Variant report

Variant	rs28412868
Chromosome Location	chr15:72142144-72142145
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	chr15:72137846..72140290-chr15:72140971..72143287,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16956539	0.86[AFR][1000 genomes]
rs28378110	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28380258	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28408266	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452511	1.00[AMR][1000 genomes]
rs28455109	0.83[AFR][1000 genomes]
rs28483716	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489035	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28497050	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28545732	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28639924	0.83[AFR][1000 genomes]
rs28640231	1.00[AFR][1000 genomes]
rs28653163	0.86[AFR][1000 genomes]
rs28701834	0.86[AFR][1000 genomes]
rs7164646	0.86[AFR][1000 genomes]
rs7171243	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7172177	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8032231	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8039966	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904334	chr15:71737376-72177659	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer 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	11 gene(s)	inside rSNPs	diseases
3	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv569906	chr15:72126034-72218036	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv516871	chr15:72126034-72325595	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72114600-72190600	Weak transcription	Pancreas	Pancrea
2	chr15:72115800-72147000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr15:72116400-72147000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:72117000-72142800	Weak transcription	Stomach Mucosa	stomach
5	chr15:72119200-72171800	Weak transcription	Psoas Muscle	Psoas
6	chr15:72119400-72142400	Weak transcription	Fetal Thymus	thymus
7	chr15:72119800-72142200	Weak transcription	Spleen	Spleen
8	chr15:72120400-72142400	Weak transcription	GM12878-XiMat	blood
9	chr15:72120600-72147400	Weak transcription	Small Intestine	intestine
10	chr15:72120800-72142200	Weak transcription	Colonic Mucosa	Colon
11	chr15:72122200-72189400	Weak transcription	Right Ventricle	heart
12	chr15:72122400-72142200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:72122400-72195000	Weak transcription	NHEK	skin
14	chr15:72122600-72142200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:72122600-72142200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:72122600-72142200	Weak transcription	Lung	lung
17	chr15:72122600-72144600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:72122600-72145600	Weak transcription	Thymus	Thymus
19	chr15:72122600-72171800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:72122600-72185200	Weak transcription	Esophagus	oesophagus
21	chr15:72122600-72195800	Weak transcription	Gastric	stomach
22	chr15:72122800-72142200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:72124800-72145800	Weak transcription	Fetal Heart	heart
24	chr15:72129200-72148000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:72131200-72148200	Strong transcription	Placenta	Placenta
26	chr15:72131600-72147000	Strong transcription	Fetal Muscle Leg	muscle
27	chr15:72131800-72192800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr15:72132000-72145000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr15:72132200-72142200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr15:72134000-72149000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:72135200-72143200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr15:72135200-72146600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:72135200-72147600	Strong transcription	Primary T cells from cord blood	blood
34	chr15:72135600-72143800	Strong transcription	Brain Germinal Matrix	brain
35	chr15:72136000-72142800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:72136200-72148400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr15:72136200-72148400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:72136200-72149000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:72136400-72142600	Strong transcription	HSMM	muscle
40	chr15:72136400-72143800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:72136400-72145600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr15:72136400-72147000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:72136400-72147000	Strong transcription	Adipose Nuclei	Adipose
44	chr15:72136400-72148400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:72136600-72146600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr15:72136800-72146400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr15:72136800-72146400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr15:72136800-72147000	Strong transcription	Primary B cells from cord blood	blood
49	chr15:72137000-72156400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:72137200-72143800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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