Variant report

Variant	rs201939666
Chromosome Location	chr12:48749761-48749762
allele	-/AGA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48745005..48747497-chr12:48748045..48749773,2	K562	blood:
2	chr12:48735709..48737484-chr12:48748152..48750019,2	MCF-7	breast:
3	chr12:48748002..48749847-chr12:48758555..48760339,2	K562	blood:
4	chr12:48740296..48746434-chr12:48748194..48754526,9	MCF-7	breast:
5	chr12:48741301..48746348-chr12:48747901..48753728,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257735	Chromatin interaction
ENSG00000167528	Chromatin interaction
ENSG00000269282	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv826362	chr12:48693048-48768853	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv975606	chr12:48748764-48784504	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48745400-48755800	Weak transcription	Ovary	ovary
2	chr12:48745400-48757200	Weak transcription	Right Ventricle	heart
3	chr12:48745600-48750000	Weak transcription	NHEK	skin
4	chr12:48745600-48762400	Weak transcription	Aorta	Aorta
5	chr12:48745800-48750000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:48745800-48752200	Weak transcription	Fetal Intestine Small	intestine
7	chr12:48746000-48749800	Weak transcription	A549	lung
8	chr12:48746000-48750200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:48746000-48750600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:48746000-48752800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:48746000-48756600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:48746200-48749800	Weak transcription	HepG2	liver
13	chr12:48746200-48754600	Weak transcription	Adipose Nuclei	Adipose
14	chr12:48746200-48756800	Weak transcription	Brain Anterior Caudate	brain
15	chr12:48746200-48757200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:48746400-48749800	Weak transcription	Hela-S3	cervix
17	chr12:48746400-48752800	Weak transcription	Left Ventricle	heart
18	chr12:48746400-48753000	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:48746400-48757800	Weak transcription	Right Atrium	heart
20	chr12:48746400-48759400	Weak transcription	Brain Substantia Nigra	brain
21	chr12:48746400-48760400	Weak transcription	Brain Angular Gyrus	brain
22	chr12:48746400-48761400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:48746600-48753400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:48746600-48755800	Weak transcription	Psoas Muscle	Psoas
25	chr12:48746600-48756400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:48746600-48762400	Weak transcription	Lung	lung
27	chr12:48746800-48751800	Weak transcription	Pancreas	Pancrea
28	chr12:48746800-48752200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:48746800-48755400	Weak transcription	K562	blood
30	chr12:48748800-48750000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:48749000-48750000	Weak transcription	HMEC	breast
32	chr12:48749600-48750800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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