Variant report

Variant	rs73225101
Chromosome Location	chr12:121150289-121150290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121146305..121152610-chr12:121160959..121168394,8	MCF-7	breast:
2	chr12:121148056..121150871-chr12:121436598..121439075,2	MCF-7	breast:
3	chr12:121145921..121147941-chr12:121149529..121151514,2	MCF-7	breast:
4	chr12:121148398..121150885-chr12:121151004..121154800,4	MCF-7	breast:
5	chr12:121148319..121151196-chr12:121161623..121163655,2	K562	blood:
6	chr12:121150019..121152540-chr12:121155264..121157262,3	MCF-7	breast:
7	chr12:121122969..121126872-chr12:121145365..121151601,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122971	Chromatin interaction
ENSG00000265455	Chromatin interaction
ENSG00000271769	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000256569	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs12821493	1.00[ASN][1000 genomes]
rs2138250	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35151295	1.00[ASN][1000 genomes]
rs35267083	1.00[ASN][1000 genomes]
rs3850521	1.00[ASN][1000 genomes]
rs3889470	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55645249	1.00[ASN][1000 genomes]
rs55647329	1.00[ASN][1000 genomes]
rs55660947	1.00[ASN][1000 genomes]
rs55874815	1.00[ASN][1000 genomes]
rs55914930	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55941696	1.00[ASN][1000 genomes]
rs55970240	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55980956	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56084677	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56163702	1.00[ASN][1000 genomes]
rs56175661	1.00[ASN][1000 genomes]
rs56178989	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56183824	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56189047	1.00[ASN][1000 genomes]
rs56206244	1.00[ASN][1000 genomes]
rs56284009	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56366632	1.00[ASN][1000 genomes]
rs56391085	1.00[ASN][1000 genomes]
rs56401401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58235352	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73213106	1.00[ASN][1000 genomes]
rs73214885	1.00[ASN][1000 genomes]
rs73214888	1.00[ASN][1000 genomes]
rs73214894	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73214896	1.00[ASN][1000 genomes]
rs73217006	1.00[AFR][1000 genomes]
rs73217009	1.00[ASN][1000 genomes]
rs73217017	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73222694	1.00[ASN][1000 genomes]
rs73222699	1.00[ASN][1000 genomes]
rs73222778	1.00[ASN][1000 genomes]
rs73222780	1.00[ASN][1000 genomes]
rs73222784	1.00[ASN][1000 genomes]
rs73222786	1.00[ASN][1000 genomes]
rs73222794	1.00[ASN][1000 genomes]
rs73222795	1.00[ASN][1000 genomes]
rs73224303	1.00[ASN][1000 genomes]
rs73224309	1.00[ASN][1000 genomes]
rs73224313	1.00[ASN][1000 genomes]
rs73225003	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225012	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225023	1.00[ASN][1000 genomes]
rs73225093	1.00[ASN][1000 genomes]
rs73227016	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73227022	1.00[ASN][1000 genomes]
rs73227026	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	1.00[ASN][1000 genomes]
rs73229118	1.00[ASN][1000 genomes]
rs73229126	1.00[ASN][1000 genomes]
rs73229149	1.00[ASN][1000 genomes]
rs73229151	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229157	1.00[ASN][1000 genomes]
rs73229160	1.00[ASN][1000 genomes]
rs73229162	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73230347	1.00[ASN][1000 genomes]
rs73230349	1.00[ASN][1000 genomes]
rs73230352	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121149000-121153600	Weak transcription	Aorta	Aorta
2	chr12:121149400-121150400	Enhancers	Primary T cells from cord blood	blood
3	chr12:121149400-121150400	Enhancers	Liver	Liver
4	chr12:121149400-121150600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:121149400-121150800	Enhancers	Fetal Heart	heart
6	chr12:121149600-121150400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:121149600-121150400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:121149600-121150400	Enhancers	Fetal Intestine Large	intestine
9	chr12:121149600-121150400	Genic enhancers	Fetal Stomach	stomach
10	chr12:121149600-121150600	Enhancers	Adipose Nuclei	Adipose
11	chr12:121149600-121150600	Enhancers	Duodenum Mucosa	Duodenum
12	chr12:121149600-121150800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:121149600-121150800	Enhancers	Fetal Kidney	kidney
14	chr12:121149600-121151000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:121149600-121151200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:121149600-121151200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:121149600-121151200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:121149600-121151200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:121149600-121151200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:121149600-121151200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:121149600-121151200	Weak transcription	Gastric	stomach
22	chr12:121149600-121151200	Weak transcription	Lung	lung
23	chr12:121149600-121151200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:121149600-121151400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:121149600-121151600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:121149600-121152000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:121149600-121152200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:121149600-121152400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:121149600-121152400	Weak transcription	HSMMtube	muscle
30	chr12:121149600-121154200	Weak transcription	Colonic Mucosa	Colon
31	chr12:121149600-121157200	Weak transcription	Psoas Muscle	Psoas
32	chr12:121149600-121159000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:121149800-121150400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:121149800-121150400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr12:121149800-121150400	Enhancers	Fetal Brain Female	brain
36	chr12:121149800-121150400	Enhancers	HepG2	liver
37	chr12:121149800-121150400	Genic enhancers	K562	blood
38	chr12:121149800-121150600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr12:121149800-121150800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:121149800-121150800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:121149800-121151000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:121149800-121151200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:121149800-121151200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:121149800-121151200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:121149800-121151200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:121149800-121151200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:121149800-121151200	Weak transcription	NHEK	skin
48	chr12:121149800-121151400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr12:121149800-121151400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:121149800-121151600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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