Variant report

Variant	rs57258703
Chromosome Location	chr12:123405233-123405234
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123404141..123406851-chr12:123412530..123414179,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs34010146	1.00[AMR][1000 genomes]
rs55646110	1.00[AMR][1000 genomes]
rs55796417	0.85[AMR][1000 genomes]
rs55813219	1.00[AMR][1000 genomes]
rs55830208	0.85[AMR][1000 genomes]
rs55939945	1.00[AMR][1000 genomes]
rs55951195	1.00[AMR][1000 genomes]
rs56020503	0.85[AMR][1000 genomes]
rs56150478	0.85[AMR][1000 genomes]
rs56288804	0.85[AMR][1000 genomes]
rs56725866	0.85[AMR][1000 genomes]
rs57110420	1.00[AMR][1000 genomes]
rs57310784	0.87[AMR][1000 genomes]
rs57863319	0.85[AMR][1000 genomes]
rs58025094	1.00[AMR][1000 genomes]
rs58462666	1.00[AMR][1000 genomes]
rs59081274	1.00[AMR][1000 genomes]
rs59211448	0.85[AMR][1000 genomes]
rs59379557	0.85[AMR][1000 genomes]
rs59526938	1.00[AMR][1000 genomes]
rs60341839	0.85[AMR][1000 genomes]
rs60739634	1.00[AMR][1000 genomes]
rs60809882	0.85[AMR][1000 genomes]
rs60888713	1.00[AMR][1000 genomes]
rs60920158	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60987910	0.85[AMR][1000 genomes]
rs61061591	1.00[AMR][1000 genomes]
rs61377358	0.85[AMR][1000 genomes]
rs61516893	0.85[AMR][1000 genomes]
rs61546241	1.00[AMR][1000 genomes]
rs61592192	0.85[AMR][1000 genomes]
rs61677786	1.00[AMR][1000 genomes]
rs7295258	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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408832	1.00[AMR][1000 genomes]
rs73408835	1.00[AMR][1000 genomes]
rs73408838	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73408846	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73408887	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73408890	1.00[AMR][1000 genomes]
rs73408892	1.00[AMR][1000 genomes]
rs73408893	1.00[AMR][1000 genomes]
rs73408894	1.00[AMR][1000 genomes]
rs73408899	1.00[AMR][1000 genomes]
rs73411006	1.00[AMR][1000 genomes]
rs73411009	1.00[AMR][1000 genomes]
rs73411011	1.00[AMR][1000 genomes]
rs73411014	1.00[AMR][1000 genomes]
rs73411015	1.00[AMR][1000 genomes]
rs73411017	0.85[AMR][1000 genomes]
rs73411018	1.00[AMR][1000 genomes]
rs73411027	1.00[AMR][1000 genomes]
rs73411033	0.85[AMR][1000 genomes]
rs73411041	0.85[AMR][1000 genomes]
rs73411043	0.85[AMR][1000 genomes]
rs73411057	0.85[AMR][1000 genomes]
rs73411058	0.85[AMR][1000 genomes]
rs73411063	0.85[AMR][1000 genomes]
rs752164	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123395000-123408400	Weak transcription	Fetal Brain Female	brain
2	chr12:123400800-123407200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr12:123401400-123417200	Weak transcription	Osteobl	bone
4	chr12:123401400-123425200	Weak transcription	Esophagus	oesophagus
5	chr12:123401400-123426000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:123401800-123405400	Enhancers	Fetal Intestine Small	intestine
7	chr12:123401800-123405600	Enhancers	Stomach Mucosa	stomach
8	chr12:123402600-123408400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:123402600-123416400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:123402600-123429200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:123402800-123408400	Weak transcription	Brain Anterior Caudate	brain
12	chr12:123402800-123414000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:123402800-123414200	Weak transcription	Ovary	ovary
14	chr12:123402800-123414600	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:123402800-123415400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:123402800-123416400	Weak transcription	Brain Substantia Nigra	brain
17	chr12:123402800-123426600	Weak transcription	NHLF	lung
18	chr12:123402800-123429200	Weak transcription	Gastric	stomach
19	chr12:123402800-123430800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:123403000-123405800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:123403000-123406400	Weak transcription	HSMMtube	muscle
22	chr12:123403000-123406600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:123403000-123408200	Weak transcription	Right Atrium	heart
24	chr12:123403000-123408400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:123403000-123409200	Weak transcription	Brain Germinal Matrix	brain
26	chr12:123403000-123410600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr12:123403000-123413800	Weak transcription	Pancreas	Pancrea
28	chr12:123403000-123414200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:123403000-123414200	Weak transcription	Brain Angular Gyrus	brain
30	chr12:123403000-123414400	Weak transcription	Right Ventricle	heart
31	chr12:123403000-123416600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:123403000-123426400	Weak transcription	Left Ventricle	heart
33	chr12:123403000-123428800	Weak transcription	Lung	lung
34	chr12:123403000-123444200	Weak transcription	Aorta	Aorta
35	chr12:123403200-123406400	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:123403200-123406400	Weak transcription	Psoas Muscle	Psoas
37	chr12:123403200-123406400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:123403400-123406400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:123403400-123406600	Enhancers	Duodenum Mucosa	Duodenum
40	chr12:123403400-123414200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:123403400-123427000	Weak transcription	A549	lung
42	chr12:123403600-123406400	Weak transcription	Fetal Stomach	stomach
43	chr12:123403600-123408600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:123403600-123413200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:123404000-123406400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:123404000-123406400	Weak transcription	Fetal Lung	lung
47	chr12:123404200-123405800	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr12:123404200-123406400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:123404200-123406400	Weak transcription	Colonic Mucosa	Colon
50	chr12:123404400-123406400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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