Variant report

Variant	rs7275931
Chromosome Location	chr21:46496288-46496289
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 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	RFX5	chr21:46495384-46496715	Hela-S3	cervix:	n/a	n/a
3	USF2	chr21:46496172-46496623	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr21:46492353-46497285	IMR90	lung:	n/a	n/a
5	GTF2F1	chr21:46496258-46496576	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr21:46496091-46496592	Hela-S3	cervix:	n/a	n/a
7	MAFF	chr21:46496196-46496604	K562	blood:	n/a	n/a
8	BRCA1	chr21:46496269-46496689	Hela-S3	cervix:	n/a	n/a
9	MXI1	chr21:46496261-46496647	Hela-S3	cervix:	n/a	n/a
10	SMC3	chr21:46496049-46496624	Hela-S3	cervix:	n/a	n/a
11	CUX1	chr21:46496274-46496652	K562	blood:	n/a	chr21:46496461-46496470
12	CHD2	chr21:46496162-46496541	Hela-S3	cervix:	n/a	n/a
13	TBP	chr21:46495519-46496749	Hela-S3	cervix:	n/a	n/a
14	CHD1	chr21:46493137-46497321	IMR90	lung:	n/a	n/a
15	POLR2A	chr21:46496218-46496518	Hela-S3	cervix:	n/a	n/a
16	MAFK	chr21:46496083-46496646	Hela-S3	cervix:	n/a	chr21:46496479-46496494 chr21:46496480-46496491
17	KAP1	chr21:46495094-46496570	HEK293	kidney:	n/a	n/a
18	MAX	chr21:46496130-46496611	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr21:46496090-46496483	Hela-S3	cervix:	n/a	n/a
20	RCOR1	chr21:46496229-46496597	Hela-S3	cervix:	n/a	n/a

No data

(count:35 , 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	chr21:46355061..46362857-chr21:46490375..46496482,13	K562	blood:
13	chr21:46493210..46496355-chr21:46960101..46962644,7	K562	blood:
14	chr21:46494805..46496748-chr21:46849949..46852672,3	K562	blood:
15	chr21:46494831..46496533-chr21:46576092..46578670,2	K562	blood:
16	chr21:46492507..46498258-chr21:46706665..46711571,8	K562	blood:
17	chr21:46420509..46434696-chr21:46492036..46497081,20	K562	blood:
18	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:
19	chr21:46387463..46395588-chr21:46492597..46498092,12	K562	blood:
20	chr21:46495879..46498410-chr21:46645680..46647627,2	K562	blood:
21	chr21:46492924..46497122-chr21:46547379..46551295,4	MCF-7	breast:
22	chr21:46495410..46497788-chr21:46536429..46538983,2	K562	blood:
23	chr21:46390745..46393297-chr21:46494598..46497120,2	MCF-7	breast:
24	chr21:46494890..46496733-chr21:46901945..46904600,2	K562	blood:
25	chr21:46422255..46425486-chr21:46493644..46496852,6	K562	blood:
26	chr21:46494846..46497722-chr21:46974690..46977147,2	K562	blood:
27	chr21:46494313..46497302-chr21:46514232..46516454,3	MCF-7	breast:
28	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:
29	chr21:46348334..46352514-chr21:46492914..46497675,5	K562	blood:
30	chr21:46495351..46497648-chr21:46516468..46519256,2	MCF-7	breast:
31	chr21:46491911..46497737-chr21:46547142..46552694,13	K562	blood:
32	chr21:46413441..46419649-chr21:46493522..46496485,6	K562	blood:
33	chr21:46493052..46496413-chr21:46547928..46550318,5	MCF-7	breast:
34	chr21:46493097..46497182-chr21:46538705..46543454,4	MCF-7	breast:
35	chr21:46493459..46496695-chr21:46925543..46928917,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268856	TF binding region
SSR4P1	TF binding region
ENSG00000160255	Chromatin interaction
ENSG00000182871	Chromatin interaction
ENSG00000215447	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000186866	Chromatin interaction
ENSG00000173638	Chromatin interaction
ENSG00000272825	Chromatin interaction
ENSG00000261706	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000268805	Chromatin interaction
ENSG00000224930	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000234880	Chromatin interaction
ENSG00000184900	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12482868	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12482952	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12482954	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12483020	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12483115	0.82[ASN][1000 genomes]
rs12483279	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12483312	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12483758	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1556316	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17004734	0.93[ASN][1000 genomes]
rs17004739	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838774	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838776	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838786	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838789	0.86[ASN][1000 genomes]
rs3178603	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs367228	0.95[ASN][1000 genomes]
rs3746976	0.91[EUR][1000 genomes]
rs3788154	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3788155	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3788156	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3788163	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs386528	0.82[ASN][1000 genomes]
rs406551	0.81[ASN][1000 genomes]
rs421643	0.82[ASN][1000 genomes]
rs423726	0.82[ASN][1000 genomes]
rs428870	0.81[ASN][1000 genomes]
rs431529	0.82[ASN][1000 genomes]
rs431666	0.82[ASN][1000 genomes]
rs431775	0.82[ASN][1000 genomes]
rs439884	0.82[ASN][1000 genomes]
rs442380	0.82[ASN][1000 genomes]
rs447656	0.82[ASN][1000 genomes]
rs7275205	0.92[ASN][1000 genomes]
rs7281718	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7283619	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs731248	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8127577	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8129934	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8132454	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8132752	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8134889	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs870145	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs870350	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs870351	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

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	chr21:46495200-46496400	Flanking Active TSS	Primary B cells from peripheral blood	blood
6	chr21:46495200-46496400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr21:46495200-46496400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr21:46495200-46496600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr21:46495200-46496600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:46495200-46496600	Flanking Active TSS	K562	blood
11	chr21:46495400-46496400	Flanking Active TSS	HepG2	liver
12	chr21:46495400-46496600	Flanking Active TSS	HUVEC	blood vessel
13	chr21:46495400-46496600	Flanking Active TSS	NHEK	skin
14	chr21:46495400-46496600	Flanking Active TSS	Osteobl	bone
15	chr21:46495400-46497000	Enhancers	Fetal Heart	heart
16	chr21:46495400-46497200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr21:46495600-46496400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr21:46495600-46496400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr21:46495600-46496400	Active TSS	Lung	lung
20	chr21:46495600-46496400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
21	chr21:46495600-46496400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
22	chr21:46495600-46496400	Enhancers	Small Intestine	intestine
23	chr21:46495600-46496400	Enhancers	Spleen	Spleen
24	chr21:46495600-46496600	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr21:46495600-46496600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr21:46495600-46496800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr21:46495600-46497000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr21:46495600-46497000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr21:46495600-46500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr21:46495600-46501400	Weak transcription	Gastric	stomach
31	chr21:46495800-46496400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr21:46495800-46496400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr21:46495800-46496400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr21:46495800-46496400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr21:46495800-46496400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
36	chr21:46495800-46496400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr21:46495800-46496400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr21:46495800-46496400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
39	chr21:46495800-46496400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr21:46495800-46496400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr21:46495800-46496600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr21:46495800-46496600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr21:46495800-46496600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
44	chr21:46495800-46496600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr21:46495800-46496600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr21:46495800-46496600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr21:46495800-46496600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr21:46495800-46496600	Flanking Active TSS	Dnd41	blood
49	chr21:46495800-46496600	Active TSS	NHLF	lung
50	chr21:46495800-46496800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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