Variant report

Variant	rs57263027
Chromosome Location	chr15:45905208-45905209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45879090..45880889-chr15:45903152..45905270,2	K562	blood:
2	chr15:45750222..45752081-chr15:45903810..45905357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259354	Chromatin interaction
ENSG00000104164	Chromatin interaction
ENSG00000260170	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10152775	0.93[AMR][1000 genomes]
rs10152792	0.93[AMR][1000 genomes]
rs13376	0.93[AMR][1000 genomes]
rs1529353	0.93[AMR][1000 genomes]
rs1529354	0.86[AMR][1000 genomes]
rs1559892	0.93[AMR][1000 genomes]
rs16944196	0.86[AMR][1000 genomes]
rs16944305	0.86[AMR][1000 genomes]
rs16945588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1970374	0.93[AMR][1000 genomes]
rs2412958	0.85[AMR][1000 genomes]
rs3858908	0.93[AMR][1000 genomes]
rs4598849	0.90[AFR][1000 genomes]
rs60561729	0.93[AMR][1000 genomes]
rs61169737	0.93[AMR][1000 genomes]
rs61756712	0.93[AMR][1000 genomes]
rs6493153	0.93[AMR][1000 genomes]
rs679569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7163098	0.86[AMR][1000 genomes]
rs7165846	0.93[AMR][1000 genomes]
rs7166434	0.86[AMR][1000 genomes]
rs7168672	0.93[AMR][1000 genomes]
rs7170941	0.93[AMR][1000 genomes]
rs7173046	0.93[AMR][1000 genomes]
rs7183382	0.93[AMR][1000 genomes]
rs73412479	0.85[AMR][1000 genomes]
rs73412484	0.85[AMR][1000 genomes]
rs73412488	0.85[AMR][1000 genomes]
rs73412490	0.85[AMR][1000 genomes]
rs73414454	0.85[AMR][1000 genomes]
rs73414486	0.93[AMR][1000 genomes]
rs73416403	0.93[AMR][1000 genomes]
rs73416407	0.93[AMR][1000 genomes]
rs73416479	0.93[AMR][1000 genomes]
rs73416487	0.93[AMR][1000 genomes]
rs73420456	0.93[AMR][1000 genomes]
rs7495403	0.93[AMR][1000 genomes]
rs8029983	0.93[AMR][1000 genomes]
rs8034420	0.93[AMR][1000 genomes]
rs8042179	0.93[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904188	chr15:45801035-45941689	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv904189	chr15:45821158-46298458	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv904190	chr15:45892672-45960897	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	n/a
4	nsv904191	chr15:45902779-46381874	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45881000-45908600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:45881000-45908800	Weak transcription	Esophagus	oesophagus
3	chr15:45881200-45909000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:45882000-45908600	Weak transcription	NHLF	lung
5	chr15:45889600-45906600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:45889800-45905400	Weak transcription	Fetal Intestine Small	intestine
7	chr15:45889800-45908800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:45890200-45908800	Weak transcription	A549	lung
9	chr15:45896800-45912400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:45898400-45911000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:45898800-45906600	Weak transcription	Colon Smooth Muscle	Colon
12	chr15:45898800-45906600	Weak transcription	Pancreas	Pancrea
13	chr15:45898800-45909200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr15:45898800-45911600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr15:45899000-45906600	Weak transcription	HepG2	liver
16	chr15:45899400-45906800	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:45899400-45909000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr15:45899600-45906600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:45899600-45906800	Weak transcription	Brain Anterior Caudate	brain
20	chr15:45899600-45912400	Weak transcription	HSMMtube	muscle
21	chr15:45899800-45906600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:45900800-45908800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr15:45900800-45908800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr15:45900800-45911800	Weak transcription	Primary B cells from cord blood	blood
25	chr15:45901000-45909000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:45901600-45906600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr15:45901600-45908800	Weak transcription	HMEC	breast
28	chr15:45901600-45909400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr15:45901800-45908800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:45902200-45906400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr15:45902200-45907200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:45902200-45910200	Weak transcription	Fetal Brain Female	brain
33	chr15:45903000-45906600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:45904400-45905600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:45904600-45905600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr15:45904600-45905800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:45904800-45905600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:45904800-45905600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr15:45904800-45905600	Enhancers	GM12878-XiMat	blood
40	chr15:45904800-45905600	Enhancers	HSMM	muscle
41	chr15:45904800-45905600	Enhancers	HUVEC	blood vessel
42	chr15:45904800-45905600	Enhancers	NH-A	brain
43	chr15:45904800-45905600	Enhancers	NHDF-Ad	bronchial
44	chr15:45904800-45905600	Enhancers	NHEK	skin
45	chr15:45904800-45905600	Enhancers	Osteobl	bone
46	chr15:45905000-45905400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:45905000-45905400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:45905000-45905600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:45905000-45905600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:45905000-45905600	Enhancers	Hela-S3	cervix

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