Variant report

Variant	rs73411018
Chromosome Location	chr12:123476620-123476621
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123476420..123479268-chr12:123480429..123483932,4	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10219462	0.86[AFR][1000 genomes]
rs11060932	0.85[AFR][1000 genomes]
rs11060997	0.86[AFR][1000 genomes]
rs11060999	0.86[AFR][1000 genomes]
rs11061578	0.89[AFR][1000 genomes]
rs12229884	0.86[AFR][1000 genomes]
rs12311043	0.86[AFR][1000 genomes]
rs34010146	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55646110	1.00[AMR][1000 genomes]
rs55796417	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55813219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55830208	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55939945	1.00[AMR][1000 genomes]
rs55951195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56020503	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56140750	0.86[AFR][1000 genomes]
rs56150478	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56288804	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56725866	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57106451	0.89[AFR][1000 genomes]
rs57110420	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57178349	0.81[AFR][1000 genomes]
rs57258703	1.00[AMR][1000 genomes]
rs57310784	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57641050	0.89[AFR][1000 genomes]
rs57764857	0.89[AFR][1000 genomes]
rs57794792	0.89[AFR][1000 genomes]
rs57863319	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58025094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58462666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59002329	0.83[AFR][1000 genomes]
rs59081274	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59211448	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59379557	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59526938	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60341839	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60341983	0.86[AFR][1000 genomes]
rs60358140	0.89[AFR][1000 genomes]
rs60739634	1.00[AMR][1000 genomes]
rs60809882	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60888713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60920158	0.85[AMR][1000 genomes]
rs60987910	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61061591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61377358	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61516893	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61546241	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61592192	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61677786	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7295258	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406966	0.85[AMR][1000 genomes]
rs73406997	0.85[AMR][1000 genomes]
rs73408803	0.85[AMR][1000 genomes]
rs73408810	0.85[AMR][1000 genomes]
rs73408812	0.85[AMR][1000 genomes]
rs73408818	1.00[AMR][1000 genomes]
rs73408820	1.00[AMR][1000 genomes]
rs73408832	1.00[AMR][1000 genomes]
rs73408835	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408838	0.85[AMR][1000 genomes]
rs73408846	0.85[AMR][1000 genomes]
rs73408862	0.83[AFR][1000 genomes]
rs73408863	0.83[AFR][1000 genomes]
rs73408887	0.85[AMR][1000 genomes]
rs73408890	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408892	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408893	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408894	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408899	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411014	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411017	0.85[AMR][1000 genomes]
rs73411027	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411033	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411041	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411043	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411057	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411058	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411063	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411076	0.89[AFR][1000 genomes]
rs73411087	0.86[AFR][1000 genomes]
rs73411090	0.81[AFR][1000 genomes]
rs73413226	0.81[AFR][1000 genomes]
rs73413228	0.81[AFR][1000 genomes]
rs73413230	0.81[AFR][1000 genomes]
rs73413241	0.81[AFR][1000 genomes]
rs73413246	0.81[AFR][1000 genomes]
rs752164	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7952760	0.86[AFR][1000 genomes]
rs7964036	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv899577	chr12:123435248-123484474	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv560493	chr12:123467325-123479623	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	esv3343263	chr12:123474249-123476747	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123466600-123483400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:123466800-123516000	Weak transcription	Small Intestine	intestine
3	chr12:123467600-123504000	Weak transcription	Hela-S3	cervix
4	chr12:123468000-123486200	Strong transcription	Fetal Brain Female	brain
5	chr12:123468200-123476800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:123468200-123477800	Strong transcription	Brain Germinal Matrix	brain
7	chr12:123468800-123477000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:123468800-123485200	Weak transcription	Aorta	Aorta
9	chr12:123469200-123477400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:123469200-123498600	Strong transcription	Primary T cells from cord blood	blood
11	chr12:123469400-123479400	Weak transcription	Psoas Muscle	Psoas
12	chr12:123469400-123491600	Weak transcription	HMEC	breast
13	chr12:123469400-123509400	Weak transcription	NHDF-Ad	bronchial
14	chr12:123469400-123509600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:123469600-123477000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:123469600-123477000	Strong transcription	Colonic Mucosa	Colon
17	chr12:123469600-123484600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:123469600-123493200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:123469800-123485800	Strong transcription	Placenta	Placenta
20	chr12:123469800-123486800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:123469800-123491400	Weak transcription	HSMMtube	muscle
22	chr12:123469800-123491600	Weak transcription	Osteobl	bone
23	chr12:123470000-123477000	Strong transcription	Fetal Intestine Small	intestine
24	chr12:123470000-123477200	Strong transcription	Lung	lung
25	chr12:123470000-123480000	Weak transcription	Right Atrium	heart
26	chr12:123470000-123486200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:123470000-123486200	Weak transcription	HSMM	muscle
28	chr12:123470000-123486600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:123470200-123477200	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:123470200-123479200	Strong transcription	Fetal Thymus	thymus
31	chr12:123470200-123479800	Strong transcription	Right Ventricle	heart
32	chr12:123470200-123480400	Weak transcription	HepG2	liver
33	chr12:123470200-123512800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:123470400-123477200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:123470400-123477200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:123470400-123477200	Strong transcription	Fetal Stomach	stomach
37	chr12:123470400-123480000	Strong transcription	Left Ventricle	heart
38	chr12:123470400-123482800	Strong transcription	Gastric	stomach
39	chr12:123470400-123483600	Weak transcription	Brain Substantia Nigra	brain
40	chr12:123470400-123526600	Weak transcription	Fetal Lung	lung
41	chr12:123470600-123478800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:123470600-123486200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:123471000-123478200	Strong transcription	Brain Anterior Caudate	brain
44	chr12:123471400-123477000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:123471400-123477200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:123471600-123484600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:123472000-123499000	Strong transcription	Thymus	Thymus
48	chr12:123472200-123484200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:123472400-123477600	Strong transcription	Spleen	Spleen
50	chr12:123472400-123480800	Weak transcription	NHEK	skin

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