Variant report

Variant	rs73224303
Chromosome Location	chr12:121339698-121339699
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121338472..121340356-chr12:121340571..121343275,2	MCF-7	breast:
2	chr12:121331922..121335800-chr12:121336708..121340188,4	K562	blood:

Variant related genes	Relation type
ENSG00000157837	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs12313339	1.00[ASN][1000 genomes]
rs1696360	1.00[ASN][1000 genomes]
rs1971317	1.00[ASN][1000 genomes]
rs2393795	1.00[ASN][1000 genomes]
rs34325588	1.00[ASN][1000 genomes]
rs3850521	1.00[ASN][1000 genomes]
rs55645249	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55647329	1.00[ASN][1000 genomes]
rs55660034	1.00[ASN][1000 genomes]
rs55660947	1.00[ASN][1000 genomes]
rs55914930	1.00[ASN][1000 genomes]
rs55919842	1.00[ASN][1000 genomes]
rs55941696	1.00[ASN][1000 genomes]
rs55970240	1.00[ASN][1000 genomes]
rs55980956	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56163702	1.00[ASN][1000 genomes]
rs56175661	1.00[ASN][1000 genomes]
rs56178989	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56189047	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56206244	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56280478	1.00[ASN][1000 genomes]
rs56284009	1.00[ASN][1000 genomes]
rs56391085	1.00[ASN][1000 genomes]
rs56401401	1.00[ASN][1000 genomes]
rs58235352	1.00[ASN][1000 genomes]
rs73214136	1.00[ASN][1000 genomes]
rs73214162	1.00[ASN][1000 genomes]
rs73214163	1.00[ASN][1000 genomes]
rs73214191	1.00[ASN][1000 genomes]
rs73214885	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73214888	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214894	1.00[ASN][1000 genomes]
rs73214896	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214898	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73217009	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73217017	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73222694	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73222699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224309	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224313	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224318	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224321	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224323	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73224324	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224334	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224335	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224338	1.00[ASN][1000 genomes]
rs73224340	1.00[ASN][1000 genomes]
rs73224341	1.00[ASN][1000 genomes]
rs73224342	1.00[ASN][1000 genomes]
rs73225093	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73225101	1.00[ASN][1000 genomes]
rs73226258	1.00[ASN][1000 genomes]
rs73226260	1.00[ASN][1000 genomes]
rs73226262	1.00[ASN][1000 genomes]
rs73226267	1.00[ASN][1000 genomes]
rs73226270	1.00[ASN][1000 genomes]
rs73226273	1.00[ASN][1000 genomes]
rs73226274	1.00[ASN][1000 genomes]
rs73226287	1.00[ASN][1000 genomes]
rs73226288	1.00[ASN][1000 genomes]
rs73226292	1.00[ASN][1000 genomes]
rs73227016	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227022	1.00[ASN][1000 genomes]
rs73227026	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227027	1.00[ASN][1000 genomes]
rs73227029	1.00[ASN][1000 genomes]
rs73227033	1.00[ASN][1000 genomes]
rs73227036	1.00[ASN][1000 genomes]
rs73227038	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229118	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229126	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229149	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229151	1.00[ASN][1000 genomes]
rs73229157	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229160	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229162	1.00[ASN][1000 genomes]
rs959400	1.00[ASN][1000 genomes]
rs9919745	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv975642	chr12:121330910-121340230	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121294200-121340400	Weak transcription	HSMM	muscle
2	chr12:121297400-121339800	Weak transcription	A549	lung
3	chr12:121304600-121339800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:121312600-121339800	Weak transcription	Brain Germinal Matrix	brain
5	chr12:121312600-121339800	Weak transcription	NHDF-Ad	bronchial
6	chr12:121313400-121339800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:121313400-121339800	Weak transcription	Pancreas	Pancrea
8	chr12:121318200-121340400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:121323200-121340000	Weak transcription	Fetal Lung	lung
10	chr12:121323600-121340600	Weak transcription	Aorta	Aorta
11	chr12:121324000-121340400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:121324400-121339800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:121325800-121339800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:121326000-121339800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:121326600-121340200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:121328200-121339800	Weak transcription	NHLF	lung
17	chr12:121329000-121339800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:121329000-121340000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:121329000-121340200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:121329000-121340400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:121329200-121339800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:121329200-121339800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:121329200-121340000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:121330000-121339800	Weak transcription	Liver	Liver
25	chr12:121330200-121340200	Weak transcription	HUVEC	blood vessel
26	chr12:121330400-121339800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:121330400-121339800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:121330400-121339800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:121330400-121339800	Weak transcription	Psoas Muscle	Psoas
30	chr12:121331400-121339800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:121331400-121340200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr12:121332000-121340000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:121332000-121340600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:121332400-121340600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:121332800-121340200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:121333200-121339800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:121333200-121340400	Weak transcription	Gastric	stomach
38	chr12:121333600-121339800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:121334600-121339800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:121334800-121340200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:121335200-121339800	Weak transcription	Fetal Brain Male	brain
42	chr12:121335400-121339800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:121335800-121340400	Weak transcription	NH-A	brain
44	chr12:121336400-121339800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:121336400-121339800	Weak transcription	Spleen	Spleen
46	chr12:121336600-121339800	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:121336600-121339800	Weak transcription	Right Atrium	heart
48	chr12:121336800-121340200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:121337000-121339800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr12:121337200-121339800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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