Variant report

Variant	rs73230658
Chromosome Location	chr21:46495567-46495568
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr21:46494944-46495569	Hela-S3	cervix:	n/a	n/a
2	MAX	chr21:46493074-46495782	MCF-7	breast:	n/a	n/a
3	POLR2A	chr21:46493084-46495667	K562	blood:	n/a	n/a
4	SIN3A	chr21:46494706-46495676	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr21:46493543-46495715	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr21:46493408-46495654	K562	blood:	n/a	n/a
7	RFX5	chr21:46495384-46496715	Hela-S3	cervix:	n/a	n/a
8	HEY1	chr21:46493480-46495777	K562	blood:	n/a	chr21:46494290-46494305 chr21:46494988-46495003 chr21:46494931-46494946 chr21:46494197-46494212 chr21:46495443-46495458 chr21:46494236-46494251 chr21:46494206-46494221
9	POLR2A	chr21:46494921-46495696	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr21:46492353-46497285	IMR90	lung:	n/a	n/a
11	MXI1	chr21:46494865-46495742	Hela-S3	cervix:	n/a	n/a
12	RCOR1	chr21:46494724-46495774	K562	blood:	n/a	n/a
13	MAZ	chr21:46492951-46495586	IMR90	lung:	n/a	n/a
14	POLR2A	chr21:46493064-46495631	K562	blood:	n/a	n/a
15	SMARCB1	chr21:46493611-46495619	Hela-S3	cervix:	n/a	n/a
16	HDAC2	chr21:46494830-46495666	MCF-7	breast:	n/a	n/a
17	POLR2A	chr21:46493353-46495580	K562	blood:	n/a	n/a
18	UBTF	chr21:46493360-46495761	K562	blood:	n/a	n/a
19	POLR2A	chr21:46493958-46495636	H1-neurons	neurons:	n/a	n/a
20	BACH1	chr21:46494113-46495614	H1-hESC	embryonic stem cell:	n/a	n/a
21	ELF1	chr21:46494685-46495662	GM12878	blood:	n/a	chr21:46495240-46495252 chr21:46495277-46495289 chr21:46494931-46494943
22	TBP	chr21:46495519-46496749	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr21:46495031-46495766	Hela-S3	cervix:	n/a	n/a
24	MYC	chr21:46493416-46495615	K562	blood:	n/a	n/a
25	MYC	chr21:46495542-46495592	HUVEC	blood vessel:	n/a	n/a
26	ZNF263	chr21:46494852-46495599	HEK293-T-REx	kidney:	n/a	n/a
27	MAX	chr21:46495400-46495745	K562	blood:	n/a	n/a
28	RAD21	chr21:46494705-46495668	IMR90	lung:	n/a	chr21:46495353-46495363
29	POLR2A	chr21:46493392-46495615	HepG2	liver:	n/a	n/a
30	HDAC2	chr21:46495254-46495605	HepG2	liver:	n/a	n/a
31	SMC3	chr21:46495044-46495658	Hela-S3	cervix:	n/a	n/a
32	CHD1	chr21:46493137-46497321	IMR90	lung:	n/a	n/a
33	RCOR1	chr21:46495493-46495724	K562	blood:	n/a	n/a
34	ZNF274	chr21:46494750-46495583	K562	blood:	n/a	n/a
35	UBTF	chr21:46493287-46495801	K562	blood:	n/a	n/a
36	KAP1	chr21:46495094-46496570	HEK293	kidney:	n/a	n/a
37	POLR2A	chr21:46494754-46495736	Hela-S3	cervix:	n/a	n/a
38	E2F6	chr21:46493325-46495660	K562	blood:	n/a	chr21:46494230-46494245
39	GATA3	chr21:46493027-46495588	MCF-7	breast:	n/a	n/a
40	TBL1XR1	chr21:46493350-46495577	K562	blood:	n/a	n/a
41	POLR2A	chr21:46492816-46495815	Hela-S3	cervix:	n/a	n/a
42	MAX	chr21:46495191-46495840	Hela-S3	cervix:	n/a	n/a

No data

(count:48 , 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	chr14:31495841..31497461-chr21:46493757..46496010,2	K562	blood:
5	chr21:46494888..46496545-chr21:46914062..46916067,2	K562	blood:
6	chr21:46231513..46241255-chr21:46492035..46497390,26	K562	blood:
7	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
8	chr21:46363747..46379047-chr21:46484156..46498795,67	K562	blood:
9	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
10	chr1:115300107..115301819-chr21:46494563..46496100,2	K562	blood:
11	chr21:46220974..46223825-chr21:46494380..46498218,5	MCF-7	breast:
12	chr21:46231904..46241990-chr21:46492035..46500735,28	K562	blood:
13	chr21:46355061..46362857-chr21:46490375..46496482,13	K562	blood:
14	chr21:46493165..46495720-chr21:46513762..46518212,6	MCF-7	breast:
15	chr21:46493210..46496355-chr21:46960101..46962644,7	K562	blood:
16	chr21:46494805..46496748-chr21:46849949..46852672,3	K562	blood:
17	chr21:46494831..46496533-chr21:46576092..46578670,2	K562	blood:
18	chr21:46492507..46498258-chr21:46706665..46711571,8	K562	blood:
19	chr21:46220151..46222677-chr21:46492186..46495962,3	K562	blood:
20	chr21:46420509..46434696-chr21:46492036..46497081,20	K562	blood:
21	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:
22	chr21:46387463..46395588-chr21:46492597..46498092,12	K562	blood:
23	chr1:21112741..21113311-chr21:46495175..46495793,2	Hela-S3	cervix:
24	chr21:46492924..46497122-chr21:46547379..46551295,4	MCF-7	breast:
25	chr21:46345821..46352717-chr21:46492682..46495835,7	MCF-7	breast:
26	chr21:44393563..44395189-chr21:46493572..46495769,2	K562	blood:
27	chr21:45553290..45555675-chr21:46493657..46496135,2	K562	blood:
28	chr21:46493602..46496021-chr6:27113430..27116414,2	K562	blood:
29	chr21:46495410..46497788-chr21:46536429..46538983,2	K562	blood:
30	chr1:16840594..16842106-chr21:46494370..46496112,2	K562	blood:
31	chr21:46390745..46393297-chr21:46494598..46497120,2	MCF-7	breast:
32	chr21:46494890..46496733-chr21:46901945..46904600,2	K562	blood:
33	chr21:46422255..46425486-chr21:46493644..46496852,6	K562	blood:
34	chr21:46494846..46497722-chr21:46974690..46977147,2	K562	blood:
35	chr21:46494154..46496164-chr21:46707875..46710753,3	K562	blood:
36	chr21:46330635..46333372-chr21:46493231..46495849,2	K562	blood:
37	chr21:46494313..46497302-chr21:46514232..46516454,3	MCF-7	breast:
38	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:
39	chr21:46348334..46352514-chr21:46492914..46497675,5	K562	blood:
40	chr21:46495351..46497648-chr21:46516468..46519256,2	MCF-7	breast:
41	chr21:46491911..46497737-chr21:46547142..46552694,13	K562	blood:
42	chr21:46413441..46419649-chr21:46493522..46496485,6	K562	blood:
43	chr21:46235651..46239241-chr21:46493223..46495632,4	MCF-7	breast:
44	chr21:46492324..46495855-chr21:46960806..46963103,3	K562	blood:
45	chr21:46493052..46496413-chr21:46547928..46550318,5	MCF-7	breast:
46	chr21:46493097..46497182-chr21:46538705..46543454,4	MCF-7	breast:
47	chr21:46493821..46495801-chr21:46704505..46706122,2	K562	blood:
48	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
ENSG00000173638	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000268805	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000234880	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000261135	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000127483	Chromatin interaction
ENSG00000215447	Chromatin interaction
ENSG00000182871	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000186866	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000160199	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000261706	Chromatin interaction
ENSG00000100478	Chromatin interaction
ENSG00000224930	Chromatin interaction
ENSG00000009307	Chromatin interaction
ENSG00000272825	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17004737	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2032253	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2838772	0.82[ASN][1000 genomes]
rs2838775	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2838777	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2838779	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2838780	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2838784	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2838785	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2877003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3171490	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73230653	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230662	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73230667	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73230670	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73230680	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73230681	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73232640	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8133767	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv3342735	chr21:46493424-46495897	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	45 gene(s)	inside rSNPs	diseases
5	esv3325657	chr21:46493549-46496097	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	45 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46493200-46495800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr21:46493400-46495600	Active TSS	Primary T cells from cord blood	blood
3	chr21:46493400-46495600	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr21:46493400-46495800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr21:46493400-46495800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr21:46493400-46495800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr21:46493400-46496000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr21:46493600-46495600	Active TSS	Brain Substantia Nigra	brain
9	chr21:46493600-46495600	Active TSS	Colon Smooth Muscle	Colon
10	chr21:46493600-46495600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr21:46493600-46495600	Active TSS	NHDF-Ad	bronchial
12	chr21:46493600-46495800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:46493600-46495800	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr21:46493600-46495800	Active TSS	Esophagus	oesophagus
15	chr21:46493600-46495800	Active TSS	Left Ventricle	heart
16	chr21:46493600-46496200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:46493600-46496600	Active TSS	HSMM	muscle
18	chr21:46493600-46496800	Active TSS	Aorta	Aorta
19	chr21:46493800-46495600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr21:46493800-46495600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr21:46493800-46495600	Active TSS	Fetal Lung	lung
22	chr21:46493800-46495800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:46493800-46495800	Active TSS	NH-A	brain
24	chr21:46493800-46496000	Active TSS	Muscle Satellite Cultured Cells	--
25	chr21:46493800-46496000	Bivalent/Poised TSS	Thymus	Thymus
26	chr21:46493800-46496000	Active TSS	Hela-S3	cervix
27	chr21:46493800-46496000	Active TSS	HMEC	breast
28	chr21:46493800-46496200	Active TSS	HSMMtube	muscle
29	chr21:46494800-46495600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr21:46494800-46495600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr21:46494800-46495600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
32	chr21:46494800-46495600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr21:46494800-46495800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr21:46495000-46495600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr21:46495000-46495600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr21:46495000-46495600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
37	chr21:46495000-46495600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr21:46495000-46495600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr21:46495000-46495600	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr21:46495000-46495600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
41	chr21:46495000-46495600	Flanking Active TSS	Lung	lung
42	chr21:46495000-46495600	Flanking Active TSS	Right Ventricle	heart
43	chr21:46495000-46495600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr21:46495000-46495600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
45	chr21:46495000-46495800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr21:46495000-46495800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr21:46495000-46495800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr21:46495000-46495800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
49	chr21:46495000-46495800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
50	chr21:46495000-46495800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links