Variant report

Variant	rs55951339
Chromosome Location	chr21:45165372-45165373
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45165285-45165498	HepG2	liver:	n/a	n/a
2	POLR2A	chr21:45165154-45165504	HepG2	liver:	n/a	n/a
3	POLR2A	chr21:45165256-45165498	K562	blood:	n/a	n/a
4	POLR2A	chr21:45163399-45166360	A549	lung:	n/a	n/a
5	POLR2A	chr21:45165371-45165416	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45146930..45150669-chr21:45163613..45169103,5	K562	blood:
2	chr21:45164290..45167394-chr21:45171722..45175273,3	K562	blood:
3	chr21:45137354..45140305-chr21:45163614..45165870,3	MCF-7	breast:
4	chr21:45152139..45163298-chr21:45164540..45174522,16	K562	blood:
5	chr21:45165363..45167088-chr21:45194223..45196266,2	MCF-7	breast:
6	chr21:45138749..45140625-chr21:45164594..45167451,2	MCF-7	breast:
7	chr21:45163023..45165790-chr21:45170856..45174314,3	K562	blood:
8	chr21:45147353..45150091-chr21:45163613..45167274,4	K562	blood:

No data

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

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73908383	1.00[AMR][1000 genomes]
rs8127335	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8129408	0.82[AFR][1000 genomes]
rs8132097	1.00[AMR][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	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv913875	chr21:45119629-45191005	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	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
6	nsv587701	chr21:45128190-45181446	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv459290	chr21:45128454-45191139	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription 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	30 gene(s)	inside rSNPs	diseases
8	nsv587702	chr21:45128454-45191139	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv913878	chr21:45133868-45170285	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	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
11	esv1828675	chr21:45142427-45191139	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	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
18	esv1829806	chr21:45152477-45172562	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
19	esv33771	chr21:45155220-45167253	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
20	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
21	esv1826549	chr21:45157128-45170285	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
22	nsv587716	chr21:45160087-45176621	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45149000-45194400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr21:45149400-45175400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:45149800-45175200	Weak transcription	HUVEC	blood vessel
4	chr21:45149800-45188200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr21:45150000-45173200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr21:45152200-45183400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr21:45152400-45173200	Weak transcription	Psoas Muscle	Psoas
8	chr21:45154000-45167000	Weak transcription	Small Intestine	intestine
9	chr21:45154400-45184200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr21:45154800-45174600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr21:45155200-45169200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr21:45156200-45167400	Weak transcription	Brain Germinal Matrix	brain
13	chr21:45156800-45170600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:45158200-45173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr21:45160600-45185600	Strong transcription	Fetal Intestine Small	intestine
16	chr21:45160800-45187200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr21:45161000-45174400	Weak transcription	Fetal Heart	heart
18	chr21:45161200-45168800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr21:45161200-45177200	Strong transcription	HepG2	liver
20	chr21:45161200-45183600	Strong transcription	Fetal Intestine Large	intestine
21	chr21:45161400-45176400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr21:45161400-45182200	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr21:45161400-45183200	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr21:45161400-45185400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr21:45161600-45168400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr21:45161600-45170600	Strong transcription	Adipose Nuclei	Adipose
27	chr21:45161600-45171600	Strong transcription	Right Ventricle	heart
28	chr21:45161600-45172400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:45161600-45174600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr21:45161600-45176800	Strong transcription	Placenta	Placenta
31	chr21:45161600-45177000	Strong transcription	Osteobl	bone
32	chr21:45161600-45178000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr21:45161600-45179000	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr21:45161600-45179400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr21:45161600-45183000	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr21:45161800-45168000	Strong transcription	Left Ventricle	heart
37	chr21:45161800-45169400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr21:45161800-45174400	Strong transcription	Spleen	Spleen
39	chr21:45161800-45184800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr21:45162000-45168600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr21:45162000-45170400	Strong transcription	Gastric	stomach
42	chr21:45162000-45170400	Strong transcription	Pancreas	Pancrea
43	chr21:45162000-45176200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr21:45162000-45177200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr21:45162000-45178000	Strong transcription	Lung	lung
46	chr21:45162000-45180000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:45162000-45185200	Weak transcription	Thymus	Thymus
48	chr21:45162200-45181600	Strong transcription	NHEK	skin
49	chr21:45162400-45168200	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr21:45162400-45176600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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