Variant report

Variant	rs2543680
Chromosome Location	chr15:57254690-57254691
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	chr15:57254284..57256820-chr15:57279086..57281932,2	K562	blood:
2	chr15:57253721..57256073-chr15:57262899..57264820,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2543677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2543678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2543682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2585081	0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2585082	0.85[YRI][hapmap]
rs2585083	0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2593228	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv904250	chr15:57225766-57294085	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1052052	chr15:57232111-57344561	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv542394	chr15:57232111-57344561	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57212400-57256000	Weak transcription	Pancreas	Pancrea
2	chr15:57213200-57256000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:57222800-57255000	Weak transcription	HMEC	breast
4	chr15:57227600-57260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:57228200-57260600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:57229400-57255800	Weak transcription	Fetal Stomach	stomach
7	chr15:57232000-57256000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:57238400-57256200	Weak transcription	K562	blood
9	chr15:57241000-57255600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:57242200-57256000	Weak transcription	Ovary	ovary
11	chr15:57244000-57255800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:57244200-57257800	Weak transcription	Fetal Intestine Small	intestine
13	chr15:57246800-57256000	Weak transcription	Gastric	stomach
14	chr15:57249400-57256000	Weak transcription	Aorta	Aorta
15	chr15:57250000-57256200	Weak transcription	Primary B cells from cord blood	blood
16	chr15:57250600-57254800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr15:57250600-57256000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:57251000-57256000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:57251000-57256000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:57251000-57256000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr15:57251000-57256000	Weak transcription	Right Ventricle	heart
22	chr15:57251000-57259200	Weak transcription	Right Atrium	heart
23	chr15:57251000-57260600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr15:57251000-57261000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr15:57251600-57254800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:57251600-57255400	Weak transcription	Thymus	Thymus
27	chr15:57251800-57255000	Weak transcription	Fetal Lung	lung
28	chr15:57251800-57255200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr15:57251800-57255400	Weak transcription	Fetal Heart	heart
30	chr15:57251800-57255400	Weak transcription	NH-A	brain
31	chr15:57251800-57255600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr15:57251800-57255800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr15:57251800-57256000	Weak transcription	Left Ventricle	heart
34	chr15:57251800-57256000	Weak transcription	NHEK	skin
35	chr15:57251800-57256200	Weak transcription	HSMM	muscle
36	chr15:57251800-57260800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:57252000-57255400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr15:57252200-57255400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr15:57252400-57255600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr15:57252400-57256000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:57252600-57254800	Weak transcription	Brain Hippocampus Middle	brain
42	chr15:57252600-57255600	Weak transcription	Liver	Liver
43	chr15:57252600-57255600	Weak transcription	Osteobl	bone
44	chr15:57252600-57256200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:57252800-57255000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:57252800-57255400	Weak transcription	Brain Anterior Caudate	brain
47	chr15:57253000-57255400	Weak transcription	Fetal Thymus	thymus
48	chr15:57253000-57256000	Weak transcription	Psoas Muscle	Psoas
49	chr15:57253400-57256800	Enhancers	Dnd41	blood
50	chr15:57253800-57259000	Enhancers	A549	lung

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