Variant report

Variant	rs73406966
Chromosome Location	chr12:123372145-123372146
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123371782..123374478-chr12:123385509..123387711,2	K562	blood:
2	chr12:123371833..123374158-chr12:123459518..123462902,4	K562	blood:
3	chr12:123371397..123374446-chr12:123429800..123431973,3	MCF-7	breast:
4	chr12:123371537..123373308-chr12:125399235..125402211,2	K562	blood:
5	chr12:123354952..123357571-chr12:123370695..123373701,5	MCF-7	breast:
6	chr12:123353502..123357222-chr12:123371821..123375830,5	MCF-7	breast:
7	chr12:123361905..123363893-chr12:123371746..123374359,2	MCF-7	breast:
8	chr12:123276806..123278323-chr12:123371531..123373689,2	MCF-7	breast:
9	chr12:123321572..123324516-chr12:123371831..123374446,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256028	Chromatin interaction
ENSG00000139722	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000265345	Chromatin interaction
ENSG00000150991	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34010146	0.85[AMR][1000 genomes]
rs55646110	0.85[AMR][1000 genomes]
rs55796417	1.00[AMR][1000 genomes]
rs55813219	0.85[AMR][1000 genomes]
rs55830208	1.00[AMR][1000 genomes]
rs55939945	0.85[AMR][1000 genomes]
rs55951195	0.85[AMR][1000 genomes]
rs56000615	0.85[AMR][1000 genomes]
rs56020503	1.00[AMR][1000 genomes]
rs56150478	1.00[AMR][1000 genomes]
rs56288804	1.00[AMR][1000 genomes]
rs56725866	1.00[AMR][1000 genomes]
rs57110420	0.85[AMR][1000 genomes]
rs57258703	0.85[AMR][1000 genomes]
rs57863319	1.00[AMR][1000 genomes]
rs58025094	0.85[AMR][1000 genomes]
rs58462666	0.85[AMR][1000 genomes]
rs59081274	0.85[AMR][1000 genomes]
rs59211448	1.00[AMR][1000 genomes]
rs59379557	1.00[AMR][1000 genomes]
rs59526938	0.85[AMR][1000 genomes]
rs60341839	1.00[AMR][1000 genomes]
rs60739634	0.85[AMR][1000 genomes]
rs60809882	1.00[AMR][1000 genomes]
rs60888713	0.85[AMR][1000 genomes]
rs60901287	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60920158	1.00[AMR][1000 genomes]
rs60987910	1.00[AMR][1000 genomes]
rs61061591	0.85[AMR][1000 genomes]
rs61377358	1.00[AMR][1000 genomes]
rs61516893	1.00[AMR][1000 genomes]
rs61546241	0.85[AMR][1000 genomes]
rs61592192	1.00[AMR][1000 genomes]
rs61677786	0.85[AMR][1000 genomes]
rs7295258	0.85[AMR][1000 genomes]
rs73406997	1.00[AMR][1000 genomes]
rs73408803	1.00[AMR][1000 genomes]
rs73408810	1.00[AMR][1000 genomes]
rs73408812	1.00[AMR][1000 genomes]
rs73408818	0.85[AMR][1000 genomes]
rs73408820	0.85[AMR][1000 genomes]
rs73408832	0.85[AMR][1000 genomes]
rs73408835	0.85[AMR][1000 genomes]
rs73408838	1.00[AMR][1000 genomes]
rs73408846	1.00[AMR][1000 genomes]
rs73408887	1.00[AMR][1000 genomes]
rs73408890	0.85[AMR][1000 genomes]
rs73408892	0.85[AMR][1000 genomes]
rs73408893	0.85[AMR][1000 genomes]
rs73408894	0.85[AMR][1000 genomes]
rs73408899	0.85[AMR][1000 genomes]
rs73411006	0.85[AMR][1000 genomes]
rs73411009	0.85[AMR][1000 genomes]
rs73411011	0.85[AMR][1000 genomes]
rs73411014	0.85[AMR][1000 genomes]
rs73411015	0.85[AMR][1000 genomes]
rs73411017	1.00[AMR][1000 genomes]
rs73411018	0.85[AMR][1000 genomes]
rs73411027	0.85[AMR][1000 genomes]
rs73411033	1.00[AMR][1000 genomes]
rs73411041	1.00[AMR][1000 genomes]
rs73411043	1.00[AMR][1000 genomes]
rs73411057	1.00[AMR][1000 genomes]
rs73411058	1.00[AMR][1000 genomes]
rs73411063	1.00[AMR][1000 genomes]
rs752164	1.00[AMR][1000 genomes]
rs7971535	0.85[AMR][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	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123357000-123373000	Weak transcription	Aorta	Aorta
2	chr12:123365200-123373000	Weak transcription	Fetal Stomach	stomach
3	chr12:123365400-123373000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:123366000-123372800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:123366200-123373000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:123366200-123379800	Weak transcription	Ovary	ovary
7	chr12:123367200-123372400	Enhancers	HUVEC	blood vessel
8	chr12:123367800-123375800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:123368600-123373000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:123368600-123375600	Enhancers	NHDF-Ad	bronchial
11	chr12:123370000-123372600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:123370400-123372400	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:123370400-123372400	Enhancers	Fetal Thymus	thymus
14	chr12:123370400-123372800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:123370400-123379400	Enhancers	Small Intestine	intestine
16	chr12:123370600-123372400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:123370600-123372400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:123370600-123372400	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:123370600-123372400	Enhancers	Thymus	Thymus
20	chr12:123370600-123372400	Flanking Active TSS	K562	blood
21	chr12:123370600-123372600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:123370600-123372600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr12:123370600-123372600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:123370600-123372800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:123370600-123372800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:123370600-123372800	Enhancers	Brain Hippocampus Middle	brain
27	chr12:123370600-123372800	Enhancers	Fetal Intestine Large	intestine
28	chr12:123370600-123372800	Enhancers	Stomach Mucosa	stomach
29	chr12:123370600-123372800	Enhancers	HSMMtube	muscle
30	chr12:123370600-123372800	Flanking Active TSS	NHEK	skin
31	chr12:123370600-123373000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:123370600-123373000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:123370600-123373000	Genic enhancers	Fetal Intestine Small	intestine
34	chr12:123370600-123373000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr12:123370600-123373000	Enhancers	HSMM	muscle
36	chr12:123370600-123374600	Enhancers	Pancreas	Pancrea
37	chr12:123370600-123375400	Enhancers	Spleen	Spleen
38	chr12:123370600-123377400	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr12:123370600-123377600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr12:123370800-123372600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr12:123370800-123372800	Enhancers	Colonic Mucosa	Colon
42	chr12:123370800-123372800	Enhancers	Fetal Muscle Leg	muscle
43	chr12:123370800-123372800	Enhancers	Gastric	stomach
44	chr12:123370800-123372800	Enhancers	HepG2	liver
45	chr12:123370800-123373000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr12:123370800-123373000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr12:123370800-123373000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:123370800-123373000	Enhancers	Placenta	Placenta
49	chr12:123370800-123373000	Enhancers	Left Ventricle	heart
50	chr12:123370800-123373200	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links