Variant report

Variant	rs74060475
Chromosome Location	chr12:9271636-9271637
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	chr12:9215493..9217658-chr12:9271346..9273980,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16917969	1.00[EUR][1000 genomes]
rs16917975	1.00[AMR][1000 genomes]
rs16918015	1.00[EUR][1000 genomes]
rs16918023	1.00[EUR][1000 genomes]
rs16918033	1.00[AMR][1000 genomes]
rs16918120	1.00[AMR][1000 genomes]
rs16918292	1.00[AMR][1000 genomes]
rs1805748	1.00[AMR][1000 genomes]
rs1805764	1.00[AMR][1000 genomes]
rs1805769	1.00[AMR][1000 genomes]
rs226409	1.00[EUR][1000 genomes]
rs226412	1.00[EUR][1000 genomes]
rs226413	1.00[EUR][1000 genomes]
rs56016864	1.00[EUR][1000 genomes]
rs56966204	1.00[AMR][1000 genomes]
rs58537365	1.00[AMR][1000 genomes]
rs59792548	1.00[AMR][1000 genomes]
rs60190629	1.00[AMR][1000 genomes]
rs7297635	1.00[AMR][1000 genomes]
rs7298071	1.00[EUR][1000 genomes]
rs7303415	1.00[EUR][1000 genomes]
rs7304882	1.00[AMR][1000 genomes]
rs74060300	1.00[AMR][1000 genomes]
rs74060302	1.00[AMR][1000 genomes]
rs74060477	1.00[AMR][1000 genomes]
rs74060491	1.00[AMR][1000 genomes]
rs74060548	1.00[EUR][1000 genomes]
rs74060552	1.00[EUR][1000 genomes]
rs74061403	1.00[AMR][1000 genomes]
rs74061408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061424	1.00[EUR][1000 genomes]
rs74061444	1.00[AMR][1000 genomes]
rs7980046	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	esv3504674	chr12:9243858-9318016	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3502154	chr12:9243906-9317851	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3502155	chr12:9243906-9317851	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3504685	chr12:9243948-9317959	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv527404	chr12:9250601-9435244	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9243000-9274800	Weak transcription	Small Intestine	intestine
2	chr12:9262800-9289000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:9266200-9274800	Weak transcription	Gastric	stomach
4	chr12:9267800-9272200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:9268200-9271800	Enhancers	HMEC	breast
6	chr12:9268200-9272200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:9268400-9271800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:9268400-9274400	Weak transcription	Fetal Intestine Large	intestine
9	chr12:9269000-9277400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:9269000-9280400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:9269000-9319200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:9269200-9275800	Weak transcription	Brain Angular Gyrus	brain
13	chr12:9269200-9280400	Weak transcription	Primary T cells from cord blood	blood
14	chr12:9269200-9281800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:9269400-9273400	Enhancers	Adipose Nuclei	Adipose
16	chr12:9269400-9274800	Weak transcription	Brain Substantia Nigra	brain
17	chr12:9269400-9276000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:9269400-9276400	Weak transcription	Right Ventricle	heart
19	chr12:9269800-9274400	Enhancers	HepG2	liver
20	chr12:9269800-9276000	Weak transcription	Brain Anterior Caudate	brain
21	chr12:9270000-9272800	Enhancers	Colon Smooth Muscle	Colon
22	chr12:9270000-9276000	Weak transcription	Fetal Stomach	stomach
23	chr12:9270000-9278800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:9270200-9274800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:9270200-9289000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:9270800-9271800	Enhancers	NHDF-Ad	bronchial
27	chr12:9271000-9271800	Enhancers	HSMMtube	muscle
28	chr12:9271000-9272400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:9271000-9272600	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:9271000-9276000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:9271000-9276200	Weak transcription	Ovary	ovary
32	chr12:9271200-9271800	Weak transcription	Fetal Thymus	thymus
33	chr12:9271200-9272800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:9271200-9273400	Weak transcription	Left Ventricle	heart
35	chr12:9271200-9275800	Weak transcription	Right Atrium	heart
36	chr12:9271200-9276800	Weak transcription	Psoas Muscle	Psoas
37	chr12:9271200-9276800	Weak transcription	Spleen	Spleen
38	chr12:9271400-9272000	Enhancers	Primary hematopoietic stem cells	blood
39	chr12:9271400-9272800	Enhancers	Stomach Smooth Muscle	stomach
40	chr12:9271400-9274400	Enhancers	Fetal Lung	lung
41	chr12:9271600-9272000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr12:9271600-9272000	Enhancers	Liver	Liver
43	chr12:9271600-9272200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:9271600-9272200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr12:9271600-9272200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr12:9271600-9273000	Enhancers	Aorta	Aorta
47	chr12:9271600-9274600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:9271600-9274800	Weak transcription	NHLF	lung
49	chr12:9271600-9276000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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