Variant report

Variant	rs56751503
Chromosome Location	chr12:50183078-50183079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50181461..50183796-chr12:50216518..50220004,3	MCF-7	breast:
2	chr12:50178156..50180784-chr12:50182725..50184886,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10875977	1.00[ASN][1000 genomes]
rs11169164	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169165	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169171	1.00[ASN][1000 genomes]
rs12315844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321190	1.00[ASN][1000 genomes]
rs17123990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57832845	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61691368	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137037	1.00[ASN][1000 genomes]
rs7137262	1.00[ASN][1000 genomes]
rs7313739	1.00[ASN][1000 genomes]
rs73309047	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309054	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309090	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73310907	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968164	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50160600-50183400	Weak transcription	Primary T cells from cord blood	blood
2	chr12:50170000-50184800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:50170200-50184400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:50170800-50191200	Weak transcription	Brain Substantia Nigra	brain
5	chr12:50172000-50183400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:50172400-50183800	Weak transcription	Pancreas	Pancrea
7	chr12:50172400-50192600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:50172800-50184600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:50174400-50209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:50177400-50183800	Weak transcription	Liver	Liver
11	chr12:50177800-50183200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:50177800-50203400	Weak transcription	Fetal Kidney	kidney
13	chr12:50178200-50184400	Weak transcription	Aorta	Aorta
14	chr12:50178400-50183400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:50178400-50184600	Weak transcription	Ovary	ovary
16	chr12:50178400-50194000	Weak transcription	NH-A	brain
17	chr12:50178400-50195000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:50178600-50183400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:50178600-50183400	Weak transcription	Adipose Nuclei	Adipose
20	chr12:50178600-50183400	Weak transcription	Psoas Muscle	Psoas
21	chr12:50178600-50184400	Weak transcription	Spleen	Spleen
22	chr12:50178600-50185600	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:50178800-50183200	Weak transcription	Placenta	Placenta
24	chr12:50178800-50183400	Weak transcription	Fetal Stomach	stomach
25	chr12:50178800-50183400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:50178800-50183400	Weak transcription	NHLF	lung
27	chr12:50178800-50183600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr12:50178800-50184400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:50178800-50184600	Weak transcription	Right Ventricle	heart
30	chr12:50178800-50185200	Weak transcription	Fetal Thymus	thymus
31	chr12:50178800-50191600	Weak transcription	NHDF-Ad	bronchial
32	chr12:50179000-50183400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr12:50179000-50183400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:50179000-50183800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:50179000-50183800	Weak transcription	Left Ventricle	heart
36	chr12:50179000-50184400	Weak transcription	Lung	lung
37	chr12:50179000-50184600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:50179200-50183400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:50179200-50183400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:50179200-50183400	Weak transcription	HSMMtube	muscle
41	chr12:50179200-50213600	Weak transcription	Hela-S3	cervix
42	chr12:50179600-50183800	Weak transcription	HUVEC	blood vessel
43	chr12:50179600-50195200	Weak transcription	Fetal Brain Male	brain
44	chr12:50180400-50189000	Weak transcription	NHEK	skin
45	chr12:50180600-50183400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:50180600-50185000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:50181000-50183600	Weak transcription	Dnd41	blood
48	chr12:50181000-50184800	Weak transcription	Fetal Intestine Small	intestine
49	chr12:50181200-50184400	Weak transcription	Thymus	Thymus
50	chr12:50181600-50189200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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