Variant report

Variant	rs62229227
Chromosome Location	chr21:45201267-45201268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45201108-45201360	HepG2	liver:	n/a	n/a
2	FOS	chr21:45201157-45201278	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:45195296..45199656-chr21:45201104..45204314,12	MCF-7	breast:
2	chr21:45176466..45178627-chr21:45200875..45202774,2	K562	blood:
3	chr21:45188150..45190644-chr21:45201210..45202764,2	MCF-7	breast:
4	chr21:45132246..45134583-chr21:45199684..45202380,3	MCF-7	breast:
5	chr21:45137531..45139514-chr21:45200064..45202658,2	MCF-7	breast:
6	chr21:45166127..45168190-chr21:45198985..45201869,2	K562	blood:

No data

Variant related genes	Relation type
TMEM97P1	TF binding region
CSTB	TF binding region
ENSG00000160209	Chromatin interaction
ENSG00000160213	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs2070536	1.00[ASN][1000 genomes]
rs2070540	0.92[ASN][1000 genomes]
rs2073431	1.00[ASN][1000 genomes]
rs2276244	1.00[ASN][1000 genomes]
rs2838365	1.00[ASN][1000 genomes]
rs2838369	1.00[ASN][1000 genomes]
rs2838374	1.00[ASN][1000 genomes]
rs2838377	1.00[ASN][1000 genomes]
rs2838381	1.00[ASN][1000 genomes]
rs2838382	1.00[ASN][1000 genomes]
rs2838383	0.92[ASN][1000 genomes]
rs2838388	0.92[ASN][1000 genomes]
rs2838389	0.92[ASN][1000 genomes]
rs2838390	0.90[ASN][1000 genomes]
rs28691645	0.92[ASN][1000 genomes]
rs3819607	1.00[ASN][1000 genomes]
rs3819608	1.00[ASN][1000 genomes]
rs3819613	1.00[ASN][1000 genomes]
rs3819615	1.00[ASN][1000 genomes]
rs57450235	1.00[ASN][1000 genomes]
rs58078050	0.92[ASN][1000 genomes]
rs58464891	0.92[ASN][1000 genomes]
rs59461641	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62229220	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62229223	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62229224	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62229228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66472331	0.92[ASN][1000 genomes]
rs66829381	1.00[ASN][1000 genomes]
rs66850181	1.00[ASN][1000 genomes]
rs67002472	0.92[ASN][1000 genomes]
rs67083338	0.92[ASN][1000 genomes]
rs67127915	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67157971	0.84[ASN][1000 genomes]
rs67443123	0.92[ASN][1000 genomes]
rs67883823	0.92[ASN][1000 genomes]
rs73224966	1.00[ASN][1000 genomes]
rs73224970	0.92[ASN][1000 genomes]
rs73224973	0.92[ASN][1000 genomes]
rs73224979	0.90[ASN][1000 genomes]
rs73224984	0.86[ASN][1000 genomes]
rs73367288	0.92[ASN][1000 genomes]
rs73367302	0.86[ASN][1000 genomes]
rs73379004	1.00[ASN][1000 genomes]
rs73379033	1.00[ASN][1000 genomes]
rs73379037	1.00[ASN][1000 genomes]
rs73379050	0.92[ASN][1000 genomes]
rs73379055	0.92[ASN][1000 genomes]
rs73379058	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv1055154	chr21:45148076-45203162	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
13	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv913883	chr21:45191139-45252838	Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913884	chr21:45191139-45255836	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv544469	chr21:45194085-45257959	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45196800-45202000	Weak transcription	Liver	Liver
2	chr21:45196800-45203000	Weak transcription	Lung	lung
3	chr21:45196800-45206400	Weak transcription	Gastric	stomach
4	chr21:45196800-45206400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr21:45196800-45208800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:45196800-45209000	Weak transcription	Aorta	Aorta
7	chr21:45198800-45206400	Weak transcription	Spleen	Spleen
8	chr21:45198800-45206600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:45199000-45202000	Weak transcription	Hela-S3	cervix
10	chr21:45199000-45202600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr21:45199000-45202800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:45199000-45202800	Weak transcription	A549	lung
13	chr21:45199000-45203000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:45199000-45203000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:45199000-45203000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr21:45199000-45206400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr21:45199000-45208600	Weak transcription	Stomach Mucosa	stomach
18	chr21:45199000-45208800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:45199200-45202200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr21:45199200-45202400	Weak transcription	HMEC	breast
21	chr21:45199200-45202800	Enhancers	HepG2	liver
22	chr21:45199200-45204200	Weak transcription	K562	blood
23	chr21:45199200-45208400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:45199200-45208600	Weak transcription	Primary T cells from cord blood	blood
25	chr21:45199400-45202200	Weak transcription	Adipose Nuclei	Adipose
26	chr21:45199400-45202400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr21:45199400-45202800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr21:45199400-45208600	Weak transcription	Primary B cells from cord blood	blood
29	chr21:45199800-45201800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr21:45199800-45202400	Weak transcription	Fetal Thymus	thymus
31	chr21:45200000-45203000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr21:45200000-45206400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr21:45200600-45201400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr21:45200600-45202400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr21:45200600-45204600	Enhancers	NHEK	skin
36	chr21:45200800-45201600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr21:45200800-45201600	Enhancers	Duodenum Mucosa	Duodenum
38	chr21:45200800-45202400	Weak transcription	GM12878-XiMat	blood
39	chr21:45200800-45204800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr21:45201000-45201600	Enhancers	Fetal Intestine Large	intestine
41	chr21:45201000-45202200	Weak transcription	Esophagus	oesophagus
42	chr21:45201000-45203000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr21:45201000-45206600	Weak transcription	Colonic Mucosa	Colon

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