Variant report

Variant	rs9653782
Chromosome Location	chr21:45617167-45617168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr21:45617058-45617258	K562	blood:	n/a	n/a
2	JUN	chr21:45615817-45617579	K562	blood:	n/a	n/a
3	BHLHE40	chr21:45617016-45617223	K562	blood:	n/a	n/a
4	CTCF	chr21:45617145-45617205	K562	blood:	n/a	n/a
5	HMGN3	chr21:45617133-45617338	K562	blood:	n/a	n/a
6	POLR2A	chr21:45615624-45617413	HL-60	blood:	n/a	n/a
7	MAX	chr21:45616966-45617344	K562	blood:	n/a	n/a
8	RCOR1	chr21:45617038-45617305	K562	blood:	n/a	n/a
9	CTCF	chr21:45617161-45617174	K562	blood:	n/a	n/a
10	POLR2A	chr21:45617098-45617219	MCF-7	breast:	n/a	n/a
11	ATF1	chr21:45616087-45617176	K562	blood:	n/a	n/a
12	UBTF	chr21:45617012-45617211	K562	blood:	n/a	n/a
13	UBTF	chr21:45617003-45617368	K562	blood:	n/a	n/a
14	JUND	chr21:45616969-45617230	K562	blood:	n/a	n/a
15	EP300	chr21:45616094-45617221	K562	blood:	n/a	chr21:45616102-45616118 chr21:45616257-45616271
16	POLR2A	chr21:45615517-45617531	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45565762..45568425-chr21:45616246..45618901,2	MCF-7	breast:
2	chr21:45557116..45559735-chr21:45615528..45618206,3	MCF-7	breast:
3	chr21:45616221..45617876-chr21:45625272..45628231,2	K562	blood:
4	chr21:45615502..45617869-chr21:45667459..45670293,2	K562	blood:
5	chr21:45610715..45617377-chr21:45717031..45721978,7	MCF-7	breast:
6	chr21:45568616..45570755-chr21:45615083..45617675,2	K562	blood:
7	chr21:45615189..45618434-chr21:45625221..45628569,5	MCF-7	breast:
8	chr21:45614676..45619255-chr21:45657692..45665676,14	MCF-7	breast:
9	chr21:45612993..45620081-chr21:45620303..45625017,17	MCF-7	breast:
10	chr21:45567927..45569479-chr21:45614833..45617390,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232124	TF binding region
ENSG00000232124	Chromatin interaction
ENSG00000232698	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000141959	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2838465	1.00[EUR][1000 genomes]
rs45493992	1.00[EUR][1000 genomes]
rs61737085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73374050	1.00[EUR][1000 genomes]
rs9975520	1.00[EUR][1000 genomes]
rs9979908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
12	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
13	nsv1065479	chr21:45571324-45617878	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv913900	chr21:45577102-45640139	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	esv3411301	chr21:45609579-45620771	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	esv3455479	chr21:45609616-45620726	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv3455480	chr21:45609633-45620722	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv913901	chr21:45615741-45665330	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
19	nsv913902	chr21:45615741-45709153	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45610800-45617600	Enhancers	Placenta	Placenta
2	chr21:45612200-45617200	Enhancers	Fetal Muscle Leg	muscle
3	chr21:45612800-45617400	Enhancers	Primary hematopoietic stem cells	blood
4	chr21:45613600-45617200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:45613600-45617400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr21:45613600-45617400	Enhancers	Primary B cells from peripheral blood	blood
7	chr21:45614000-45617200	Enhancers	GM12878-XiMat	blood
8	chr21:45614000-45617600	Enhancers	Primary B cells from cord blood	blood
9	chr21:45614400-45617400	Weak transcription	Brain Angular Gyrus	brain
10	chr21:45614800-45622400	Weak transcription	Pancreas	Pancrea
11	chr21:45615000-45617200	Weak transcription	Colonic Mucosa	Colon
12	chr21:45615000-45623200	Weak transcription	Brain Hippocampus Middle	brain
13	chr21:45615400-45622200	Weak transcription	Fetal Lung	lung
14	chr21:45615600-45617200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr21:45615600-45617200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr21:45615600-45617400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr21:45615600-45617800	Enhancers	Fetal Thymus	thymus
18	chr21:45615800-45617200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr21:45615800-45617400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr21:45615800-45617400	Enhancers	Brain Substantia Nigra	brain
21	chr21:45615800-45617600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr21:45615800-45617800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:45616000-45617200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr21:45616000-45617600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr21:45616000-45618000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr21:45616000-45618000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr21:45616200-45617200	Enhancers	Gastric	stomach
28	chr21:45616200-45617200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
29	chr21:45616200-45617600	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr21:45616400-45617200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:45616400-45617400	Enhancers	Right Atrium	heart
32	chr21:45616600-45617400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr21:45616600-45617400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr21:45616600-45617600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:45616600-45619400	Weak transcription	Stomach Mucosa	stomach
36	chr21:45616600-45622000	Weak transcription	Lung	lung
37	chr21:45616600-45622200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr21:45616600-45622200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr21:45616800-45617200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr21:45616800-45617400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:45616800-45617400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
42	chr21:45616800-45617600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr21:45616800-45617600	Enhancers	K562	blood
44	chr21:45616800-45621600	Weak transcription	Esophagus	oesophagus
45	chr21:45616800-45622000	Weak transcription	Left Ventricle	heart
46	chr21:45616800-45622200	Weak transcription	Fetal Intestine Small	intestine
47	chr21:45616800-45622200	Weak transcription	Spleen	Spleen
48	chr21:45616800-45626600	Weak transcription	Thymus	Thymus
49	chr21:45617000-45617400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
50	chr21:45617000-45617600	Enhancers	Right Ventricle	heart

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