Variant report

Variant	rs2298693
Chromosome Location	chr21:47650192-47650193
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:47650121-47657023	K562	blood:	n/a	n/a
2	MAFK	chr21:47649669-47650355	K562	blood:	n/a	n/a
3	POLR2A	chr21:47649066-47650405	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr21:47650157-47650798	K562	blood:	n/a	n/a
5	POLR2A	chr21:47649080-47651026	GM12891	blood:	n/a	n/a
6	POLR2A	chr21:47647784-47650745	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr21:47649092-47650889	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr21:47650149-47650460	GM12878	blood:	n/a	n/a
9	POLR2A	chr21:47650191-47650674	U87	brain:	n/a	n/a
10	POLR2A	chr21:47650047-47650227	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr21:47650105-47650370	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr21:47648179-47650588	HepG2	liver:	n/a	n/a
13	FOS	chr21:47650177-47650529	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr21:47649055-47650680	U87	brain:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47637510..47639750-chr21:47649696..47652340,2	K562	blood:
2	chr21:47649909..47652487-chr21:47692841..47694788,2	K562	blood:
3	chr21:47633762..47640190-chr21:47646866..47650293,7	MCF-7	breast:
4	chr21:47645527..47650637-chr21:47703398..47707562,6	MCF-7	breast:
5	chr21:47639961..47644801-chr21:47645631..47650469,7	K562	blood:
6	chr21:47646929..47655402-chr21:47657205..47667464,13	MCF-7	breast:
7	chr21:47647621..47651234-chr21:47875652..47881416,7	K562	blood:
8	chr21:47647133..47651621-chr21:47740452..47747290,19	K562	blood:
9	chr21:47645020..47650682-chr21:47742361..47746485,6	MCF-7	breast:
10	chr21:47647264..47651365-chr21:47875652..47880068,5	K562	blood:
11	chr21:47647133..47651941-chr21:47742263..47745700,6	K562	blood:
12	chr21:47569776..47574608-chr21:47647325..47651354,5	K562	blood:
13	chr21:47648918..47651856-chr21:47704004..47707195,4	K562	blood:
14	chr21:47648381..47651139-chr21:47684651..47687035,3	MCF-7	breast:
15	chr21:47602595..47605401-chr21:47649000..47651929,3	K562	blood:
16	chr21:47647592..47650436-chr21:47705418..47707523,3	K562	blood:
17	chr21:47649475..47654213-chr21:47668159..47671239,4	MCF-7	breast:
18	chr21:47646765..47648918-chr21:47650185..47652427,3	MCF-7	breast:
19	chr21:47647765..47652638-chr21:47704055..47705991,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YBEY-2	chr21:47649438-47650441	ENSG00000215424

No data

Variant related genes	Relation type
LSS	TF binding region
ENSG00000182362	Chromatin interaction
ENSG00000160305	Chromatin interaction
ENSG00000160285	Chromatin interaction
ENSG00000228404	Chromatin interaction
ENSG00000160299	Chromatin interaction
ENSG00000160294	Chromatin interaction
ENSG00000228137	Chromatin interaction
ENSG00000237338	Chromatin interaction
ENSG00000160298	Chromatin interaction
ENSG00000223901	Chromatin interaction
ENSG00000160284	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17176940	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17182531	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17182753	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17182990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17183213	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17183382	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17183438	1.00[EUR][1000 genomes]
rs28801979	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55774624	0.83[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	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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv914101	chr21:47491014-47650362	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a
16	nsv914116	chr21:47535248-47650362	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	esv3322089	chr21:47647549-47650497	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
26	esv3377874	chr21:47647774-47650272	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr21:47647000-47650200	Active TSS	Fetal Kidney	kidney
2	chr21:47647000-47650400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr21:47647600-47650200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr21:47647800-47650200	Active TSS	A549	lung
5	chr21:47648000-47650200	Active TSS	Stomach Smooth Muscle	stomach
6	chr21:47649200-47650200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr21:47649400-47650200	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr21:47649400-47650200	Flanking Active TSS	Dnd41	blood
9	chr21:47649400-47650400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:47649400-47650400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr21:47649400-47650400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr21:47649400-47650600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr21:47649600-47650200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr21:47649600-47650200	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr21:47649600-47650200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr21:47649600-47650200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr21:47649600-47650200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:47649600-47650200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr21:47649600-47650200	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr21:47649600-47650200	Flanking Active TSS	GM12878-XiMat	blood
21	chr21:47649600-47650200	Flanking Active TSS	HUVEC	blood vessel
22	chr21:47649600-47650200	Flanking Active TSS	NHLF	lung
23	chr21:47649600-47650400	Flanking Active TSS	Fetal Brain Female	brain
24	chr21:47649600-47650400	Enhancers	Stomach Mucosa	stomach
25	chr21:47649600-47650400	Flanking Active TSS	Hela-S3	cervix
26	chr21:47649600-47650600	Flanking Active TSS	HMEC	breast
27	chr21:47649600-47650600	Flanking Active TSS	NHEK	skin
28	chr21:47649800-47650200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr21:47649800-47650200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr21:47649800-47650200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
31	chr21:47649800-47650200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr21:47649800-47650200	Enhancers	Primary B cells from peripheral blood	blood
33	chr21:47649800-47650200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr21:47649800-47650200	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr21:47649800-47650200	Enhancers	Fetal Intestine Large	intestine
36	chr21:47649800-47650200	Enhancers	Fetal Lung	lung
37	chr21:47649800-47650200	Flanking Active TSS	K562	blood
38	chr21:47649800-47650400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr21:47649800-47650400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr21:47649800-47650400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr21:47649800-47650400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr21:47649800-47650600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:47649800-47650600	Flanking Active TSS	HepG2	liver
44	chr21:47649800-47650800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
45	chr21:47649800-47650800	Enhancers	Liver	Liver
46	chr21:47649800-47651000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:47649800-47652000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr21:47649800-47652400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
49	chr21:47649800-47652800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr21:47649800-47653200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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