Variant report

Variant	rs16918023
Chromosome Location	chr12:9269806-9269807
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr12:9269800-9269822	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
A2M	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16917969	1.00[EUR][1000 genomes]
rs16918015	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs226409	1.00[EUR][1000 genomes]
rs226412	1.00[EUR][1000 genomes]
rs226413	1.00[EUR][1000 genomes]
rs56016864	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7298071	1.00[EUR][1000 genomes]
rs7303415	1.00[EUR][1000 genomes]
rs74060475	1.00[EUR][1000 genomes]
rs74060548	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060552	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061408	1.00[EUR][1000 genomes]
rs74061424	1.00[EUR][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	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	esv3504674	chr12:9243858-9318016	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3502154	chr12:9243906-9317851	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3502155	chr12:9243906-9317851	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3504685	chr12:9243948-9317959	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv527404	chr12:9250601-9435244	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9243000-9274800	Weak transcription	Small Intestine	intestine
2	chr12:9262800-9289000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:9264800-9270200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr12:9265000-9270000	Active TSS	Right Atrium	heart
5	chr12:9266200-9270800	Active TSS	Stomach Smooth Muscle	stomach
6	chr12:9266200-9274800	Weak transcription	Gastric	stomach
7	chr12:9266400-9270000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr12:9266400-9270800	Active TSS	Aorta	Aorta
9	chr12:9267800-9270200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:9267800-9272200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:9268000-9270200	Enhancers	Fetal Heart	heart
12	chr12:9268200-9271800	Enhancers	HMEC	breast
13	chr12:9268200-9272200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:9268400-9270200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr12:9268400-9270400	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:9268400-9270600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr12:9268400-9270800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:9268400-9271000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:9268400-9271800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:9268400-9274400	Weak transcription	Fetal Intestine Large	intestine
21	chr12:9268600-9270000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:9268600-9271000	Enhancers	Primary B cells from cord blood	blood
23	chr12:9268800-9270000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:9268800-9270400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:9268800-9271000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:9268800-9271000	Weak transcription	Fetal Thymus	thymus
27	chr12:9268800-9271600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:9269000-9270000	Weak transcription	Fetal Kidney	kidney
29	chr12:9269000-9270000	Weak transcription	Left Ventricle	heart
30	chr12:9269000-9270000	Weak transcription	Spleen	Spleen
31	chr12:9269000-9270200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:9269000-9270200	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr12:9269000-9270400	Flanking Active TSS	Fetal Lung	lung
34	chr12:9269000-9270800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:9269000-9270800	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:9269000-9271200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:9269000-9271600	Enhancers	NHLF	lung
38	chr12:9269000-9277400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr12:9269000-9280400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:9269000-9319200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:9269200-9270400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:9269200-9270800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:9269200-9270800	Weak transcription	GM12878-XiMat	blood
44	chr12:9269200-9271000	Enhancers	Liver	Liver
45	chr12:9269200-9271000	Weak transcription	HSMMtube	muscle
46	chr12:9269200-9275800	Weak transcription	Brain Angular Gyrus	brain
47	chr12:9269200-9280400	Weak transcription	Primary T cells from cord blood	blood
48	chr12:9269200-9281800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:9269400-9270000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:9269400-9270200	Enhancers	Colonic Mucosa	Colon

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