Variant report

Variant	rs9983621
Chromosome Location	chr21:46349702-46349703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr21:46349097-46350373	GM12878	blood:	n/a	n/a
2	TBL1XR1	chr21:46349356-46350324	GM12878	blood:	n/a	n/a
3	RELA	chr21:46349482-46351776	GM15510	blood:	n/a	n/a
4	POLR2A	chr21:46349243-46352888	GM18526	blood:	n/a	n/a
5	POLR2A	chr21:46349648-46349800	HepG2	liver:	n/a	n/a
6	EBF1	chr21:46349081-46351931	GM12878	blood:	n/a	chr21:46351222-46351233 chr21:46351223-46351232 chr21:46351223-46351232 chr21:46351221-46351234
7	STAT1	chr21:46349617-46350153	GM12878	blood:	n/a	chr21:46349986-46349998 chr21:46350114-46350126 chr21:46350113-46350125
8	EBF1	chr21:46349672-46351552	GM12878	blood:	n/a	chr21:46351222-46351233 chr21:46351223-46351232 chr21:46351223-46351232 chr21:46351221-46351234
9	BATF	chr21:46349669-46350031	GM12878	blood:	n/a	n/a
10	BHLHE40	chr21:46349533-46350281	GM12878	blood:	n/a	n/a
11	PML	chr21:46348961-46350227	GM12878	blood:	n/a	n/a
12	POLR2A	chr21:46349652-46349774	MCF-7	breast:	n/a	n/a
13	POLR2A	chr21:46349281-46350379	GM12878	blood:	n/a	n/a
14	RELA	chr21:46349479-46350315	GM19099	blood:	n/a	n/a
15	IKZF1	chr21:46349641-46350052	GM12878	blood:	n/a	n/a
16	STAT5A	chr21:46349418-46350117	GM12878	blood:	n/a	chr21:46349986-46349998
17	MTA3	chr21:46349056-46351679	GM12878	blood:	n/a	n/a
18	STAT3	chr21:46349374-46349881	GM12878	blood:	n/a	n/a
19	RUNX3	chr21:46349273-46350520	GM12878	blood:	n/a	n/a
20	TBP	chr21:46349481-46349841	GM12878	blood:	n/a	n/a
21	BATF	chr21:46349649-46349996	GM12878	blood:	n/a	n/a
22	RCOR1	chr21:46347230-46349949	IMR90	lung:	n/a	n/a
23	POLR2A	chr21:46349053-46353060	GM18951	blood:	n/a	n/a
24	POLR2A	chr21:46349622-46353037	GM15510	blood:	n/a	n/a
25	NFIC	chr21:46349133-46350396	GM12878	blood:	n/a	n/a
26	MXI1	chr21:46349567-46349817	GM12878	blood:	n/a	n/a
27	POLR2A	chr21:46349522-46349813	MCF10A-Er-Src	breast:	n/a	n/a
28	IRF4	chr21:46349394-46350088	GM12878	blood:	n/a	n/a
29	MAX	chr21:46349622-46350091	GM12878	blood:	n/a	chr21:46349715-46349722 chr21:46349713-46349724 chr21:46349990-46350000 chr21:46349714-46349723
30	FAM48A	chr21:46349495-46349750	GM12878	blood:	n/a	n/a
31	POLR2A	chr21:46348892-46353194	GM12878	blood:	n/a	n/a
32	CBX3	chr21:46349434-46349704	K562	blood:	n/a	n/a
33	SMC3	chr21:46349661-46349975	GM12878	blood:	n/a	n/a
34	ZNF384	chr21:46349557-46349702	GM12878	blood:	n/a	n/a
35	RCOR1	chr21:46349345-46349815	GM12878	blood:	n/a	n/a
36	FOXM1	chr21:46349680-46350095	GM12878	blood:	n/a	n/a
37	USF2	chr21:46349555-46349879	GM12878	blood:	n/a	n/a
38	POLR2A	chr21:46346154-46355833	GM19099	blood:	n/a	n/a
39	CHD2	chr21:46349370-46350245	GM12878	blood:	n/a	n/a
40	POLR2A	chr21:46349337-46350022	GM12878	blood:	n/a	n/a
41	POLR2A	chr21:46349083-46352292	GM12891	blood:	n/a	n/a
42	MAZ	chr21:46349461-46351638	GM12878	blood:	n/a	chr21:46350706-46350715 chr21:46351194-46351204 chr21:46349715-46349722 chr21:46351169-46351179 chr21:46349713-46349724 chr21:46349990-46350000 chr21:46350112-46350122 chr21:46350108-46350118 chr21:46349714-46349723
43	POLR2A	chr21:46349676-46352025	GM19193	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
2	chr21:46349055..46351032-chr21:46493561..46495184,2	MCF-7	breast:
3	chr21:46235954..46239342-chr21:46346367..46350296,5	K562	blood:
4	chr21:46220228..46226309-chr21:46349546..46355767,8	K562	blood:
5	chr21:46345821..46352717-chr21:46492682..46495835,7	MCF-7	breast:
6	chr21:46348334..46352514-chr21:46492914..46497675,5	K562	blood:
7	chr21:46346404..46349719-chr6:26054432..26057685,3	MCF-7	breast:
8	chr21:46219434..46222664-chr21:46346417..46349763,6	MCF-7	breast:
9	chr21:46348891..46351856-chr21:46356275..46360285,3	K562	blood:
10	chr21:46288744..46296879-chr21:46346201..46354260,26	MCF-7	breast:
11	chr21:46220263..46223201-chr21:46349640..46352735,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf67-7	chr21:46349568-46350027	ENSG00000273027.1

Variant related genes	Relation type
ITGB2	TF binding region
ENSG00000183255	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000236519	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11702488	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12626759	0.80[EUR][1000 genomes]
rs1721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2014191	0.92[EUR][1000 genomes]
rs7276960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7281820	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9974949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9975055	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv933240	chr21:46305956-46371518	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv913974	chr21:46306161-46430792	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	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
10	nsv1064518	chr21:46317690-46413159	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv913981	chr21:46344426-46408790	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv913982	chr21:46344426-46430792	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
17	nsv913984	chr21:46344426-46435610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv913983	chr21:46344426-46440385	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv913985	chr21:46344426-46448142	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv913986	chr21:46344426-46466674	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
21	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
22	esv1808790	chr21:46349496-46355712	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46340600-46351400	Weak transcription	Right Atrium	heart
2	chr21:46344400-46349800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:46345600-46351200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr21:46346000-46352000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr21:46346200-46352200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr21:46347000-46351800	Enhancers	Spleen	Spleen
7	chr21:46348200-46351000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:46348200-46351200	Enhancers	Primary hematopoietic stem cells	blood
9	chr21:46348200-46351400	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr21:46348400-46350200	Enhancers	Dnd41	blood
11	chr21:46348400-46350600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:46348400-46350800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr21:46348400-46351000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr21:46348600-46349800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:46348600-46350000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr21:46348600-46350400	Enhancers	HMEC	breast
17	chr21:46348600-46350600	Enhancers	Primary B cells from peripheral blood	blood
18	chr21:46348600-46350600	Enhancers	Thymus	Thymus
19	chr21:46348600-46350800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr21:46348800-46349800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr21:46348800-46350200	Enhancers	Primary B cells from cord blood	blood
22	chr21:46349000-46349800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
23	chr21:46349000-46350200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr21:46349000-46351800	Flanking Active TSS	GM12878-XiMat	blood
25	chr21:46349200-46349800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr21:46349200-46350000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr21:46349200-46350200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr21:46349200-46350600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr21:46349200-46351200	Weak transcription	A549	lung
30	chr21:46349400-46350000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr21:46349400-46350200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr21:46349400-46350200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr21:46349400-46350200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr21:46349400-46350200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr21:46349400-46350200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr21:46349400-46350200	Enhancers	Fetal Thymus	thymus
37	chr21:46349400-46350600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr21:46349400-46350600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr21:46349400-46350600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr21:46349400-46350800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr21:46349400-46350800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr21:46349400-46351000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr21:46349400-46351000	Enhancers	HSMM	muscle
44	chr21:46349400-46351600	Bivalent Enhancer	NHEK	skin
45	chr21:46349600-46350000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr21:46349600-46350000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr21:46349600-46350000	Weak transcription	Liver	Liver
48	chr21:46349600-46350200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
49	chr21:46349600-46350200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr21:46349600-46350400	Flanking Active TSS	HepG2	liver

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