Variant report

Variant	rs57764857
Chromosome Location	chr12:123535182-123535183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123533124..123537344-chr12:123538180..123541339,4	MCF-7	breast:
2	chr12:123534343..123536820-chr12:123551727..123554090,2	K562	blood:
3	chr12:123534522..123536134-chr12:123540599..123542732,2	K562	blood:
4	chr12:123520702..123523176-chr12:123533102..123535856,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11061578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34010146	0.83[AFR][1000 genomes]
rs55796417	1.00[AFR][1000 genomes]
rs55813219	0.89[AFR][1000 genomes]
rs55830208	1.00[AFR][1000 genomes]
rs55951195	0.89[AFR][1000 genomes]
rs55992397	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56020503	1.00[AFR][1000 genomes]
rs56140750	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56288804	0.86[AFR][1000 genomes]
rs56725866	1.00[AFR][1000 genomes]
rs57106451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57178349	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57641050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57719471	1.00[AMR][1000 genomes]
rs57794792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57863319	0.83[AFR][1000 genomes]
rs58025094	0.83[AFR][1000 genomes]
rs58339539	0.85[AMR][1000 genomes]
rs58462666	0.89[AFR][1000 genomes]
rs59211448	0.83[AFR][1000 genomes]
rs59379557	0.86[AFR][1000 genomes]
rs59615440	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59881907	1.00[AMR][1000 genomes]
rs60341839	1.00[AFR][1000 genomes]
rs60341983	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60358140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60546720	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60761837	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60809882	1.00[AFR][1000 genomes]
rs60888713	0.89[AFR][1000 genomes]
rs60987910	0.86[AFR][1000 genomes]
rs61061591	0.89[AFR][1000 genomes]
rs61377358	1.00[AFR][1000 genomes]
rs61516893	1.00[AFR][1000 genomes]
rs61546241	0.86[AFR][1000 genomes]
rs61592192	0.86[AFR][1000 genomes]
rs61677786	0.86[AFR][1000 genomes]
rs7302112	1.00[AMR][1000 genomes]
rs73408890	0.81[AFR][1000 genomes]
rs73408892	0.81[AFR][1000 genomes]
rs73408894	0.81[AFR][1000 genomes]
rs73408899	0.83[AFR][1000 genomes]
rs73411006	0.89[AFR][1000 genomes]
rs73411009	0.89[AFR][1000 genomes]
rs73411011	0.89[AFR][1000 genomes]
rs73411014	0.80[AFR][1000 genomes]
rs73411015	0.89[AFR][1000 genomes]
rs73411018	0.89[AFR][1000 genomes]
rs73411027	0.86[AFR][1000 genomes]
rs73411033	0.86[AFR][1000 genomes]
rs73411041	0.86[AFR][1000 genomes]
rs73411043	0.86[AFR][1000 genomes]
rs73411057	1.00[AFR][1000 genomes]
rs73411058	1.00[AFR][1000 genomes]
rs73411063	1.00[AFR][1000 genomes]
rs73411076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411084	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411087	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411088	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411090	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411093	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411098	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73413226	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413228	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413230	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413236	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413241	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413246	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413263	1.00[AMR][1000 genomes]
rs73413265	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413270	1.00[AMR][1000 genomes]
rs73417317	0.85[AMR][1000 genomes]
rs73417324	0.85[AMR][1000 genomes]
rs752164	1.00[AFR][1000 genomes]
rs7952760	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7964036	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	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
6	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
7	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
8	nsv560494	chr12:123478378-123560731	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123504400-123540200	Weak transcription	Hela-S3	cervix
2	chr12:123518200-123535600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:123518800-123540600	Weak transcription	HepG2	liver
4	chr12:123519000-123540400	Weak transcription	Gastric	stomach
5	chr12:123519000-123543400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:123528200-123542400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:123528600-123545800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:123528800-123535200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:123528800-123541400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:123529000-123535400	Weak transcription	Fetal Intestine Small	intestine
11	chr12:123529000-123540400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:123529400-123538800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:123529400-123544600	Weak transcription	Small Intestine	intestine
14	chr12:123529600-123546200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr12:123529800-123537800	Genic enhancers	Fetal Thymus	thymus
16	chr12:123529800-123548200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:123530200-123538800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:123530800-123540600	Weak transcription	Colonic Mucosa	Colon
19	chr12:123530800-123544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:123531000-123535400	Weak transcription	Placenta	Placenta
21	chr12:123532200-123538800	Weak transcription	Primary B cells from cord blood	blood
22	chr12:123532200-123540200	Weak transcription	Brain Substantia Nigra	brain
23	chr12:123532400-123546600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:123532800-123535400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:123532800-123535400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:123532800-123543400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:123533000-123538800	Weak transcription	Primary T cells from cord blood	blood
28	chr12:123533200-123536400	Genic enhancers	Thymus	Thymus
29	chr12:123533400-123536000	Enhancers	Liver	Liver
30	chr12:123533600-123535200	Enhancers	Aorta	Aorta
31	chr12:123533600-123535400	Enhancers	HSMM	muscle
32	chr12:123533600-123535600	Enhancers	Brain Cingulate Gyrus	brain
33	chr12:123533600-123536600	Enhancers	Rectal Smooth Muscle	rectum
34	chr12:123533600-123537200	Enhancers	Left Ventricle	heart
35	chr12:123533800-123535400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:123533800-123535400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr12:123533800-123535400	Enhancers	Brain Angular Gyrus	brain
38	chr12:123533800-123535400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:123533800-123535600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:123533800-123535800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr12:123533800-123535800	Enhancers	Fetal Brain Male	brain
42	chr12:123533800-123535800	Enhancers	Psoas Muscle	Psoas
43	chr12:123533800-123535800	Enhancers	Right Atrium	heart
44	chr12:123533800-123535800	Enhancers	Right Ventricle	heart
45	chr12:123533800-123535800	Enhancers	NHDF-Ad	bronchial
46	chr12:123533800-123536000	Enhancers	Brain Anterior Caudate	brain
47	chr12:123533800-123536000	Enhancers	Fetal Muscle Leg	muscle
48	chr12:123533800-123536000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr12:123533800-123536600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr12:123533800-123536600	Enhancers	Fetal Heart	heart

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