Variant report

Variant	rs229078
Chromosome Location	chr21:28296135-28296136
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:27211146..27213931-chr21:28295313..28297044,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1497288	1.00[ASN][1000 genomes]
rs151056	0.87[EUR][1000 genomes]
rs151059	0.80[EUR][1000 genomes]
rs162488	0.83[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162490	0.82[ASW][hapmap];0.87[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162491	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162492	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162493	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162494	0.80[EUR][1000 genomes]
rs162496	0.83[CEU][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs162497	0.83[CEU][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs162498	0.91[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162499	0.83[CEU][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs162501	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs162503	1.00[ASN][1000 genomes]
rs162504	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs162505	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162506	0.85[GIH][hapmap];0.82[TSI][hapmap];0.85[YRI][hapmap]
rs162507	0.87[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162508	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162510	0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162516	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162520	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162521	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162531	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162532	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs162533	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162534	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162535	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162536	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162537	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162538	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162539	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162540	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162541	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229045	0.87[EUR][1000 genomes]
rs229046	0.87[EUR][1000 genomes]
rs229049	0.80[EUR][1000 genomes]
rs229050	0.80[EUR][1000 genomes]
rs229053	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs229060	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229061	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229063	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229064	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229069	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229071	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229076	0.96[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229079	0.87[CEU][hapmap];0.85[GIH][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs229085	1.00[ASN][1000 genomes]
rs229087	0.96[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229088	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229089	0.96[CEU][hapmap];0.91[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs229090	0.87[EUR][1000 genomes]
rs229091	0.91[CEU][hapmap];0.88[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs229093	0.91[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229095	0.91[CEU][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229097	0.91[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229103	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229109	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229110	0.86[EUR][1000 genomes]
rs233897	0.81[EUR][1000 genomes]
rs233898	0.81[EUR][1000 genomes]
rs233899	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233900	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830556	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830584	0.87[EUR][1000 genomes]
rs2830589	0.80[EUR][1000 genomes]
rs389125	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs431134	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs457947	1.00[ASN][1000 genomes]
rs4817147	1.00[ASN][1000 genomes]
rs7281968	0.87[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[JPT][hapmap];1.00[ASN][1000 genomes]
rs9647124	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv1065825	chr21:28282660-28296389	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
6	nsv1067026	chr21:28282660-28298049	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
7	nsv1066904	chr21:28282834-28296389	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28289600-28298000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:28290800-28296200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr21:28290800-28297200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr21:28291000-28297600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr21:28291000-28297800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr21:28291000-28311800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr21:28291200-28297400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr21:28291400-28297600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:28291400-28299400	Weak transcription	NHLF	lung
10	chr21:28291600-28312200	Strong transcription	HSMM	muscle
11	chr21:28291800-28296200	Strong transcription	HSMMtube	muscle
12	chr21:28292600-28296200	Weak transcription	Left Ventricle	heart
13	chr21:28292800-28298400	Weak transcription	Pancreas	Pancrea
14	chr21:28293000-28298000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr21:28293000-28334800	Weak transcription	Hela-S3	cervix
16	chr21:28293200-28297400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:28293800-28297000	Strong transcription	NHDF-Ad	bronchial
18	chr21:28293800-28298200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr21:28293800-28303600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr21:28294600-28296200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:28294600-28296200	Weak transcription	Fetal Stomach	stomach
22	chr21:28294600-28305800	Weak transcription	Small Intestine	intestine
23	chr21:28294600-28318000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr21:28294600-28318200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr21:28294800-28298000	Weak transcription	Placenta	Placenta
26	chr21:28294800-28307200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:28295000-28296200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr21:28295000-28297000	Strong transcription	Fetal Kidney	kidney
29	chr21:28295000-28303600	Weak transcription	Fetal Intestine Small	intestine
30	chr21:28295200-28297000	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr21:28295200-28306600	Strong transcription	Osteobl	bone
32	chr21:28295200-28310000	Strong transcription	Adipose Nuclei	Adipose
33	chr21:28295400-28297800	Weak transcription	Fetal Brain Female	brain
34	chr21:28295400-28297800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr21:28295400-28300400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr21:28295400-28318200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr21:28295600-28300600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr21:28295800-28296200	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr21:28295800-28296200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr21:28295800-28296800	Strong transcription	Fetal Intestine Large	intestine
41	chr21:28295800-28298000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr21:28295800-28300400	Strong transcription	Fetal Muscle Leg	muscle
43	chr21:28296000-28296200	Weak transcription	Spleen	Spleen
44	chr21:28296000-28296800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr21:28296000-28296800	Strong transcription	Fetal Lung	lung
46	chr21:28296000-28298000	Strong transcription	Ovary	ovary

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