Variant report

Variant	rs57719471
Chromosome Location	chr12:123535431-123535432
allele	G/T
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: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11061578	1.00[AMR][1000 genomes]
rs55992397	1.00[AMR][1000 genomes]
rs56140750	1.00[AMR][1000 genomes]
rs57106451	1.00[AMR][1000 genomes]
rs57178349	1.00[AMR][1000 genomes]
rs57641050	1.00[AMR][1000 genomes]
rs57764857	1.00[AMR][1000 genomes]
rs57794792	1.00[AMR][1000 genomes]
rs58339539	0.85[AMR][1000 genomes]
rs59615440	1.00[AMR][1000 genomes]
rs59881907	1.00[AMR][1000 genomes]
rs60341983	1.00[AMR][1000 genomes]
rs60358140	1.00[AMR][1000 genomes]
rs60546720	1.00[AMR][1000 genomes]
rs60761837	1.00[AMR][1000 genomes]
rs7302112	1.00[AMR][1000 genomes]
rs73411017	0.84[AFR][1000 genomes]
rs73411076	1.00[AMR][1000 genomes]
rs73411084	1.00[AMR][1000 genomes]
rs73411087	1.00[AMR][1000 genomes]
rs73411088	1.00[AMR][1000 genomes]
rs73411090	1.00[AMR][1000 genomes]
rs73411093	1.00[AMR][1000 genomes]
rs73411098	0.85[AMR][1000 genomes]
rs73413226	1.00[AMR][1000 genomes]
rs73413228	1.00[AMR][1000 genomes]
rs73413230	1.00[AMR][1000 genomes]
rs73413236	1.00[AMR][1000 genomes]
rs73413241	1.00[AMR][1000 genomes]
rs73413246	1.00[AMR][1000 genomes]
rs73413263	1.00[AMR][1000 genomes]
rs73413265	1.00[AMR][1000 genomes]
rs73413270	1.00[AMR][1000 genomes]
rs73417317	0.85[AMR][1000 genomes]
rs73417324	0.85[AMR][1000 genomes]
rs7952760	1.00[AMR][1000 genomes]
rs7964036	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:83 , 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	chr12:123528800-123541400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:123529000-123540400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:123529400-123538800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:123529400-123544600	Weak transcription	Small Intestine	intestine
12	chr12:123529600-123546200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:123529800-123537800	Genic enhancers	Fetal Thymus	thymus
14	chr12:123529800-123548200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:123530200-123538800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:123530800-123540600	Weak transcription	Colonic Mucosa	Colon
17	chr12:123530800-123544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:123532200-123538800	Weak transcription	Primary B cells from cord blood	blood
19	chr12:123532200-123540200	Weak transcription	Brain Substantia Nigra	brain
20	chr12:123532400-123546600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:123532800-123543400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:123533000-123538800	Weak transcription	Primary T cells from cord blood	blood
23	chr12:123533200-123536400	Genic enhancers	Thymus	Thymus
24	chr12:123533400-123536000	Enhancers	Liver	Liver
25	chr12:123533600-123535600	Enhancers	Brain Cingulate Gyrus	brain
26	chr12:123533600-123536600	Enhancers	Rectal Smooth Muscle	rectum
27	chr12:123533600-123537200	Enhancers	Left Ventricle	heart
28	chr12:123533800-123535600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:123533800-123535800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr12:123533800-123535800	Enhancers	Fetal Brain Male	brain
31	chr12:123533800-123535800	Enhancers	Psoas Muscle	Psoas
32	chr12:123533800-123535800	Enhancers	Right Atrium	heart
33	chr12:123533800-123535800	Enhancers	Right Ventricle	heart
34	chr12:123533800-123535800	Enhancers	NHDF-Ad	bronchial
35	chr12:123533800-123536000	Enhancers	Brain Anterior Caudate	brain
36	chr12:123533800-123536000	Enhancers	Fetal Muscle Leg	muscle
37	chr12:123533800-123536000	Enhancers	Placenta Amnion	Placenta Amnion
38	chr12:123533800-123536600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr12:123533800-123536600	Enhancers	Fetal Heart	heart
40	chr12:123533800-123537000	Enhancers	Colon Smooth Muscle	Colon
41	chr12:123534000-123535600	Enhancers	Fetal Brain Female	brain
42	chr12:123534000-123535800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr12:123534000-123536400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:123534200-123535600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:123534200-123536000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:123534200-123536000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:123534200-123536200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:123534400-123535600	Enhancers	HMEC	breast
49	chr12:123534600-123535600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:123534600-123535800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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