Variant report

Variant	rs11112007
Chromosome Location	chr12:104751554-104751555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104751057..104751830-chr8:122580729..122581607,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10861205	0.96[EUR][1000 genomes]
rs10861206	0.96[EUR][1000 genomes]
rs10861208	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10861209	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10861210	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10861211	0.89[EUR][1000 genomes]
rs11112006	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11609469	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17202520	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4436618	0.90[EUR][1000 genomes]
rs4964788	0.89[EUR][1000 genomes]
rs7953266	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7977410	0.94[EUR][1000 genomes]
rs7977553	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7978051	0.86[AMR][1000 genomes];0.96[EUR][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	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104721800-104760000	Weak transcription	Stomach Mucosa	stomach
2	chr12:104728800-104755000	Weak transcription	Fetal Heart	heart
3	chr12:104744800-104752000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:104745000-104752200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:104745000-104761400	Weak transcription	Psoas Muscle	Psoas
6	chr12:104745400-104754000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:104745800-104754000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:104746000-104756800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:104746200-104754600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:104746200-104754800	Weak transcription	Hela-S3	cervix
11	chr12:104746200-104761200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:104746200-104763000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:104746400-104752200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:104747600-104752400	Weak transcription	NHEK	skin
15	chr12:104747800-104756000	Weak transcription	Aorta	Aorta
16	chr12:104748400-104761000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:104748600-104752800	Weak transcription	K562	blood
18	chr12:104749000-104753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:104749000-104754000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:104749000-104754000	Weak transcription	Spleen	Spleen
21	chr12:104749000-104755000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:104749000-104758600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:104749000-104762800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:104749000-104763200	Weak transcription	Primary T cells from cord blood	blood
25	chr12:104749000-104765800	Weak transcription	Thymus	Thymus
26	chr12:104749200-104751600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:104749200-104751600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:104749200-104751800	Weak transcription	NHDF-Ad	bronchial
29	chr12:104749200-104755200	Weak transcription	Left Ventricle	heart
30	chr12:104749200-104755200	Weak transcription	Osteobl	bone
31	chr12:104749200-104763000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:104749200-104763400	Weak transcription	HUVEC	blood vessel
33	chr12:104749400-104752000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:104749600-104753000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:104749800-104769400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:104750400-104764800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:104750600-104754000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:104751400-104752200	Weak transcription	Placenta	Placenta
39	chr12:104751400-104752800	Genic enhancers	A549	lung
40	chr12:104751400-104761000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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