Variant report

Variant	rs446403
Chromosome Location	chr21:47371141-47371142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47369271..47372181-chr21:47376875..47378914,2	MCF-7	breast:
2	chr21:47369464..47371619-chr21:47394987..47396620,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10222081	0.81[ASN][1000 genomes]
rs10470261	0.81[ASN][1000 genomes]
rs16978692	0.81[ASN][1000 genomes]
rs1736421	0.87[EUR][1000 genomes]
rs2776402	0.87[ASN][1000 genomes]
rs2839065	0.81[ASN][1000 genomes]
rs2839066	0.81[ASN][1000 genomes]
rs2839067	0.81[ASN][1000 genomes]
rs2839068	0.81[ASN][1000 genomes]
rs2839069	0.81[ASN][1000 genomes]
rs2839071	0.91[ASN][1000 genomes]
rs368033	0.87[EUR][1000 genomes]
rs368820	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs369416	0.90[EUR][1000 genomes]
rs372748	0.87[EUR][1000 genomes]
rs3746991	0.81[ASN][1000 genomes]
rs3788239	0.81[ASN][1000 genomes]
rs3788242	0.81[ASN][1000 genomes]
rs379493	0.87[ASN][1000 genomes]
rs379501	0.87[ASN][1000 genomes]
rs3827269	0.81[ASN][1000 genomes]
rs384068	0.87[EUR][1000 genomes]
rs387320	0.86[EUR][1000 genomes]
rs399595	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs401411	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs406179	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs408778	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs411390	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs421425	0.88[EUR][1000 genomes]
rs431162	0.87[EUR][1000 genomes]
rs438651	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs439180	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs439334	0.87[EUR][1000 genomes]
rs7276479	0.81[ASN][1000 genomes]
rs7276791	0.81[ASN][1000 genomes]
rs7277199	0.81[ASN][1000 genomes]
rs9306145	0.81[ASN][1000 genomes]
rs9975850	0.81[ASN][1000 genomes]
rs9977242	0.81[ASN][1000 genomes]
rs9983166	0.85[ASN][1000 genomes]
rs9983756	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
8	nsv428043	chr21:47179244-47471971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a
9	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
10	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
11	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
12	nsv914083	chr21:47265786-47453954	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
13	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
14	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
15	nsv914085	chr21:47342116-47433055	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
16	esv1848879	chr21:47343462-47455584	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
17	nsv914086	chr21:47352625-47445184	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
18	nsv914087	chr21:47352625-47453954	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
19	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
20	nsv914088	chr21:47358915-47419012	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47367400-47373000	Weak transcription	Right Atrium	heart
2	chr21:47369000-47373000	Weak transcription	Left Ventricle	heart
3	chr21:47369600-47371800	Enhancers	Ovary	ovary
4	chr21:47369800-47371200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:47369800-47371200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:47369800-47371600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr21:47369800-47372000	Enhancers	Brain Germinal Matrix	brain
8	chr21:47370000-47371400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
9	chr21:47370200-47371400	Enhancers	Rectal Smooth Muscle	rectum
10	chr21:47370200-47371400	Enhancers	NHDF-Ad	bronchial
11	chr21:47370200-47371800	Enhancers	Fetal Lung	lung
12	chr21:47370200-47372000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr21:47370200-47372200	Enhancers	Fetal Stomach	stomach
14	chr21:47370400-47371200	Enhancers	Fetal Kidney	kidney
15	chr21:47370400-47371400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr21:47370400-47371400	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr21:47370400-47371600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr21:47370600-47371200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr21:47370600-47371200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr21:47370600-47371400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr21:47370600-47371400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:47370600-47371400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr21:47370600-47371600	Enhancers	HMEC	breast
24	chr21:47370600-47375400	Enhancers	Fetal Muscle Leg	muscle
25	chr21:47370800-47371200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr21:47370800-47371200	Enhancers	Adipose Nuclei	Adipose
27	chr21:47370800-47371400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr21:47370800-47371400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr21:47370800-47371600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr21:47370800-47371600	Enhancers	HSMM	muscle
31	chr21:47370800-47371800	Enhancers	HSMMtube	muscle
32	chr21:47370800-47372200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr21:47370800-47379600	Weak transcription	Right Ventricle	heart
34	chr21:47371000-47371200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr21:47371000-47371200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr21:47371000-47371400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr21:47371000-47371400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
38	chr21:47371000-47371400	Bivalent Enhancer	NHEK	skin
39	chr21:47371000-47371600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr21:47371000-47371600	Enhancers	Colon Smooth Muscle	Colon
41	chr21:47371000-47372000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr21:47371000-47372400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr21:47371000-47372400	Weak transcription	NH-A	brain
44	chr21:47371000-47372800	Weak transcription	Aorta	Aorta
45	chr21:47371000-47373000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr21:47371000-47373600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr21:47371000-47374400	Enhancers	Placenta	Placenta

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