Variant report

Variant	rs12055195
Chromosome Location	chr5:96370118-96370119
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96363615..96366416-chr5:96368478..96370655,4	K562	blood:
2	chr5:96143095..96145345-chr5:96368495..96370243,2	K562	blood:
3	chr5:96368923..96370655-chr5:96373803..96376582,2	MCF-7	breast:
4	chr5:96368181..96370505-chr5:96424548..96426827,2	K562	blood:
5	chr5:96367838..96370806-chr5:96371890..96374620,2	K562	blood:

Variant related genes	Relation type
ENSG00000251606	Chromatin interaction
ENSG00000164307	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10515255	1.00[ASN][1000 genomes]
rs11135492	1.00[ASN][1000 genomes]
rs11950429	1.00[ASN][1000 genomes]
rs11953510	1.00[ASN][1000 genomes]
rs12187005	1.00[ASN][1000 genomes]
rs12188395	1.00[ASN][1000 genomes]
rs13158924	1.00[ASN][1000 genomes]
rs13176081	1.00[ASN][1000 genomes]
rs1592764	1.00[ASN][1000 genomes]
rs17629683	1.00[ASN][1000 genomes]
rs35263065	1.00[ASN][1000 genomes]
rs35648410	1.00[ASN][1000 genomes]
rs35715451	1.00[ASN][1000 genomes]
rs36091077	1.00[ASN][1000 genomes]
rs59936742	1.00[ASN][1000 genomes]
rs62377109	1.00[ASN][1000 genomes]
rs72775862	1.00[ASN][1000 genomes]
rs72777604	1.00[ASN][1000 genomes]
rs72777610	1.00[ASN][1000 genomes]
rs7341048	1.00[ASN][1000 genomes]
rs7703709	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96315400-96374800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:96333600-96374000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:96333800-96372800	Strong transcription	Placenta	Placenta
4	chr5:96342600-96374400	Weak transcription	HepG2	liver
5	chr5:96346600-96372600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr5:96347000-96373600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:96348400-96372400	Strong transcription	Fetal Thymus	thymus
8	chr5:96348400-96374600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:96351400-96379000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:96352200-96372600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:96355800-96372200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:96357800-96373800	Strong transcription	Adipose Nuclei	Adipose
13	chr5:96358000-96372800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:96358000-96373000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:96358200-96372400	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr5:96358200-96372400	Strong transcription	Dnd41	blood
17	chr5:96358800-96372400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:96358800-96374000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:96359000-96370400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:96359000-96373400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:96359000-96373600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:96359200-96372400	Strong transcription	Primary B cells from cord blood	blood
23	chr5:96359200-96373800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:96360400-96371600	Weak transcription	Hela-S3	cervix
25	chr5:96360600-96378600	Weak transcription	Gastric	stomach
26	chr5:96360800-96374400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:96360800-96379400	Weak transcription	Psoas Muscle	Psoas
28	chr5:96361000-96374600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:96361000-96378000	Weak transcription	Aorta	Aorta
30	chr5:96361800-96378800	Weak transcription	Fetal Heart	heart
31	chr5:96363400-96378000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:96363800-96370600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr5:96364400-96374400	Weak transcription	Brain Angular Gyrus	brain
34	chr5:96364600-96373400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:96364600-96373600	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:96364600-96374800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:96364600-96383400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:96364800-96371400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:96364800-96371800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:96364800-96372000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr5:96364800-96373200	Weak transcription	Brain Anterior Caudate	brain
42	chr5:96364800-96373400	Weak transcription	Spleen	Spleen
43	chr5:96364800-96373600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:96364800-96374600	Weak transcription	Fetal Intestine Small	intestine
45	chr5:96364800-96374800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:96364800-96375000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr5:96364800-96375400	Weak transcription	Esophagus	oesophagus
48	chr5:96364800-96375400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:96364800-96375600	Weak transcription	NHEK	skin
50	chr5:96364800-96377600	Weak transcription	Fetal Kidney	kidney

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