Variant report

Variant	rs58823330
Chromosome Location	chr1:211750134-211750135
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211715152..211718143-chr1:211748506..211750792,2	K562	blood:
2	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:
3	chr1:211686187..211688121-chr1:211747912..211750697,2	K562	blood:
4	chr1:211750060..211753695-chr1:211824093..211827463,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228792	Chromatin interaction
ENSG00000222080	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11119772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17017739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58237495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58525100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59771307	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60668234	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs609832	0.83[ASN][1000 genomes]
rs74137713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543376	0.93[ASN][1000 genomes]
rs784837	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1836726	chr1:211736470-211752981	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211745800-211750800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:211747000-211750600	Weak transcription	Psoas Muscle	Psoas
3	chr1:211747200-211750800	Weak transcription	Spleen	Spleen
4	chr1:211747400-211750800	Weak transcription	Esophagus	oesophagus
5	chr1:211747600-211750600	Weak transcription	Right Ventricle	heart
6	chr1:211748000-211750400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:211748200-211750600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:211748400-211750600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:211748600-211753200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:211748800-211750600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:211748800-211751000	Active TSS	Right Atrium	heart
12	chr1:211748800-211751400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:211749000-211750400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:211749000-211750400	Weak transcription	Thymus	Thymus
15	chr1:211749000-211750600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:211749000-211750600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:211749000-211750800	Active TSS	Fetal Intestine Small	intestine
18	chr1:211749000-211753400	Active TSS	Aorta	Aorta
19	chr1:211749000-211753400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr1:211749200-211750400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:211749200-211750800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:211749400-211750200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr1:211749400-211750200	Weak transcription	Brain Substantia Nigra	brain
24	chr1:211749400-211750400	Active TSS	Fetal Brain Female	brain
25	chr1:211749400-211750600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr1:211749400-211750600	Active TSS	Brain Anterior Caudate	brain
27	chr1:211749400-211750600	Active TSS	Brain Hippocampus Middle	brain
28	chr1:211749400-211750600	Weak transcription	Placenta	Placenta
29	chr1:211749400-211750800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr1:211749400-211751400	Active TSS	Stomach Smooth Muscle	stomach
31	chr1:211749400-211753200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr1:211749400-211753200	Active TSS	Fetal Stomach	stomach
33	chr1:211749400-211753200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:211749400-211753400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:211749600-211750200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:211749600-211750200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:211749600-211750200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:211749600-211750200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:211749600-211750200	Weak transcription	Brain Angular Gyrus	brain
40	chr1:211749600-211750400	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr1:211749600-211750400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:211749600-211750400	Enhancers	Fetal Lung	lung
43	chr1:211749600-211750400	Weak transcription	Fetal Thymus	thymus
44	chr1:211749600-211750400	Weak transcription	Stomach Mucosa	stomach
45	chr1:211749600-211750600	Enhancers	Primary B cells from cord blood	blood
46	chr1:211749600-211750600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:211749600-211750600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:211749600-211750600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:211749600-211750600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:211749600-211750600	Flanking Active TSS	HUVEC	blood vessel

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