Variant report

Variant	rs72811138
Chromosome Location	chr5:179925759-179925760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179923854..179927597-chr5:179974532..179977818,3	MCF-7	breast:
2	chr5:179924830..179925800-chr7:65958004..65958762,2	NB4	blood:
3	chr5:179922992..179929395-chr5:179931202..179936163,8	K562	blood:
4	chr5:179925134..179926691-chr5:179928454..179930583,2	K562	blood:
5	chr5:179925282..179927939-chr5:180022784..180024577,2	K562	blood:

Variant related genes	Relation type
ENSG00000237310	Chromatin interaction
ENSG00000223473	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1043287	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55673143	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55688275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55999117	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56231520	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56318449	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56357267	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61740192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405546	1.00[ASN][1000 genomes]
rs72811134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811158	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811160	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811161	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811164	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811166	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811168	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812928	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812934	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812935	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812937	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812939	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812941	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812944	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812945	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812946	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812949	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812951	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812957	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812960	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812965	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812966	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812969	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812971	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812973	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812978	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812979	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812980	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812981	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812983	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812984	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814954	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814958	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814971	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814974	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814977	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814986	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814988	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814991	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72815000	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816959	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816960	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816961	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816964	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816965	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816968	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816970	0.82[EUR][1000 genomes]
rs72816972	0.82[EUR][1000 genomes]
rs7728141	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1023537	chr5:179791679-179982822	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv537985	chr5:179791679-179982822	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1019519	chr5:179866730-179959408	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179923000-179934600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:179923200-179925800	Weak transcription	Esophagus	oesophagus
3	chr5:179923200-179926200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:179923200-179926400	Weak transcription	Stomach Mucosa	stomach
5	chr5:179923200-179926600	Weak transcription	HSMMtube	muscle
6	chr5:179923200-179928400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr5:179923200-179936400	Weak transcription	Fetal Intestine Large	intestine
8	chr5:179923400-179926800	Weak transcription	Small Intestine	intestine
9	chr5:179923400-179927200	Genic enhancers	K562	blood
10	chr5:179923400-179946000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:179923600-179925800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:179923600-179926400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:179923600-179926600	Weak transcription	Primary B cells from cord blood	blood
14	chr5:179923600-179926600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:179923600-179926600	Weak transcription	Adipose Nuclei	Adipose
16	chr5:179923600-179927400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:179923600-179927600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:179923600-179928000	Genic enhancers	Dnd41	blood
19	chr5:179923600-179928600	Weak transcription	HUVEC	blood vessel
20	chr5:179923600-179929600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:179923600-179930400	Weak transcription	NHLF	lung
22	chr5:179923600-179931200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr5:179923600-179932800	Weak transcription	Right Ventricle	heart
24	chr5:179923600-179933400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:179923600-179933800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:179923600-179934400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:179923600-179934400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr5:179923600-179942000	Weak transcription	Spleen	Spleen
29	chr5:179923600-179949800	Weak transcription	Gastric	stomach
30	chr5:179923600-179949800	Weak transcription	Psoas Muscle	Psoas
31	chr5:179923600-179957000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:179923800-179926000	Strong transcription	Fetal Stomach	stomach
33	chr5:179923800-179926600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:179923800-179927200	Weak transcription	Placenta	Placenta
35	chr5:179923800-179927800	Strong transcription	Fetal Brain Female	brain
36	chr5:179923800-179928600	Weak transcription	Fetal Kidney	kidney
37	chr5:179923800-179929200	Weak transcription	NHDF-Ad	bronchial
38	chr5:179923800-179931000	Weak transcription	Osteobl	bone
39	chr5:179923800-179932800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr5:179923800-179933000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:179923800-179934600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:179923800-179935400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:179923800-179941200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:179924000-179925800	Enhancers	HMEC	breast
45	chr5:179924000-179926400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:179924000-179926400	Genic enhancers	NHEK	skin
47	chr5:179924000-179926600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:179924000-179926600	Weak transcription	Brain Substantia Nigra	brain
49	chr5:179924000-179927400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr5:179924000-179928200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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