Variant report

Variant	rs28819678
Chromosome Location	chr5:179086753-179086754
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179085589..179087601-chr5:179105143..179107865,2	MCF-7	breast:
2	chr5:179048484..179051740-chr5:179086105..179090360,4	MCF-7	breast:
3	chr5:179085719..179088021-chr5:179125069..179127270,2	K562	blood:
4	chr5:179085577..179087271-chr5:179159837..179161552,2	K562	blood:
5	chr5:179047959..179050192-chr5:179084037..179087067,3	K562	blood:
6	chr5:179085578..179087269-chr5:179124562..179126084,2	MCF-7	breast:
7	chr5:179048487..179050192-chr5:179084037..179087067,3	K562	blood:

Variant related genes	Relation type
ENSG00000225051	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000127022	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11738663	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28796419	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv883273	chr5:179045142-179086833	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	nsv1021275	chr5:179056475-179104588	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1031352	chr5:179082461-179104588	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1023502	chr5:179086091-179105316	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr5:179085800-179086800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:179085800-179087000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:179085800-179087000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr5:179085800-179087000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:179085800-179090000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:179085800-179090000	Weak transcription	Lung	lung
7	chr5:179085800-179090200	Weak transcription	Adipose Nuclei	Adipose
8	chr5:179085800-179090400	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:179085800-179090600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:179085800-179090800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:179085800-179090800	Weak transcription	Fetal Lung	lung
12	chr5:179085800-179090800	Weak transcription	Gastric	stomach
13	chr5:179085800-179090800	Weak transcription	Ovary	ovary
14	chr5:179085800-179091200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:179085800-179091200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:179085800-179091200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:179085800-179091200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:179085800-179091400	Weak transcription	Spleen	Spleen
19	chr5:179085800-179092000	Weak transcription	Colonic Mucosa	Colon
20	chr5:179085800-179092200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr5:179085800-179092200	Weak transcription	Thymus	Thymus
22	chr5:179085800-179099200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:179085800-179099400	Weak transcription	Aorta	Aorta
24	chr5:179085800-179103800	Weak transcription	GM12878-XiMat	blood
25	chr5:179085800-179104000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:179085800-179104200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:179085800-179104200	Weak transcription	A549	lung
28	chr5:179085800-179104600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:179085800-179104600	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:179085800-179104600	Weak transcription	Esophagus	oesophagus
31	chr5:179085800-179104600	Weak transcription	Fetal Kidney	kidney
32	chr5:179085800-179104800	Weak transcription	Right Ventricle	heart
33	chr5:179085800-179105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:179086000-179086800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr5:179086000-179088600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:179086000-179090000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr5:179086000-179090000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:179086000-179090200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:179086000-179090200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:179086000-179090400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr5:179086000-179090400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:179086000-179090400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:179086000-179090400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr5:179086000-179090600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:179086000-179090600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr5:179086000-179090600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:179086000-179090800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:179086000-179091000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:179086000-179091000	Weak transcription	Left Ventricle	heart
50	chr5:179086000-179091000	Weak transcription	Rectal Mucosa Donor 29	rectum

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