Variant report

Variant	rs55965024
Chromosome Location	chr12:64310719-64310720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64293610..64297579-chr12:64304786..64312543,7	MCF-7	breast:
2	chr12:64305161..64306959-chr12:64308918..64311301,3	MCF-7	breast:
3	chr12:64303636..64306822-chr12:64307668..64311804,5	MCF-7	breast:
4	chr12:64238221..64239900-chr12:64310554..64313315,2	MCF-7	breast:
5	chr12:64310483..64312112-chr12:64797613..64799953,2	K562	blood:
6	chr12:64237844..64239569-chr12:64309406..64311798,2	MCF-7	breast:
7	chr12:64303122..64304699-chr12:64310399..64312140,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184575	Chromatin interaction
ENSG00000196935	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11175203	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175204	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251126	1.00[ASN][1000 genomes]
rs2954910	1.00[ASN][1000 genomes]
rs56206744	1.00[ASN][1000 genomes]
rs61933087	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933088	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933089	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933090	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933092	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61935958	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937060	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937062	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937063	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61937064	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937065	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937066	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113978	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126646	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73313480	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64283200-64312200	Weak transcription	Left Ventricle	heart
2	chr12:64298800-64334000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:64306200-64314200	Enhancers	Fetal Intestine Small	intestine
4	chr12:64306400-64314000	Enhancers	Fetal Intestine Large	intestine
5	chr12:64306800-64313200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:64307000-64310800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:64307400-64313000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:64307800-64311400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr12:64307800-64311600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:64307800-64311800	Flanking Active TSS	A549	lung
11	chr12:64307800-64312200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:64307800-64313200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:64307800-64314200	Enhancers	Fetal Brain Male	brain
14	chr12:64308000-64314000	Enhancers	Stomach Mucosa	stomach
15	chr12:64308200-64311200	Weak transcription	Liver	Liver
16	chr12:64308400-64311800	Enhancers	Colon Smooth Muscle	Colon
17	chr12:64308400-64314800	Enhancers	HMEC	breast
18	chr12:64308600-64311400	Enhancers	NH-A	brain
19	chr12:64308800-64310800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:64308800-64311600	Weak transcription	Brain Germinal Matrix	brain
21	chr12:64308800-64314200	Enhancers	HSMM	muscle
22	chr12:64309000-64311000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:64309000-64311000	Enhancers	Rectal Smooth Muscle	rectum
24	chr12:64309000-64312600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:64309000-64312600	Enhancers	Brain Hippocampus Middle	brain
26	chr12:64309000-64312800	Enhancers	Brain Anterior Caudate	brain
27	chr12:64309000-64312800	Enhancers	Fetal Lung	lung
28	chr12:64309000-64313000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr12:64309200-64313000	Enhancers	Fetal Kidney	kidney
30	chr12:64309200-64313200	Enhancers	Adipose Nuclei	Adipose
31	chr12:64309200-64314000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:64309400-64311200	Weak transcription	Fetal Brain Female	brain
33	chr12:64309400-64311200	Enhancers	Stomach Smooth Muscle	stomach
34	chr12:64309400-64312000	Enhancers	HepG2	liver
35	chr12:64309400-64313000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:64309400-64313000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:64309400-64313200	Enhancers	Colonic Mucosa	Colon
38	chr12:64309400-64313400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:64309400-64313600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:64309400-64313800	Enhancers	Small Intestine	intestine
41	chr12:64309400-64314200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:64309600-64311600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:64309600-64312600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:64309600-64314000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:64309800-64310800	Enhancers	Aorta	Aorta
46	chr12:64309800-64311200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:64309800-64311600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:64309800-64312200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:64309800-64312200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:64309800-64312200	Enhancers	Duodenum Mucosa	Duodenum

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