Variant report

Variant	rs58022842
Chromosome Location	chr1:78249766-78249767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78248996..78251794-chr1:78280482..78283115,2	K562	blood:
2	chr1:78249545..78252283-chr1:78261163..78263475,2	K562	blood:
3	chr1:78244962..78246984-chr1:78247452..78250329,2	MCF-7	breast:
4	chr1:78245288..78247129-chr1:78248802..78250620,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222849	Chromatin interaction
ENSG00000180488	Chromatin interaction

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

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

rs_ID	r²[population]
rs12027183	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12027952	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12035132	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17098297	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17100944	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56861428	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59656850	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9728416	0.81[EUR][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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
5	esv1796958	chr1:78138955-78267421	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1798160	chr1:78149941-78267421	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
8	nsv1004327	chr1:78212804-78352385	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr1:78246000-78250000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:78246000-78250000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:78246000-78250000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:78246000-78250400	Weak transcription	Gastric	stomach
5	chr1:78246000-78250600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:78246000-78250600	Weak transcription	Lung	lung
7	chr1:78246000-78251400	Weak transcription	Spleen	Spleen
8	chr1:78246000-78251800	Weak transcription	Esophagus	oesophagus
9	chr1:78246000-78265800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:78246000-78265800	Weak transcription	Pancreas	Pancrea
11	chr1:78246000-78284200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:78246000-78285600	Weak transcription	Colonic Mucosa	Colon
13	chr1:78246200-78249800	Weak transcription	Fetal Intestine Small	intestine
14	chr1:78246200-78250000	Weak transcription	Fetal Stomach	stomach
15	chr1:78246200-78250000	Weak transcription	Thymus	Thymus
16	chr1:78246200-78250400	Weak transcription	Right Ventricle	heart
17	chr1:78246200-78254000	Weak transcription	HSMMtube	muscle
18	chr1:78246200-78272000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:78246200-78272800	Weak transcription	Psoas Muscle	Psoas
20	chr1:78246200-78279400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:78246200-78279600	Weak transcription	Aorta	Aorta
22	chr1:78246400-78250000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:78246400-78250000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:78246400-78251200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:78246400-78251400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:78246400-78254200	Weak transcription	NH-A	brain
27	chr1:78246400-78272400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:78246400-78273200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:78246400-78274000	Weak transcription	Fetal Kidney	kidney
30	chr1:78246400-78287400	Weak transcription	Fetal Heart	heart
31	chr1:78246600-78274200	Weak transcription	HMEC	breast
32	chr1:78247000-78250000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:78247000-78250000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:78247200-78250000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:78247400-78278400	Weak transcription	Hela-S3	cervix
36	chr1:78247600-78250200	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:78247600-78254000	Weak transcription	Fetal Brain Male	brain
38	chr1:78247600-78262200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:78247600-78272400	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:78247800-78252600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:78247800-78257600	Weak transcription	NHDF-Ad	bronchial
42	chr1:78248000-78250000	Weak transcription	GM12878-XiMat	blood
43	chr1:78248000-78260000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr1:78248600-78250000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:78248600-78288200	Weak transcription	Small Intestine	intestine
46	chr1:78248800-78250600	Strong transcription	HSMM	muscle
47	chr1:78248800-78256800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:78249000-78250200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:78249000-78250200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:78249000-78250600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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