Variant report

Variant	rs57190557
Chromosome Location	chr12:123579673-123579674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123575749..123580270-chr12:123716627..123719532,4	MCF-7	breast:
2	chr12:123578771..123581154-chr12:123581766..123585014,3	MCF-7	breast:
3	chr12:123554111..123554689-chr12:123579147..123579868,2	MCF-7	breast:
4	chr12:123557830..123561771-chr12:123578816..123581456,4	MCF-7	breast:
5	chr12:123578867..123580732-chr12:123586590..123589378,3	MCF-7	breast:
6	chr12:123578797..123580896-chr12:123581116..123583111,2	K562	blood:
7	chr12:123546572..123549007-chr12:123579476..123581464,2	MCF-7	breast:
8	chr12:123547553..123548167-chr12:123578939..123579682,3	MCF-7	breast:
9	chr12:123578789..123580705-chr12:123603814..123606258,2	K562	blood:
10	chr12:123579230..123579753-chr12:123591042..123591628,2	MCF-7	breast:
11	chr12:123576316..123578590-chr12:123579246..123582102,2	K562	blood:
12	chr12:123459532..123461382-chr12:123578582..123581512,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150967	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000256028	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000090975	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs57143069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57530745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58251569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58283587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58463629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58570201	1.00[AMR][1000 genomes]
rs59107122	1.00[AMR][1000 genomes]
rs59312127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60052793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60442043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60543890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60726563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60817665	0.85[AFR][1000 genomes]
rs61685353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408811	1.00[AMR][1000 genomes]
rs73408817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411044	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417352	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123561200-123590000	Weak transcription	Fetal Intestine Small	intestine
2	chr12:123561600-123604000	Genic enhancers	Fetal Thymus	thymus
3	chr12:123562400-123586600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:123567400-123588000	Enhancers	Left Ventricle	heart
5	chr12:123570000-123579800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:123570800-123580200	Enhancers	HMEC	breast
7	chr12:123570800-123586600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:123571000-123586600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:123571200-123600000	Genic enhancers	Thymus	Thymus
10	chr12:123571400-123580000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:123571800-123582200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:123573200-123584200	Enhancers	Liver	Liver
13	chr12:123574400-123586800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:123576400-123589400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:123576600-123581400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:123576600-123588600	Enhancers	Right Ventricle	heart
17	chr12:123576800-123583200	Weak transcription	Primary B cells from cord blood	blood
18	chr12:123577000-123580200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:123577000-123581000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:123577000-123590400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:123577200-123581200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:123577200-123584400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:123577200-123586800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:123577400-123582400	Enhancers	Fetal Heart	heart
25	chr12:123577400-123589600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:123577400-123590200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:123577800-123579800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:123577800-123581400	Enhancers	Psoas Muscle	Psoas
29	chr12:123578000-123580200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:123578000-123580800	Enhancers	Lung	lung
31	chr12:123578000-123580800	Enhancers	Ovary	ovary
32	chr12:123578000-123581200	Enhancers	Esophagus	oesophagus
33	chr12:123578000-123581400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr12:123578000-123581600	Enhancers	Colonic Mucosa	Colon
35	chr12:123578000-123584400	Enhancers	Fetal Muscle Trunk	muscle
36	chr12:123578200-123580200	Enhancers	K562	blood
37	chr12:123578200-123580600	Enhancers	Fetal Stomach	stomach
38	chr12:123578200-123581600	Enhancers	Right Atrium	heart
39	chr12:123578200-123583000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:123578200-123583200	Enhancers	Colon Smooth Muscle	Colon
41	chr12:123578200-123584800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr12:123578200-123584800	Enhancers	Fetal Muscle Leg	muscle
43	chr12:123578400-123579800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr12:123578400-123580000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr12:123578400-123580000	Enhancers	HSMMtube	muscle
46	chr12:123578400-123580200	Enhancers	Spleen	Spleen
47	chr12:123578400-123581000	Enhancers	Gastric	stomach
48	chr12:123578400-123582800	Enhancers	Brain Substantia Nigra	brain
49	chr12:123578600-123579800	Enhancers	HSMM	muscle
50	chr12:123578600-123579800	Enhancers	Osteobl	bone

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