Variant report

Variant	rs12424255
Chromosome Location	chr12:106625477-106625478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106622589..106625717-chr12:106638331..106640361,3	MCF-7	breast:
2	chr12:106624850..106627248-chr12:106695973..106698694,2	MCF-7	breast:
3	chr12:106625081..106625716-chr12:106675920..106676462,2	MCF-7	breast:
4	chr12:106616826..106619612-chr12:106623488..106625547,2	K562	blood:

Variant related genes	Relation type
ENSG00000136026	Chromatin interaction
ENSG00000166046	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12424487	0.82[EUR][1000 genomes]
rs12426038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426351	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427390	1.00[AFR][1000 genomes]
rs17216556	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35134798	1.00[ASN][1000 genomes]
rs3759303	1.00[ASN][1000 genomes]
rs3782700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830730	chr12:106621530-106642222	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1839947	chr12:106622186-106642064	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1797996	chr12:106622186-106642222	Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106606600-106626400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:106618000-106632000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:106618000-106632200	Weak transcription	Psoas Muscle	Psoas
4	chr12:106618600-106630600	Weak transcription	Ovary	ovary
5	chr12:106618600-106632200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:106620800-106630400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:106621200-106632000	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:106621200-106632600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:106621400-106630200	Weak transcription	NHLF	lung
10	chr12:106621400-106632600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:106621400-106638200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:106621600-106626600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:106621600-106630400	Weak transcription	HSMM	muscle
14	chr12:106621600-106630600	Weak transcription	Liver	Liver
15	chr12:106621600-106630600	Weak transcription	A549	lung
16	chr12:106621600-106631400	Weak transcription	Adipose Nuclei	Adipose
17	chr12:106621600-106631800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:106621600-106632600	Weak transcription	Colonic Mucosa	Colon
19	chr12:106621600-106632800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:106621800-106627600	Weak transcription	Esophagus	oesophagus
21	chr12:106621800-106628000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:106621800-106628600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:106621800-106629200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:106621800-106629600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:106621800-106629800	Weak transcription	Stomach Mucosa	stomach
26	chr12:106621800-106630400	Weak transcription	Fetal Lung	lung
27	chr12:106621800-106630600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:106621800-106630600	Weak transcription	Spleen	Spleen
29	chr12:106621800-106631800	Weak transcription	Gastric	stomach
30	chr12:106621800-106631800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:106621800-106632800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:106622000-106626600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:106622000-106627800	Weak transcription	NHEK	skin
34	chr12:106622000-106629000	Weak transcription	Fetal Heart	heart
35	chr12:106622000-106629200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:106622000-106630000	Weak transcription	Brain Germinal Matrix	brain
37	chr12:106622000-106630600	Weak transcription	Lung	lung
38	chr12:106622000-106632200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:106622200-106628000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:106622200-106632000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:106622200-106639000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:106622200-106639600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:106622400-106625600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr12:106622400-106627400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:106622400-106632200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr12:106622400-106632800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:106623200-106628000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr12:106624400-106633000	Weak transcription	Aorta	Aorta
49	chr12:106624800-106625600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr12:106624800-106625600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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