Variant report

Variant	rs4982405
Chromosome Location	chr14:21542037-21542038
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21542026-21542607	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:21541691-21542587	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:21541798-21542389	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:21541693..21544085-chr14:21569593..21572197,2	MCF-7	breast:
2	chr14:21540981..21542850-chr14:21570745..21572506,2	K562	blood:
3	chr14:21536330..21539100-chr14:21541107..21543539,3	K562	blood:
4	chr14:21541253..21544061-chr14:21560086..21562416,3	K562	blood:
5	chr14:21540755..21543423-chr14:21560916..21563307,2	K562	blood:
6	chr14:21536664..21539364-chr14:21541647..21545270,3	MCF-7	breast:
7	chr14:21534879..21542621-chr14:21563384..21568050,9	MCF-7	breast:

No data

Variant related genes	Relation type
NDRG2	TF binding region
ARHGEF40	TF binding region
ENSG00000165804	Chromatin interaction
ENSG00000165795	Chromatin interaction
ENSG00000232070	Chromatin interaction
ENSG00000165801	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11156830	0.89[ASN][1000 genomes]
rs11629332	0.81[ASN][1000 genomes]
rs1243472	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12881001	0.89[ASN][1000 genomes]
rs1952151	0.86[ASN][1000 genomes]
rs3827913	0.88[ASN][1000 genomes]
rs7140850	0.88[ASN][1000 genomes]
rs7143633	0.89[ASN][1000 genomes]
rs7149011	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS 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 miRNA	45 gene(s)	inside rSNPs	diseases
2	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
9	nsv528337	chr14:21540863-21565189	Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv525724	chr14:21540863-21574690	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21539800-21543200	Weak transcription	Esophagus	oesophagus
2	chr14:21540200-21542200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:21540200-21544000	Weak transcription	Psoas Muscle	Psoas
4	chr14:21540400-21542400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr14:21540400-21542400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
6	chr14:21540400-21543200	Genic enhancers	Fetal Muscle Leg	muscle
7	chr14:21540400-21543400	Weak transcription	Brain Angular Gyrus	brain
8	chr14:21540400-21547000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:21540600-21542400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
10	chr14:21540600-21542400	Genic enhancers	Fetal Stomach	stomach
11	chr14:21540600-21543200	Weak transcription	Fetal Brain Female	brain
12	chr14:21540600-21543800	Weak transcription	K562	blood
13	chr14:21540600-21544000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:21540600-21544600	Weak transcription	HMEC	breast
15	chr14:21540600-21550200	Weak transcription	A549	lung
16	chr14:21540800-21542200	Enhancers	Right Atrium	heart
17	chr14:21540800-21542400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:21540800-21542400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:21540800-21542400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:21540800-21542400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:21540800-21543400	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr14:21540800-21543800	Weak transcription	Fetal Brain Male	brain
23	chr14:21540800-21544000	Weak transcription	NHEK	skin
24	chr14:21540800-21552400	Weak transcription	Fetal Heart	heart
25	chr14:21540800-21554000	Weak transcription	Primary B cells from cord blood	blood
26	chr14:21540800-21554800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:21541000-21542200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:21541000-21542200	Strong transcription	HepG2	liver
29	chr14:21541000-21542200	Genic enhancers	NHDF-Ad	bronchial
30	chr14:21541000-21542400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:21541000-21542600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:21541000-21543400	Weak transcription	Brain Substantia Nigra	brain
33	chr14:21541000-21544000	Genic enhancers	Pancreas	Pancrea
34	chr14:21541000-21544200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr14:21541000-21544600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:21541000-21544600	Genic enhancers	Spleen	Spleen
37	chr14:21541000-21552200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:21541000-21552600	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr14:21541000-21554000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:21541000-21554400	Strong transcription	Lung	lung
41	chr14:21541000-21555000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:21541000-21555200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr14:21541000-21555200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:21541000-21555600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:21541000-21561000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:21541200-21542200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:21541200-21542400	Genic enhancers	Gastric	stomach
48	chr14:21541200-21543400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:21541200-21543800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:21541200-21548600	Strong transcription	HSMM	muscle

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