Variant report

Variant	rs73423598
Chromosome Location	chr8:131376631-131376632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131374605..131377133-chr8:131378600..131381227,2	K562	blood:
2	chr8:131371033..131372653-chr8:131376514..131378216,2	MCF-7	breast:
3	chr8:131372190..131373878-chr8:131374585..131376826,2	K562	blood:
4	chr8:131370636..131372390-chr8:131374796..131377434,2	K562	blood:
5	chr8:131370791..131374454-chr8:131375102..131378755,4	MCF-7	breast:
6	chr8:131334993..131336619-chr8:131375130..131377384,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57213366	1.00[AMR][1000 genomes]
rs58498075	1.00[AMR][1000 genomes]
rs58664881	1.00[AMR][1000 genomes]
rs59411017	1.00[AMR][1000 genomes]
rs61329743	1.00[AMR][1000 genomes]
rs61358542	1.00[AMR][1000 genomes]
rs61578845	1.00[AMR][1000 genomes]
rs73409347	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv1799913	chr8:131370231-131377219	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1803345	chr8:131370231-131377219	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv612290	chr8:131370231-131381098	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371400-131376800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:131371400-131382000	Weak transcription	Lung	lung
3	chr8:131371400-131391400	Weak transcription	Spleen	Spleen
4	chr8:131371600-131378600	Weak transcription	Psoas Muscle	Psoas
5	chr8:131371600-131383800	Weak transcription	Ovary	ovary
6	chr8:131371600-131386800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:131371600-131389800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
9	chr8:131371800-131376800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:131371800-131376800	Weak transcription	Adipose Nuclei	Adipose
11	chr8:131371800-131376800	Weak transcription	Fetal Intestine Large	intestine
12	chr8:131371800-131377200	Weak transcription	Primary B cells from cord blood	blood
13	chr8:131371800-131382800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:131371800-131384400	Weak transcription	Brain Germinal Matrix	brain
15	chr8:131371800-131389800	Weak transcription	Fetal Stomach	stomach
16	chr8:131371800-131390800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:131371800-131396400	Weak transcription	HepG2	liver
18	chr8:131371800-131398400	Weak transcription	Fetal Lung	lung
19	chr8:131372000-131376800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr8:131372400-131376800	Weak transcription	Thymus	Thymus
21	chr8:131373800-131382000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:131373800-131382400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:131373800-131387400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:131373800-131389600	Weak transcription	Placenta	Placenta
25	chr8:131374000-131377000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:131374600-131376800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:131374600-131378000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:131374600-131378400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:131374600-131382000	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:131374600-131384200	Weak transcription	Fetal Brain Male	brain
31	chr8:131374600-131390600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
33	chr8:131374800-131379800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:131375000-131378400	Weak transcription	HSMMtube	muscle
35	chr8:131376000-131377600	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr8:131376000-131377600	Enhancers	NHLF	lung
37	chr8:131376000-131377800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr8:131376000-131378200	Enhancers	HMEC	breast
39	chr8:131376000-131379800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr8:131376400-131376800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:131376400-131377000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:131376400-131377000	Enhancers	GM12878-XiMat	blood
43	chr8:131376400-131377000	Genic enhancers	NHEK	skin
44	chr8:131376400-131378800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr8:131376400-131378800	Enhancers	Hela-S3	cervix
46	chr8:131376400-131379000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:131376400-131379000	Enhancers	A549	lung
48	chr8:131376400-131379200	Enhancers	NHDF-Ad	bronchial
49	chr8:131376400-131381200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:131376400-131381200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links