Variant report

Variant	rs7979360
Chromosome Location	chr12:48297792-48297793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48221119..48223794-chr12:48297710..48299941,2	MCF-7	breast:
2	chr12:48133250..48135553-chr12:48296742..48299315,2	K562	blood:
3	chr12:48290491..48293041-chr12:48295549..48298546,2	K562	blood:
4	chr12:48141724..48144633-chr12:48296342..48298575,2	K562	blood:
5	chr12:48167510..48169147-chr12:48296564..48298713,2	MCF-7	breast:
6	chr12:48297320..48300707-chr12:48356346..48358827,3	MCF-7	breast:
7	chr12:48296295..48301288-chr12:48356017..48360451,6	MCF-7	breast:
8	chr12:48297604..48298533-chr17:79669555..79670407,2	Hela-S3	cervix:
9	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
10	chr12:48296929..48299891-chr12:48498540..48500341,2	MCF-7	breast:
11	chr12:48245078..48247874-chr12:48296202..48297981,2	K562	blood:
12	chr12:48276120..48279378-chr12:48295337..48299363,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000262660	Chromatin interaction
ENSG00000262814	Chromatin interaction
ENSG00000262049	Chromatin interaction
ENSG00000257488	Chromatin interaction
ENSG00000134291	Chromatin interaction
ENSG00000079337	Chromatin interaction
ENSG00000079387	Chromatin interaction
ENSG00000183048	Chromatin interaction
ENSG00000152556	Chromatin interaction
ENSG00000205537	Chromatin interaction
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10875698	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10875700	0.93[YRI][hapmap]
rs10875702	0.93[YRI][hapmap]
rs11168302	0.96[YRI][hapmap]
rs11168303	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11168304	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4077869	0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4402365	0.85[YRI][hapmap]
rs4411327	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4514490	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58915362	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7302038	0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7970168	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7975847	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48286800-48298000	Weak transcription	Right Atrium	heart
2	chr12:48293400-48297800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr12:48293400-48297800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:48293400-48298200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr12:48293400-48298400	Enhancers	Gastric	stomach
6	chr12:48293400-48298400	Enhancers	Stomach Mucosa	stomach
7	chr12:48293600-48297800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:48293600-48297800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:48294200-48298800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr12:48294400-48298200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:48294400-48299000	Enhancers	Spleen	Spleen
12	chr12:48294600-48297800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr12:48295600-48297800	Flanking Active TSS	HMEC	breast
14	chr12:48296000-48297800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:48296200-48297800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:48296400-48297800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:48296400-48297800	Flanking Active TSS	NHDF-Ad	bronchial
18	chr12:48296400-48298400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:48296600-48297800	Flanking Active TSS	NHLF	lung
20	chr12:48296600-48298200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:48296600-48298200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:48296600-48298200	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr12:48296600-48298200	Flanking Active TSS	HSMM	muscle
24	chr12:48296600-48298400	Flanking Active TSS	Osteobl	bone
25	chr12:48296800-48297800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr12:48296800-48297800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:48296800-48297800	Flanking Active TSS	NHEK	skin
28	chr12:48296800-48298000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr12:48296800-48298400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr12:48296800-48298400	Flanking Active TSS	Hela-S3	cervix
31	chr12:48296800-48298600	Flanking Active TSS	NH-A	brain
32	chr12:48296800-48298800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr12:48296800-48298800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:48297000-48297800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:48297000-48297800	Enhancers	Placenta	Placenta
36	chr12:48297000-48298000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:48297000-48298200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:48297000-48298200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr12:48297000-48298200	Bivalent Enhancer	Brain Hippocampus Middle	brain
40	chr12:48297000-48298200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr12:48297000-48298400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:48297000-48298600	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr12:48297000-48298800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:48297000-48298800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr12:48297000-48299600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr12:48297200-48297800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:48297200-48297800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
48	chr12:48297200-48297800	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr12:48297200-48297800	Enhancers	HUVEC	blood vessel
50	chr12:48297200-48298000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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