Variant report

Variant	rs564981020
Chromosome Location	chr21:46496542-46496543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:61)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr21:46496207-46496588	K562	blood:	n/a	chr21:46496329-46496340
2	EP300	chr21:46496355-46496817	Hela-S3	cervix:	n/a	chr21:46496486-46496493 chr21:46496605-46496619
3	RFX5	chr21:46495384-46496715	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr21:46496291-46496640	Hela-S3	cervix:	n/a	n/a
5	USF2	chr21:46496172-46496623	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr21:46492353-46497285	IMR90	lung:	n/a	n/a
7	GTF2F1	chr21:46496258-46496576	Hela-S3	cervix:	n/a	n/a
8	TBL1XR1	chr21:46496315-46496619	K562	blood:	n/a	n/a
9	POLR2A	chr21:46496091-46496592	Hela-S3	cervix:	n/a	n/a
10	MAFF	chr21:46496196-46496604	K562	blood:	n/a	n/a
11	ATF1	chr21:46496349-46496860	K562	blood:	n/a	n/a
12	BRCA1	chr21:46496269-46496689	Hela-S3	cervix:	n/a	n/a
13	RCOR1	chr21:46496310-46496595	K562	blood:	n/a	n/a
14	SPI1	chr21:46496453-46496713	GM12878	blood:	n/a	chr21:46496605-46496614
15	MXI1	chr21:46496261-46496647	Hela-S3	cervix:	n/a	n/a
16	SMC3	chr21:46496049-46496624	Hela-S3	cervix:	n/a	n/a
17	CUX1	chr21:46496274-46496652	K562	blood:	n/a	chr21:46496461-46496470
18	MTA3	chr21:46496305-46496659	GM12878	blood:	n/a	n/a
19	TBP	chr21:46495519-46496749	Hela-S3	cervix:	n/a	n/a
20	CHD1	chr21:46493137-46497321	IMR90	lung:	n/a	n/a
21	MAFK	chr21:46496083-46496646	Hela-S3	cervix:	n/a	chr21:46496479-46496494 chr21:46496480-46496491
22	KAP1	chr21:46495094-46496570	HEK293	kidney:	n/a	n/a
23	MAX	chr21:46496130-46496611	Hela-S3	cervix:	n/a	n/a
24	SPI1	chr21:46496404-46496659	GM12891	blood:	n/a	chr21:46496605-46496614
25	MAFK	chr21:46496394-46496576	HepG2	liver:	n/a	chr21:46496479-46496494 chr21:46496480-46496491
26	RCOR1	chr21:46496229-46496597	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46496510-46496560	K562	blood:	n/a
2	chr21:46496510-46496560	GM12891	blood:	n/a
3	chr21:46496510-46496560	AG09319	gingival:	n/a
4	chr21:46496510-46496560	GM12878	blood:	n/a
5	chr21:46496510-46496560	NT2-D1	testis:	n/a
6	chr21:46496510-46496560	LNCaP	prostate:	n/a
7	chr21:46496510-46496560	SK-N-MC	brain:	n/a
8	chr21:46496510-46496560	BJ	skin:	n/a
9	chr21:46496510-46496560	HNPCEpiC	eye:	n/a
10	chr21:46496510-46496560	HRCEpiC	kidney:	n/a
11	chr21:46496510-46496560	AG09309	skin:	n/a
12	chr21:46496510-46496560	HCPEpiC	choroid plexus:	n/a
13	chr21:46496510-46496560	Hepatocyte	liver:	n/a
14	chr21:46496510-46496560	MCF-7	breast:	n/a
15	chr21:46496510-46496560	SK-N-SH	brain:	n/a
16	chr21:46496510-46496560	H1-hESC	embryonic stem cell:	embryo
17	chr21:46496510-46496560	ovcar-3	ovarian:	n/a
18	chr21:46496510-46496560	HepG2	liver:	n/a
19	chr21:46496510-46496560	GM06990	blood:	n/a
20	chr21:46496510-46496560	AG10803	skin:	n/a
21	chr21:46496510-46496560	ECC-1	luminal epithelium:	n/a
22	chr21:46496510-46496560	HCM	heart:	n/a
23	chr21:46496510-46496560	BE2_C	brain:	n/a
24	chr21:46496510-46496560	MCF10A-Er-Src	breast:	n/a
25	chr21:46496510-46496560	PANC-1	pancreas:	n/a
26	chr21:46496510-46496560	IMR90	lung:	fetal
27	chr21:46496510-46496560	NHDF-neo	bronchial:	n/a
28	chr21:46496510-46496560	A549	lung:	n/a
29	chr21:46496510-46496560	NHBE	bronchial:	n/a
30	chr21:46496510-46496560	NH-A	brain:	n/a
31	chr21:46496510-46496560	AG04450	lung:	fetal
32	chr21:46496510-46496560	HRPEpiC	eye:	n/a
33	chr21:46496510-46496560	GM19239	blood:	n/a
34	chr21:46496510-46496560	Hela-S3	cervix:	n/a
35	chr21:46496510-46496560	HEEpiC	esophagus:	n/a
36	chr21:46496510-46496560	HCF	heart:	n/a
37	chr21:46496510-46496560	HUVEC	blood vessel:	n/a
38	chr21:46496510-46496560	RPTEC	kidney:	n/a
39	chr21:46496510-46496560	AG04449	skin:	fetal
40	chr21:46496510-46496560	NB4	blood:	n/a
41	chr21:46496510-46496560	T-47D	breast:	n/a
42	chr21:46496510-46496560	GM12892	blood:	n/a
43	chr21:46496510-46496560	HAEpiC	amniotic membrane:	n/a
44	chr21:46496510-46496560	PrEC	prostate:	n/a
45	chr21:46496510-46496560	PFSK-1	brain:	n/a
46	chr21:46496510-46496560	HMEC	breast:	n/a
47	chr21:46496510-46496560	SK-N-SH_RA	brain:	n/a
48	chr21:46496510-46496560	SAEC	small airway:	n/a
49	chr21:46496510-46496560	U87	brain:	n/a
50	chr21:46496510-46496560	ProgFib	skin:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65663723..65666241-chr21:46495274..46498090,2	K562	blood:
2	chr21:46495151..46497006-chr21:46906877..46909626,2	K562	blood:
3	chr21:46494891..46496808-chr21:46543893..46546977,3	K562	blood:
4	chr21:46494888..46496545-chr21:46914062..46916067,2	K562	blood:
5	chr21:46231513..46241255-chr21:46492035..46497390,26	K562	blood:
6	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
7	chr21:46363747..46379047-chr21:46484156..46498795,67	K562	blood:
8	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
9	chr21:46220974..46223825-chr21:46494380..46498218,5	MCF-7	breast:
10	chr21:46231904..46241990-chr21:46492035..46500735,28	K562	blood:
11	chr21:46495902..46496885-chr21:46556392..46557286,2	K562	blood:
12	chr21:46494805..46496748-chr21:46849949..46852672,3	K562	blood:
13	chr21:46492507..46498258-chr21:46706665..46711571,8	K562	blood:
14	chr21:46420509..46434696-chr21:46492036..46497081,20	K562	blood:
15	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:
16	chr21:46387463..46395588-chr21:46492597..46498092,12	K562	blood:
17	chr21:46495879..46498410-chr21:46645680..46647627,2	K562	blood:
18	chr21:46492924..46497122-chr21:46547379..46551295,4	MCF-7	breast:
19	chr21:46495410..46497788-chr21:46536429..46538983,2	K562	blood:
20	chr21:46390745..46393297-chr21:46494598..46497120,2	MCF-7	breast:
21	chr21:46494890..46496733-chr21:46901945..46904600,2	K562	blood:
22	chr21:46422255..46425486-chr21:46493644..46496852,6	K562	blood:
23	chr21:46494846..46497722-chr21:46974690..46977147,2	K562	blood:
24	chr21:46494313..46497302-chr21:46514232..46516454,3	MCF-7	breast:
25	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:
26	chr21:46348334..46352514-chr21:46492914..46497675,5	K562	blood:
27	chr21:46495351..46497648-chr21:46516468..46519256,2	MCF-7	breast:
28	chr21:46491911..46497737-chr21:46547142..46552694,13	K562	blood:
29	chr21:46493097..46497182-chr21:46538705..46543454,4	MCF-7	breast:
30	chr21:46493459..46496695-chr21:46925543..46928917,3	K562	blood:

No data

Variant related genes	Relation type
SSR4P1	TF binding region
ENSG00000268856	TF binding region
SSR4P1	CpG island
ENSG00000268856	CpG island
ENSG00000272825	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000261706	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000215447	Chromatin interaction
ENSG00000186866	Chromatin interaction
ENSG00000234880	Chromatin interaction
ENSG00000224930	Chromatin interaction
ENSG00000182871	Chromatin interaction
ENSG00000268805	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000183250	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	esv3355416	chr21:46492024-46497122	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv3541	chr21:46496415-46536629	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46493600-46496600	Active TSS	HSMM	muscle
2	chr21:46493600-46496800	Active TSS	Aorta	Aorta
3	chr21:46495000-46496600	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr21:46495000-46496600	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr21:46495200-46496600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr21:46495200-46496600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:46495200-46496600	Flanking Active TSS	K562	blood
8	chr21:46495400-46496600	Flanking Active TSS	HUVEC	blood vessel
9	chr21:46495400-46496600	Flanking Active TSS	NHEK	skin
10	chr21:46495400-46496600	Flanking Active TSS	Osteobl	bone
11	chr21:46495400-46497000	Enhancers	Fetal Heart	heart
12	chr21:46495400-46497200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr21:46495600-46496600	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr21:46495600-46496600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr21:46495600-46496800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr21:46495600-46497000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:46495600-46497000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr21:46495600-46500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:46495600-46501400	Weak transcription	Gastric	stomach
20	chr21:46495800-46496600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:46495800-46496600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr21:46495800-46496600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr21:46495800-46496600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:46495800-46496600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:46495800-46496600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr21:46495800-46496600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr21:46495800-46496600	Flanking Active TSS	Dnd41	blood
28	chr21:46495800-46496600	Active TSS	NHLF	lung
29	chr21:46495800-46496800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr21:46495800-46496800	Enhancers	Placenta	Placenta
31	chr21:46495800-46497200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:46495800-46497200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr21:46495800-46497400	Weak transcription	A549	lung
34	chr21:46495800-46498400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr21:46495800-46498800	Weak transcription	NH-A	brain
36	chr21:46495800-46501400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr21:46495800-46502600	Weak transcription	Colonic Mucosa	Colon
38	chr21:46495800-46506000	Weak transcription	Pancreas	Pancrea
39	chr21:46496000-46496600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr21:46496000-46496800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr21:46496000-46497000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr21:46496000-46497000	Flanking Active TSS	Hela-S3	cervix
43	chr21:46496000-46497000	Flanking Active TSS	HMEC	breast
44	chr21:46496200-46496600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
45	chr21:46496200-46496600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
46	chr21:46496200-46496600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr21:46496200-46496600	Enhancers	Adipose Nuclei	Adipose
48	chr21:46496200-46496600	Enhancers	Brain Angular Gyrus	brain
49	chr21:46496200-46496600	Enhancers	Colon Smooth Muscle	Colon
50	chr21:46496200-46496600	Bivalent Enhancer	Fetal Brain Female	brain

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