Variant report

Variant	rs4818992
Chromosome Location	chr21:46357697-46357698
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:46356813-46357963	K562	blood:	n/a	n/a
2	POLR2A	chr21:46356460-46358031	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr21:46356473-46360821	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr21:46356140-46358015	GM12891	blood:	n/a	n/a
5	POLR2A	chr21:46357607-46358003	K562	blood:	n/a	n/a
6	POLR2A	chr21:46356017-46358021	SK-N-MC	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:46330811..46333769-chr21:46356945..46358826,2	K562	blood:
2	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
3	chr21:46235785..46239443-chr21:46357143..46362674,8	MCF-7	breast:
4	chr21:46353923..46356909-chr21:46357554..46361249,6	K562	blood:
5	chr21:46348891..46351856-chr21:46356275..46360285,3	K562	blood:
6	chr21:46236285..46239693-chr21:46357237..46360614,5	K562	blood:
7	chr21:46357049..46359694-chr21:46468700..46471270,2	K562	blood:
8	chr21:46355061..46362857-chr21:46490375..46496482,13	K562	blood:
9	chr21:46357121..46360685-chr21:46377277..46380905,4	MCF-7	breast:
10	chr21:46218606..46224662-chr21:46357422..46363606,13	MCF-7	breast:

No data

Variant related genes	Relation type
FAM207A	TF binding region
ENSG00000235374	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000272825	Chromatin interaction
ENSG00000184787	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10775679	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11088970	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11088972	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11088973	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11701017	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11701173	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11701737	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12106389	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12626600	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13046102	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2294169	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838749	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3827260	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.83[ASN][1000 genomes]
rs4818745	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4818989	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818991	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818998	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4819000	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56122469	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56199687	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7277732	0.92[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs7278544	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7278847	0.96[CEU][hapmap];0.89[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7283236	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs883907	0.85[CEU][hapmap];0.93[CHB][hapmap]
rs883908	0.93[CHB][hapmap]
rs9974072	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9974152	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974593	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9976402	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	nsv913988	chr21:46356816-46408790	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv913989	chr21:46356816-46430792	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
24	nsv913990	chr21:46356816-46448142	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
25	nsv913991	chr21:46356816-46472929	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4818992	C21orf69	cis	multi-tissue	Pritchard

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46352800-46358400	Weak transcription	HMEC	breast
2	chr21:46353000-46358600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr21:46353000-46358800	Weak transcription	Right Ventricle	heart
4	chr21:46353000-46359000	Weak transcription	Brain Anterior Caudate	brain
5	chr21:46353000-46359000	Weak transcription	Right Atrium	heart
6	chr21:46353200-46358600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr21:46353200-46358600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr21:46353200-46358800	Weak transcription	Pancreas	Pancrea
9	chr21:46353200-46359000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr21:46353200-46359000	Weak transcription	HUVEC	blood vessel
11	chr21:46353200-46359200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr21:46353400-46358800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr21:46353400-46358800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr21:46353400-46358800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:46353400-46359000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr21:46353400-46359200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr21:46353600-46358600	Weak transcription	Liver	Liver
18	chr21:46353600-46358800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr21:46353600-46358800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr21:46353600-46358800	Weak transcription	Spleen	Spleen
21	chr21:46353600-46359000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr21:46353600-46359200	Weak transcription	Primary T cells from cord blood	blood
23	chr21:46353800-46358800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:46353800-46358800	Weak transcription	Primary B cells from cord blood	blood
25	chr21:46353800-46358800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr21:46353800-46358800	Weak transcription	Gastric	stomach
27	chr21:46353800-46358800	Weak transcription	HSMM	muscle
28	chr21:46353800-46358800	Weak transcription	Osteobl	bone
29	chr21:46353800-46359000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr21:46353800-46359000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr21:46353800-46359000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr21:46353800-46359000	Weak transcription	HSMMtube	muscle
33	chr21:46354000-46358600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr21:46354000-46358800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr21:46354000-46358800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr21:46354000-46359400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr21:46354200-46359000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr21:46354600-46358800	Weak transcription	Esophagus	oesophagus
39	chr21:46354600-46358800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr21:46354800-46358800	Weak transcription	Colon Smooth Muscle	Colon
41	chr21:46354800-46358800	Weak transcription	Fetal Intestine Small	intestine
42	chr21:46355200-46358800	Weak transcription	GM12878-XiMat	blood
43	chr21:46355200-46359000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr21:46355400-46358600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr21:46355400-46358600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr21:46355400-46358600	Weak transcription	Brain Germinal Matrix	brain
47	chr21:46355400-46358600	Weak transcription	Thymus	Thymus
48	chr21:46355600-46358800	Weak transcription	Fetal Stomach	stomach
49	chr21:46355800-46357800	Enhancers	HepG2	liver
50	chr21:46355800-46358800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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