Variant report

Variant	rs58011369
Chromosome Location	chr1:154519388-154519389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154513576..154515825-chr1:154518759..154521018,2	MCF-7	breast:
2	chr1:154452083..154453020-chr1:154518576..154519521,9	MCF-7	breast:
3	chr1:154492512..154494566-chr1:154517506..154520411,2	K562	blood:
4	chr1:154452157..154452965-chr1:154518548..154519523,6	MCF-7	breast:
5	chr1:154451939..154452957-chr1:154518596..154519535,7	K562	blood:
6	chr1:154506485..154507327-chr1:154518551..154519464,7	MCF-7	breast:
7	chr1:154463006..154464587-chr1:154519369..154521445,2	K562	blood:

Variant related genes	Relation type
ENSG00000163239	Chromatin interaction
ENSG00000273110	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16836074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56860243	0.91[AFR][1000 genomes]
rs72999450	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73018290	0.96[AFR][1000 genomes]
rs73020245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73022025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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 target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154492800-154521400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:154497600-154521200	Weak transcription	Spleen	Spleen
3	chr1:154513600-154528400	Weak transcription	Right Atrium	heart
4	chr1:154514200-154519400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:154515400-154521400	Weak transcription	Esophagus	oesophagus
6	chr1:154516000-154521400	Weak transcription	Gastric	stomach
7	chr1:154516400-154520000	Weak transcription	Right Ventricle	heart
8	chr1:154516400-154520800	Weak transcription	Adipose Nuclei	Adipose
9	chr1:154516400-154521200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:154516400-154521200	Weak transcription	HUVEC	blood vessel
11	chr1:154516600-154521400	Weak transcription	Lung	lung
12	chr1:154516800-154519800	Weak transcription	Pancreas	Pancrea
13	chr1:154516800-154521600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:154517000-154519400	Weak transcription	Brain Germinal Matrix	brain
15	chr1:154517000-154521400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:154517000-154521600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:154517400-154521000	Weak transcription	GM12878-XiMat	blood
18	chr1:154517400-154521200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:154517400-154521400	Weak transcription	Fetal Stomach	stomach
20	chr1:154517600-154521200	Weak transcription	NH-A	brain
21	chr1:154517600-154523600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:154517800-154519400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:154517800-154520000	Weak transcription	Placenta	Placenta
24	chr1:154517800-154520400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:154517800-154521200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:154517800-154521200	Weak transcription	HSMM	muscle
27	chr1:154517800-154521400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:154518000-154521200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:154518000-154521200	Weak transcription	Fetal Brain Female	brain
30	chr1:154518000-154526000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr1:154518200-154520400	Weak transcription	Colonic Mucosa	Colon
32	chr1:154518200-154520800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:154518200-154521000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:154518200-154521400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:154518400-154520800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:154518400-154521200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:154518600-154521400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:154518600-154521400	Weak transcription	Thymus	Thymus
39	chr1:154518600-154521600	Weak transcription	NHLF	lung
40	chr1:154518600-154521800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:154518800-154520800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:154518800-154521200	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:154518800-154521400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:154518800-154521400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:154518800-154521400	Weak transcription	NHDF-Ad	bronchial
46	chr1:154518800-154521600	Weak transcription	Aorta	Aorta
47	chr1:154518800-154521600	Weak transcription	Hela-S3	cervix
48	chr1:154518800-154521800	Weak transcription	Fetal Brain Male	brain
49	chr1:154519000-154519400	Enhancers	NHEK	skin
50	chr1:154519000-154520000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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