Variant report

Variant	rs73297491
Chromosome Location	chr12:50426435-50426436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50356903..50358406-chr12:50425731..50427880,2	MCF-7	breast:
2	chr12:50423907..50426883-chr12:50433411..50436137,3	MCF-7	breast:
3	chr12:50419178..50421274-chr12:50425998..50428027,2	MCF-7	breast:
4	chr12:50421275..50423530-chr12:50424919..50426807,2	MCF-7	breast:
5	chr12:50424922..50426868-chr12:50449675..50452142,2	K562	blood:

Variant related genes	Relation type
ENSG00000110881	Chromatin interaction
ENSG00000161800	Chromatin interaction
ENSG00000161798	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10219607	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11169238	0.87[ASN][1000 genomes]
rs11169252	0.93[ASN][1000 genomes]
rs11503902	0.87[ASN][1000 genomes]
rs12313336	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12313701	1.00[ASN][1000 genomes]
rs12322177	0.87[ASN][1000 genomes]
rs2292721	0.87[ASN][1000 genomes]
rs296748	0.87[ASN][1000 genomes]
rs296749	0.93[ASN][1000 genomes]
rs56773627	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58424082	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61147017	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73297484	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73297487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7972448	1.00[AMR][1000 genomes];1.00[ASN][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	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
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50419400-50426600	Weak transcription	Gastric	stomach
2	chr12:50424400-50427400	Weak transcription	HepG2	liver
3	chr12:50426000-50426600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:50426000-50426800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:50426000-50428000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr12:50426200-50426600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:50426200-50426600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr12:50426200-50426600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr12:50426200-50426600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
10	chr12:50426200-50426600	Enhancers	Spleen	Spleen
11	chr12:50426200-50427000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:50426200-50427000	Active TSS	Brain Anterior Caudate	brain
13	chr12:50426200-50427200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:50426200-50427200	Active TSS	Fetal Kidney	kidney
15	chr12:50426200-50427400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr12:50426200-50427400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:50426200-50427400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr12:50426200-50427600	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr12:50426200-50427800	Enhancers	K562	blood
20	chr12:50426400-50426600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:50426400-50426600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:50426400-50426600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr12:50426400-50426600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:50426400-50426600	Active TSS	Muscle Satellite Cultured Cells	--
25	chr12:50426400-50426600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:50426400-50426600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:50426400-50426600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:50426400-50426600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:50426400-50426600	Enhancers	Esophagus	oesophagus
30	chr12:50426400-50426600	Bivalent Enhancer	Fetal Intestine Small	intestine
31	chr12:50426400-50426600	Bivalent/Poised TSS	Fetal Stomach	stomach
32	chr12:50426400-50426600	Enhancers	NH-A	brain
33	chr12:50426400-50426800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr12:50426400-50426800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:50426400-50426800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr12:50426400-50426800	Bivalent/Poised TSS	Colonic Mucosa	Colon
37	chr12:50426400-50426800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
38	chr12:50426400-50426800	Bivalent Enhancer	Fetal Brain Male	brain
39	chr12:50426400-50426800	Bivalent Enhancer	Stomach Mucosa	stomach
40	chr12:50426400-50426800	Enhancers	NHEK	skin
41	chr12:50426400-50426800	Flanking Active TSS	Osteobl	bone
42	chr12:50426400-50427000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
43	chr12:50426400-50427000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
44	chr12:50426400-50427000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
45	chr12:50426400-50427000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:50426400-50427000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:50426400-50427000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
48	chr12:50426400-50427000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
49	chr12:50426400-50427000	Active TSS	Brain Substantia Nigra	brain
50	chr12:50426400-50427000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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