Variant report

Variant	rs17183262
Chromosome Location	chr21:47664634-47664635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:47658656-47667213	K562	blood:	n/a	n/a
2	POLR2A	chr21:47664388-47664961	K562	blood:	n/a	n/a
3	POLR2A	chr21:47663686-47665698	K562	blood:	n/a	n/a
4	POLR2A	chr21:47663086-47665777	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr21:47662937-47665084	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr21:47664255-47664734	GM12878	blood:	n/a	n/a
7	POLR2A	chr21:47663346-47664657	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr21:47663343-47664670	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr21:47662913-47665423	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr21:47662457-47665424	K562	blood:	n/a	n/a
11	POLR2A	chr21:47664400-47664787	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr21:47662918-47664881	GM12878	blood:	n/a	n/a
13	POLR2A	chr21:47664359-47664802	HepG2	liver:	n/a	n/a
14	POLR2A	chr21:47664059-47664715	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr21:47662967-47665071	K562	blood:	n/a	n/a
16	POLR2A	chr21:47663186-47665012	HepG2	liver:	n/a	n/a
17	POLR2A	chr21:47662956-47665098	K562	blood:	n/a	n/a
18	POLR2A	chr21:47662410-47665538	K562	blood:	n/a	n/a
19	POLR2A	chr21:47663134-47664986	K562	blood:	n/a	n/a
20	POLR2A	chr21:47662437-47664792	GM12891	blood:	n/a	n/a
21	POLR2A	chr21:47663290-47664950	HL-60	blood:	n/a	n/a
22	POLR2A	chr21:47664570-47664750	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr21:47663271-47665732	K562	blood:	n/a	n/a
24	POLR2A	chr21:47664198-47664770	GM12878	blood:	n/a	n/a
25	POLR2A	chr21:47663254-47665192	MCF-7	breast:	n/a	n/a
26	POLR2A	chr21:47664348-47664685	HepG2	liver:	n/a	n/a
27	POLR2A	chr21:47662928-47665350	K562	blood:	n/a	n/a
28	POLR2A	chr21:47664129-47664880	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47659502..47662690-chr21:47662818..47666456,4	MCF-7	breast:
2	chr21:47646929..47655402-chr21:47657205..47667464,13	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YBEY-2	chr21:47664465-47664779	ENSG00000215424.5

No data

Variant related genes	Relation type
ENSG00000228137	TF binding region
ENSG00000160285	Chromatin interaction
ENSG00000215424	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16979001	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16979006	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16979014	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17176170	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17176352	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17182573	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17182643	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17183017	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17183081	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17183283	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28560443	0.81[EUR][1000 genomes]
rs35785446	0.86[EUR][1000 genomes]
rs56381116	0.85[AMR][1000 genomes]
rs60322177	1.00[EUR][1000 genomes]
rs73386515	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73386563	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8127105	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs9975914	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv1060978	chr21:47488073-47833640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	n/a
14	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
15	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
16	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
17	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
18	nsv933354	chr21:47609029-47851401	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
19	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
20	nsv914134	chr21:47632995-47712185	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	n/a
21	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
22	nsv587975	chr21:47661235-47830843	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47649800-47701600	Weak transcription	Right Atrium	heart
2	chr21:47650000-47705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:47650200-47667000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:47650600-47669800	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr21:47650800-47701000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr21:47650800-47701400	Strong transcription	Fetal Muscle Leg	muscle
7	chr21:47650800-47701600	Strong transcription	Fetal Stomach	stomach
8	chr21:47651000-47703200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:47651200-47701400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:47651600-47670400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:47651600-47673000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:47651600-47679000	Strong transcription	HSMM	muscle
13	chr21:47651600-47703000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:47651600-47703200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr21:47651800-47666800	Strong transcription	Fetal Lung	lung
16	chr21:47651800-47681000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:47651800-47701400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:47651800-47702600	Strong transcription	Osteobl	bone
19	chr21:47652000-47668000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr21:47652000-47701000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr21:47652000-47703000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr21:47652200-47701600	Strong transcription	Fetal Thymus	thymus
23	chr21:47652400-47685200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr21:47652400-47702000	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr21:47652800-47668200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr21:47652800-47674600	Strong transcription	Adipose Nuclei	Adipose
27	chr21:47652800-47678000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr21:47652800-47702200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr21:47653000-47701600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr21:47653200-47668000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr21:47653200-47696000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr21:47653200-47702000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr21:47653400-47686000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr21:47653600-47670400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr21:47653600-47701800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr21:47653600-47702400	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr21:47654200-47670200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr21:47658000-47668200	Strong transcription	HMEC	breast
39	chr21:47658200-47667200	Strong transcription	Spleen	Spleen
40	chr21:47658200-47669800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr21:47658200-47670600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr21:47658200-47671800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr21:47658200-47681400	Strong transcription	Brain Hippocampus Middle	brain
44	chr21:47658200-47702200	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr21:47658400-47666600	Strong transcription	Gastric	stomach
46	chr21:47658400-47670200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr21:47658400-47670200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr21:47658400-47670600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr21:47658400-47671600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr21:47658400-47673800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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