Variant report

Variant	rs61321212
Chromosome Location	chr4:455022-455023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs34120878	1.00[AMR][1000 genomes]
rs56819697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57122804	1.00[AMR][1000 genomes]
rs57823756	1.00[AMR][1000 genomes]
rs61656126	1.00[AMR][1000 genomes]
rs73056524	1.00[AMR][1000 genomes]
rs73056539	1.00[AMR][1000 genomes]
rs73056540	1.00[AMR][1000 genomes]
rs73056541	1.00[AMR][1000 genomes]
rs73074227	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1001899	chr4:68809-517736	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats 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 miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532703	chr4:72447-614414	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv1010829	chr4:147570-547070	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv536970	chr4:147570-547070	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:395000-455800	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr4:405000-455400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:407600-466200	ZNF genes & repeats	Liver	Liver
4	chr4:415600-455200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:416000-455200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:416400-466800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:416600-455200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr4:419600-455200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr4:419600-455200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr4:419800-455200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:423400-455200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr4:423600-455200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr4:423800-455200	ZNF genes & repeats	Dnd41	blood
14	chr4:425400-465400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
15	chr4:433400-466400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr4:433400-467000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:435600-466000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
18	chr4:435800-455200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
19	chr4:436600-466000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:437000-455200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:445000-455800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:445200-455200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:445200-455200	ZNF genes & repeats	Fetal Intestine Large	intestine
24	chr4:449400-459800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:449400-466600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:450800-466400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:451000-455200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:451000-455200	ZNF genes & repeats	Fetal Lung	lung
29	chr4:452000-457600	Weak transcription	NHDF-Ad	bronchial
30	chr4:452200-455200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:452200-457800	Weak transcription	A549	lung
32	chr4:452200-458800	Weak transcription	Stomach Mucosa	stomach
33	chr4:452200-459000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr4:452200-459600	Weak transcription	HUVEC	blood vessel
35	chr4:452200-459800	Weak transcription	NHLF	lung
36	chr4:452400-457200	Weak transcription	HMEC	breast
37	chr4:452400-457200	Weak transcription	HSMM	muscle
38	chr4:452400-457400	Weak transcription	Osteobl	bone
39	chr4:452400-457600	Weak transcription	HSMMtube	muscle
40	chr4:452400-458400	Weak transcription	NH-A	brain
41	chr4:452400-458600	Weak transcription	Right Ventricle	heart
42	chr4:452400-459000	Weak transcription	K562	blood
43	chr4:452400-460400	Weak transcription	Hela-S3	cervix
44	chr4:452600-457000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:452600-457200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr4:452600-459600	Weak transcription	Fetal Heart	heart
47	chr4:452600-461200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr4:453000-457400	Weak transcription	Placenta	Placenta
49	chr4:453200-456800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:453200-457000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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