Variant report

Variant	rs57227186
Chromosome Location	chr21:47935746-47935747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47919811..47922466-chr21:47933322..47936721,3	K562	blood:
2	chr21:47920966..47922800-chr21:47934411..47936721,2	K562	blood:
3	chr21:47928285..47929817-chr21:47933834..47936196,2	MCF-7	breast:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10483082	1.00[ASN][1000 genomes]
rs11909415	1.00[ASN][1000 genomes]
rs11909799	0.82[EUR][1000 genomes]
rs11910459	1.00[ASN][1000 genomes]
rs11910912	1.00[ASN][1000 genomes]
rs11911797	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12106325	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16979185	0.88[EUR][1000 genomes]
rs16979206	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16979207	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16979333	1.00[ASN][1000 genomes]
rs2096506	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839214	1.00[ASN][1000 genomes]
rs2839216	1.00[ASN][1000 genomes]
rs2839221	1.00[ASN][1000 genomes]
rs2839307	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28583333	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28802698	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28803288	1.00[ASN][1000 genomes]
rs28856972	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28888425	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35945564	1.00[ASN][1000 genomes]
rs55742016	0.88[EUR][1000 genomes]
rs56077060	1.00[ASN][1000 genomes]
rs57108405	0.88[EUR][1000 genomes]
rs57134378	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57819744	0.88[EUR][1000 genomes]
rs57936960	1.00[ASN][1000 genomes]
rs58228841	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58468580	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58572600	0.88[EUR][1000 genomes]
rs58960215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59691259	1.00[ASN][1000 genomes]
rs60091558	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60446383	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60455426	1.00[ASN][1000 genomes]
rs61013937	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61160919	1.00[ASN][1000 genomes]
rs61407822	1.00[ASN][1000 genomes]
rs61485237	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61735543	0.82[EUR][1000 genomes]
rs61735812	0.82[EUR][1000 genomes]
rs6518290	1.00[ASN][1000 genomes]
rs7282858	1.00[ASN][1000 genomes]
rs73372056	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73372067	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73372085	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73373860	1.00[ASN][1000 genomes]
rs73373920	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73379336	1.00[ASN][1000 genomes]
rs73379382	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73381173	0.82[EUR][1000 genomes]
rs73381193	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73381196	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383320	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383347	1.00[ASN][1000 genomes]
rs73907470	1.00[ASN][1000 genomes]
rs73907473	1.00[ASN][1000 genomes]
rs73907474	1.00[ASN][1000 genomes]
rs8129476	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8132727	1.00[ASN][1000 genomes]
rs8133340	1.00[ASN][1000 genomes]
rs881923	1.00[ASN][1000 genomes]
rs9941876	1.00[ASN][1000 genomes]
rs9941895	1.00[ASN][1000 genomes]
rs9974760	1.00[ASN][1000 genomes]
rs9975723	1.00[ASN][1000 genomes]
rs9975751	1.00[ASN][1000 genomes]
rs9976401	1.00[ASN][1000 genomes]
rs9979271	1.00[ASN][1000 genomes]
rs9981125	1.00[ASN][1000 genomes]
rs9982112	1.00[ASN][1000 genomes]
rs9982810	1.00[ASN][1000 genomes]
rs9983644	1.00[ASN][1000 genomes]
rs9984735	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
2	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
3	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
4	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
5	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
6	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
7	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
8	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
9	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
10	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
11	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
12	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
13	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS 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 target site	82 gene(s)	inside rSNPs	n/a
14	nsv933061	chr21:47746204-48031515	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
15	nsv1062858	chr21:47750884-48091343	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS 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 target site	56 gene(s)	inside rSNPs	n/a
16	nsv1056321	chr21:47835146-47973412	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
17	nsv917208	chr21:47836346-47988603	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
18	nsv1058397	chr21:47851176-48091343	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
19	nsv459312	chr21:47856106-47985655	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
20	nsv587998	chr21:47856106-47985655	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
21	nsv1065502	chr21:47865215-48091343	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
22	nsv1056152	chr21:47875370-47979259	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
23	nsv1061442	chr21:47875370-48091343	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
24	nsv1059466	chr21:47894705-48096945	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	n/a
25	nsv1061185	chr21:47901250-48096945	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	n/a
26	nsv1057566	chr21:47915583-48029698	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47927400-47950000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:47928800-47936000	Strong transcription	Placenta	Placenta
3	chr21:47929000-47936400	Strong transcription	Dnd41	blood
4	chr21:47930000-47935800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:47931800-47953600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr21:47932000-47953400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr21:47932000-47961400	Weak transcription	Fetal Brain Male	brain
8	chr21:47932200-47937600	Weak transcription	Ovary	ovary
9	chr21:47932200-47954000	Weak transcription	A549	lung
10	chr21:47932400-47937200	Weak transcription	HSMM	muscle
11	chr21:47932400-47937400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr21:47932400-47937400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr21:47932400-47937400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr21:47932400-47937400	Weak transcription	Right Ventricle	heart
15	chr21:47932400-47937400	Weak transcription	Hela-S3	cervix
16	chr21:47932400-47947000	Weak transcription	NHDF-Ad	bronchial
17	chr21:47932400-47947600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:47932400-47947600	Weak transcription	Esophagus	oesophagus
19	chr21:47932400-47950000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr21:47932400-47952000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr21:47932400-47952000	Weak transcription	HSMMtube	muscle
22	chr21:47932400-47954400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr21:47932400-47957400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr21:47932600-47952000	Weak transcription	NHLF	lung
25	chr21:47932600-47953400	Weak transcription	Colonic Mucosa	Colon
26	chr21:47932800-47937000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr21:47932800-47937200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr21:47932800-47937400	Weak transcription	Aorta	Aorta
29	chr21:47932800-47937400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr21:47932800-47937800	Weak transcription	Osteobl	bone
31	chr21:47932800-47948800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr21:47933000-47937200	Weak transcription	Left Ventricle	heart
33	chr21:47933000-47937400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr21:47933000-47937600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr21:47933000-47937800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr21:47933000-47937800	Weak transcription	HMEC	breast
37	chr21:47933000-47967200	Weak transcription	Fetal Kidney	kidney
38	chr21:47933200-47937400	Weak transcription	HepG2	liver
39	chr21:47933400-47937000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr21:47933400-47937400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr21:47933400-47937400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr21:47933400-47937400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr21:47933400-47950600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr21:47933600-47949600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr21:47933600-47953400	Weak transcription	Psoas Muscle	Psoas
46	chr21:47933800-47937400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr21:47933800-47952000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr21:47934000-47935800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr21:47934200-47940400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr21:47934400-47935800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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