Variant report

Variant	rs76171012
Chromosome Location	chr21:44765172-44765173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44727213..44729404-chr21:44763537..44765714,2	MCF-7	breast:
2	chr21:44763218..44765944-chr21:44956072..44958791,2	MCF-7	breast:
3	chr21:44760842..44763171-chr21:44763697..44767030,3	K562	blood:
4	chr21:44763368..44765642-chr21:44914794..44917033,2	MCF-7	breast:
5	chr21:44762861..44766108-chr21:44815534..44819790,6	MCF-7	breast:
6	chr21:44758057..44765899-chr21:44844420..44848527,21	MCF-7	breast:
7	chr21:44762784..44765751-chr21:44820003..44823083,3	MCF-7	breast:
8	chr21:44763173..44768518-chr21:44813268..44818095,5	MCF-7	breast:
9	chr21:44757282..44768663-chr21:44841832..44851703,32	MCF-7	breast:
10	chr21:44760657..44765448-chr21:44921066..44925837,8	MCF-7	breast:
11	chr10:121201956..121203476-chr21:44763552..44765786,2	MCF-7	breast:
12	chr21:44596302..44600320-chr21:44763162..44765941,4	MCF-7	breast:
13	chr21:44762851..44766380-chr21:44911854..44916267,4	MCF-7	breast:
14	chr21:44760744..44765599-chr21:44927861..44932973,6	MCF-7	breast:
15	chr21:44760953..44765969-chr21:44827582..44835473,8	MCF-7	breast:
16	chr21:44762520..44766319-chr21:44766634..44772911,10	MCF-7	breast:
17	chr21:44735042..44737101-chr21:44763924..44765952,2	MCF-7	breast:
18	chr21:44751238..44755950-chr21:44756394..44765973,26	MCF-7	breast:
19	chr21:44763228..44765264-chr21:44934553..44936247,2	MCF-7	breast:
20	chr21:44762766..44765210-chr21:44829593..44833216,5	MCF-7	breast:
21	chr21:44763647..44766059-chr21:44781611..44784345,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction
ENSG00000237989	Chromatin interaction
ENSG00000237864	Chromatin interaction
ENSG00000225637	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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	nsv1067412	chr21:44526656-44772130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv913832	chr21:44579105-44768562	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1817359	chr21:44699077-44821595	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1059062	chr21:44711272-44779969	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
8	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
9	nsv1058308	chr21:44722915-44825108	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv1063186	chr21:44729904-44828476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv544467	chr21:44729904-44828476	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913837	chr21:44731138-44853859	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
14	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
15	nsv913840	chr21:44750643-44823479	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913841	chr21:44761874-44853859	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
17	nsv913842	chr21:44764895-44792929	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44754800-44781200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:44757600-44770000	Enhancers	Fetal Muscle Leg	muscle
3	chr21:44758200-44765600	Enhancers	Stomach Mucosa	stomach
4	chr21:44758600-44765600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr21:44759600-44772000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr21:44759800-44765200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr21:44759800-44766400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:44760200-44765200	Enhancers	Fetal Intestine Large	intestine
9	chr21:44760200-44766600	Enhancers	Esophagus	oesophagus
10	chr21:44760600-44768000	Weak transcription	Right Atrium	heart
11	chr21:44761200-44765600	Weak transcription	Right Ventricle	heart
12	chr21:44761200-44765800	Weak transcription	HUVEC	blood vessel
13	chr21:44761400-44769600	Enhancers	Fetal Lung	lung
14	chr21:44761600-44765600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr21:44761800-44768800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr21:44762000-44765800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr21:44762000-44766000	Weak transcription	HSMMtube	muscle
18	chr21:44762000-44766600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:44762600-44765200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr21:44762600-44766600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:44762600-44769000	Weak transcription	HSMM	muscle
22	chr21:44762800-44765600	Enhancers	Pancreas	Pancrea
23	chr21:44762800-44769600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr21:44763000-44766600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr21:44763200-44768200	Weak transcription	Fetal Heart	heart
26	chr21:44763200-44769600	Enhancers	Fetal Thymus	thymus
27	chr21:44763200-44769800	Enhancers	Spleen	Spleen
28	chr21:44763600-44765400	Enhancers	Fetal Intestine Small	intestine
29	chr21:44763600-44768200	Enhancers	HepG2	liver
30	chr21:44763600-44780800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr21:44763800-44765200	Enhancers	Fetal Stomach	stomach
32	chr21:44763800-44765200	Enhancers	Ovary	ovary
33	chr21:44763800-44765400	Enhancers	Gastric	stomach
34	chr21:44763800-44766600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr21:44763800-44766800	Enhancers	HMEC	breast
36	chr21:44763800-44767000	Enhancers	Lung	lung
37	chr21:44764000-44766000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr21:44764000-44766200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr21:44764000-44766600	Enhancers	NHEK	skin
40	chr21:44764000-44767800	Bivalent Enhancer	Placenta	Placenta
41	chr21:44764200-44765400	Weak transcription	Hela-S3	cervix
42	chr21:44764400-44766400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr21:44764400-44769000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr21:44764600-44765400	Flanking Active TSS	A549	lung
45	chr21:44764600-44766200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr21:44764600-44766400	Enhancers	Fetal Muscle Trunk	muscle
47	chr21:44764600-44768800	Weak transcription	Fetal Brain Female	brain
48	chr21:44764800-44765400	Enhancers	Stomach Smooth Muscle	stomach
49	chr21:44764800-44770200	Weak transcription	Fetal Brain Male	brain
50	chr21:44765000-44765600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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