Variant report

Variant	rs9977087
Chromosome Location	chr21:28297854-28297855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10446077	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11909037	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16979728	1.00[ASN][1000 genomes]
rs1974414	1.00[ASN][1000 genomes]
rs28409680	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4101218	1.00[ASN][1000 genomes]
rs73354230	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73354266	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73356158	1.00[ASN][1000 genomes]
rs9305294	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9976701	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9978597	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9978691	0.81[EUR][1000 genomes]
rs9979835	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9980101	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9981919	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9982289	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9982674	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9983798	0.94[EUR][1000 genomes];1.00[ASN][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	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	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

No data

Chromatin state (count:50 , 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	chr21:28291000-28311800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr21:28291400-28299400	Weak transcription	NHLF	lung
4	chr21:28291600-28312200	Strong transcription	HSMM	muscle
5	chr21:28292800-28298400	Weak transcription	Pancreas	Pancrea
6	chr21:28293000-28298000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr21:28293000-28334800	Weak transcription	Hela-S3	cervix
8	chr21:28293800-28298200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr21:28293800-28303600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr21:28294600-28305800	Weak transcription	Small Intestine	intestine
11	chr21:28294600-28318000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr21:28294600-28318200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr21:28294800-28298000	Weak transcription	Placenta	Placenta
14	chr21:28294800-28307200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:28295000-28303600	Weak transcription	Fetal Intestine Small	intestine
16	chr21:28295200-28306600	Strong transcription	Osteobl	bone
17	chr21:28295200-28310000	Strong transcription	Adipose Nuclei	Adipose
18	chr21:28295400-28300400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr21:28295400-28318200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr21:28295600-28300600	Strong transcription	Fetal Muscle Trunk	muscle
21	chr21:28295800-28298000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr21:28295800-28300400	Strong transcription	Fetal Muscle Leg	muscle
23	chr21:28296000-28298000	Strong transcription	Ovary	ovary
24	chr21:28296200-28307800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr21:28296600-28300400	Strong transcription	HSMMtube	muscle
26	chr21:28296600-28302200	Weak transcription	Esophagus	oesophagus
27	chr21:28296600-28315400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr21:28296800-28298400	Weak transcription	Fetal Stomach	stomach
29	chr21:28296800-28304000	Weak transcription	Fetal Intestine Large	intestine
30	chr21:28296800-28304200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr21:28296800-28305000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr21:28296800-28307400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr21:28296800-28308200	Weak transcription	Fetal Lung	lung
34	chr21:28296800-28318200	Weak transcription	Left Ventricle	heart
35	chr21:28297000-28299200	Weak transcription	Fetal Kidney	kidney
36	chr21:28297000-28299400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr21:28297000-28299400	Weak transcription	NHDF-Ad	bronchial
38	chr21:28297000-28299600	Weak transcription	Spleen	Spleen
39	chr21:28297000-28311800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr21:28297200-28298600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr21:28297200-28298600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr21:28297200-28298600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr21:28297400-28298600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr21:28297600-28298200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr21:28297600-28298400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr21:28297800-28298200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr21:28297800-28298600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr21:28297800-28298800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr21:28297800-28299200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr21:28297800-28308200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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