Variant report

Variant	rs73376613
Chromosome Location	chr21:47061846-47061847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr21:47061610-47061868	GM12892	blood:	n/a	n/a
2	PAX5	chr21:47061564-47061874	GM12878	blood:	n/a	n/a
3	PAX5	chr21:47061572-47061966	GM12878	blood:	n/a	n/a
4	PAX5	chr21:47061578-47061853	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46961035..46963239-chr21:47061163..47064234,4	MCF-7	breast:
2	chr21:47058472..47062802-chr21:47073375..47076804,3	MCF-7	breast:
3	chr21:47035998..47037896-chr21:47060266..47063425,3	MCF-7	breast:
4	chr21:47060499..47063225-chr21:47086755..47088271,2	MCF-7	breast:
5	chr21:47039810..47042625-chr21:47060618..47063331,3	MCF-7	breast:
6	chr21:47061104..47062756-chr21:47743383..47745371,2	MCF-7	breast:
7	chr21:47012314..47016239-chr21:47061189..47064828,5	K562	blood:

No data

Variant related genes	Relation type
PCBP3	TF binding region
ENSG00000160298	Chromatin interaction
ENSG00000233922	Chromatin interaction
ENSG00000160299	Chromatin interaction
ENSG00000173638	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11908989	1.00[EUR][1000 genomes]
rs11910200	1.00[EUR][1000 genomes]
rs11910741	1.00[EUR][1000 genomes]
rs11910904	1.00[EUR][1000 genomes]
rs11911016	1.00[EUR][1000 genomes]
rs12329894	1.00[EUR][1000 genomes]
rs16978611	1.00[EUR][1000 genomes]
rs2877093	1.00[EUR][1000 genomes]
rs56248019	1.00[EUR][1000 genomes]
rs56789580	1.00[EUR][1000 genomes]
rs58160661	1.00[EUR][1000 genomes]
rs58393620	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58476668	1.00[EUR][1000 genomes]
rs58614340	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59852288	1.00[EUR][1000 genomes]
rs60300060	1.00[EUR][1000 genomes]
rs60541263	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60918845	1.00[EUR][1000 genomes]
rs61151390	1.00[EUR][1000 genomes]
rs61265907	1.00[EUR][1000 genomes]
rs61398316	1.00[EUR][1000 genomes]
rs73376621	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376631	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376653	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376677	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376685	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376697	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378536	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378554	1.00[EUR][1000 genomes]
rs73378560	1.00[EUR][1000 genomes]
rs73378572	1.00[EUR][1000 genomes]
rs73378580	1.00[EUR][1000 genomes]
rs73378582	1.00[EUR][1000 genomes]
rs73378589	1.00[EUR][1000 genomes]
rs73378591	1.00[EUR][1000 genomes]
rs73378594	1.00[EUR][1000 genomes]
rs73378597	1.00[EUR][1000 genomes]
rs73378599	1.00[EUR][1000 genomes]
rs73380609	1.00[EUR][1000 genomes]
rs73380618	1.00[EUR][1000 genomes]
rs73380620	1.00[EUR][1000 genomes]
rs73380624	1.00[EUR][1000 genomes]
rs73380625	1.00[EUR][1000 genomes]
rs73380629	1.00[EUR][1000 genomes]
rs73380634	1.00[EUR][1000 genomes]
rs73380636	1.00[EUR][1000 genomes]
rs73380639	1.00[EUR][1000 genomes]
rs73380641	1.00[EUR][1000 genomes]
rs73380652	1.00[EUR][1000 genomes]
rs73380656	1.00[EUR][1000 genomes]
rs73380658	1.00[EUR][1000 genomes]
rs73380665	1.00[EUR][1000 genomes]
rs73380668	1.00[EUR][1000 genomes]
rs73380670	1.00[EUR][1000 genomes]
rs73380672	1.00[EUR][1000 genomes]
rs73380673	1.00[EUR][1000 genomes]
rs73380675	1.00[EUR][1000 genomes]
rs73380682	1.00[EUR][1000 genomes]
rs73380688	1.00[EUR][1000 genomes]
rs73382504	1.00[EUR][1000 genomes]
rs8127953	1.00[EUR][1000 genomes]
rs8129037	1.00[EUR][1000 genomes]
rs8133670	1.00[EUR][1000 genomes]
rs8133782	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1057807	chr21:46656346-47077374	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2762114	chr21:46680202-47067744	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
5	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
6	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
7	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
8	nsv914077	chr21:46998548-47091361	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
9	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
10	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
11	nsv587864	chr21:47053453-47070718	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS 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	5 gene(s)	inside rSNPs	n/a
12	esv3338089	chr21:47061324-47064672	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
13	esv3448839	chr21:47061324-47065322	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
14	esv3376015	chr21:47061349-47064897	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
15	esv3326927	chr21:47061524-47065022	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47056400-47063600	Weak transcription	K562	blood
2	chr21:47056600-47063600	Weak transcription	Pancreas	Pancrea
3	chr21:47058800-47062000	Enhancers	Primary B cells from peripheral blood	blood
4	chr21:47058800-47062200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr21:47059000-47062000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr21:47059200-47062000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr21:47059200-47062200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:47059400-47062000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr21:47059400-47062400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr21:47059400-47062400	Enhancers	Spleen	Spleen
11	chr21:47059800-47062000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr21:47059800-47062400	Enhancers	Primary B cells from cord blood	blood
13	chr21:47060200-47062000	Bivalent Enhancer	Placenta	Placenta
14	chr21:47060200-47062200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr21:47060200-47062400	Bivalent Enhancer	Brain Germinal Matrix	brain
16	chr21:47060400-47062200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr21:47060400-47062400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr21:47060600-47062000	Weak transcription	Dnd41	blood
19	chr21:47060600-47062200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr21:47060600-47062400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr21:47060600-47062800	Enhancers	Primary T cells from cord blood	blood
22	chr21:47060800-47062000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr21:47060800-47062000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr21:47060800-47063600	Weak transcription	HSMMtube	muscle
25	chr21:47060800-47064200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr21:47061000-47062400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr21:47061000-47062600	Enhancers	GM12878-XiMat	blood
28	chr21:47061200-47062000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:47061200-47062000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr21:47061200-47062400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr21:47061200-47062400	Weak transcription	HSMM	muscle
32	chr21:47061200-47064200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr21:47061400-47062200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
34	chr21:47061400-47062200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr21:47061400-47062200	Flanking Active TSS	Fetal Thymus	thymus
36	chr21:47061400-47062400	Weak transcription	NH-A	brain
37	chr21:47061400-47062600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr21:47061400-47062800	Active TSS	H9 Cell Line	embryonic stem cell
39	chr21:47061400-47062800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr21:47061400-47063600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr21:47061600-47062000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr21:47061600-47062000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr21:47061600-47062000	Enhancers	Adipose Nuclei	Adipose
44	chr21:47061600-47062000	Active TSS	Colonic Mucosa	Colon
45	chr21:47061600-47062000	Enhancers	Small Intestine	intestine
46	chr21:47061600-47062200	Enhancers	Gastric	stomach
47	chr21:47061600-47062400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr21:47061600-47062400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr21:47061600-47063600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr21:47061600-47064000	Weak transcription	NHDF-Ad	bronchial

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