-28318200	Weak transcription	Fetal Muscle Leg	muscle
27	chr21:28312200-28318200	Weak transcription	Psoas Muscle	Psoas
28	chr21:28312400-28312800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:28312400-28312800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr21:28312400-28312800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr21:28312400-28313200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:28312400-28315200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr21:28312400-28315200	Weak transcription	Ovary	ovary
34	chr21:28312400-28315400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr21:28312400-28318400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr21:28312600-28313600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr21:28312600-28318200	Weak transcription	Fetal Lung	lung

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