Variant report

Variant	rs59230067
Chromosome Location	chr5:80530243-80530244
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80530046..80533018-chr5:80537820..80540645,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248794	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28482890	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28690592	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59628507	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60394857	1.00[EUR][1000 genomes]
rs61001312	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61051764	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73768049	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73768052	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73768054	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73768056	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73768057	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73768060	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73768067	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7732077	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80522600-80530400	Weak transcription	Primary T cells from cord blood	blood
2	chr5:80525800-80531000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:80526600-80531200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:80527000-80546200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:80528000-80564400	Weak transcription	Hela-S3	cervix
6	chr5:80528200-80531000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:80528200-80531800	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr5:80528400-80531600	Enhancers	Spleen	Spleen
9	chr5:80528600-80530400	Flanking Active TSS	Fetal Muscle Leg	muscle
10	chr5:80528600-80531400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr5:80528600-80531600	Enhancers	Fetal Thymus	thymus
12	chr5:80528600-80532000	Enhancers	Lung	lung
13	chr5:80528800-80531000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:80528800-80531400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:80528800-80531400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr5:80529000-80530800	Active TSS	Left Ventricle	heart
17	chr5:80529400-80530400	Weak transcription	Pancreas	Pancrea
18	chr5:80529400-80530400	Weak transcription	Thymus	Thymus
19	chr5:80529400-80530600	Weak transcription	Esophagus	oesophagus
20	chr5:80529400-80531400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:80529400-80531600	Weak transcription	Gastric	stomach
22	chr5:80529400-80531800	Weak transcription	Fetal Brain Female	brain
23	chr5:80529400-80532400	Weak transcription	Placenta	Placenta
24	chr5:80529400-80532400	Active TSS	Right Ventricle	heart
25	chr5:80529400-80535200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:80529400-80540800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:80529400-80541000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:80529400-80543400	Weak transcription	NHLF	lung
29	chr5:80529400-80544200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:80529400-80549400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:80529600-80530400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:80529600-80530400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:80529600-80530400	Enhancers	Colon Smooth Muscle	Colon
34	chr5:80529600-80530600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:80529600-80530600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr5:80529600-80530800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr5:80529600-80530800	Weak transcription	Fetal Intestine Small	intestine
38	chr5:80529600-80531000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:80529600-80531000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:80529600-80531000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:80529600-80531200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr5:80529600-80531200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:80529600-80531200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr5:80529600-80531200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:80529600-80531200	Weak transcription	Fetal Lung	lung
46	chr5:80529600-80531200	Enhancers	HepG2	liver
47	chr5:80529600-80531200	Weak transcription	K562	blood
48	chr5:80529600-80531400	Weak transcription	Stomach Mucosa	stomach
49	chr5:80529600-80532000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr5:80529600-80532200	Enhancers	Adipose Nuclei	Adipose

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