Variant report

Variant	rs28548127
Chromosome Location	chr15:42746954-42746955
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	chr15:42726730..42728462-chr15:42744444..42747241,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28491449	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28557406	0.87[AMR][1000 genomes]
rs28650274	0.89[AMR][1000 genomes]

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	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42694600-42750600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr15:42700800-42747200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:42701200-42766600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr15:42702200-42750200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr15:42705800-42749200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:42709800-42747000	Weak transcription	Stomach Mucosa	stomach
7	chr15:42711800-42749200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:42720400-42759200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr15:42721800-42747400	Strong transcription	HSMM	muscle
10	chr15:42733200-42747400	Strong transcription	Placenta	Placenta
11	chr15:42733400-42747000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr15:42733400-42747200	Strong transcription	Primary B cells from cord blood	blood
13	chr15:42733400-42748000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:42737000-42747200	Strong transcription	Osteobl	bone
15	chr15:42737200-42764800	Weak transcription	A549	lung
16	chr15:42738600-42747200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:42740800-42749200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:42741800-42747200	Strong transcription	Fetal Intestine Large	intestine
19	chr15:42742600-42749200	Weak transcription	Pancreas	Pancrea
20	chr15:42743200-42750200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr15:42743800-42749400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:42744000-42747000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr15:42744000-42747400	Weak transcription	Aorta	Aorta
24	chr15:42744000-42747800	Weak transcription	Psoas Muscle	Psoas
25	chr15:42744000-42748400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:42744000-42749000	Weak transcription	Brain Angular Gyrus	brain
27	chr15:42744000-42749200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:42744000-42749200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr15:42744000-42749200	Weak transcription	Esophagus	oesophagus
30	chr15:42744000-42757400	Weak transcription	Gastric	stomach
31	chr15:42744000-42757600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:42744200-42747000	Weak transcription	Fetal Kidney	kidney
33	chr15:42744200-42747000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr15:42744200-42747800	Weak transcription	NHLF	lung
35	chr15:42744200-42748000	Weak transcription	Adipose Nuclei	Adipose
36	chr15:42744200-42748400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr15:42744200-42748400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr15:42744200-42748400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:42744200-42748600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:42744200-42748600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr15:42744200-42748600	Weak transcription	Brain Hippocampus Middle	brain
42	chr15:42744200-42748800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr15:42744200-42748800	Weak transcription	HUVEC	blood vessel
44	chr15:42744200-42748800	Weak transcription	NH-A	brain
45	chr15:42744200-42749000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:42744200-42749000	Weak transcription	Brain Anterior Caudate	brain
47	chr15:42744200-42749000	Weak transcription	Brain Germinal Matrix	brain
48	chr15:42744200-42749000	Weak transcription	Brain Substantia Nigra	brain
49	chr15:42744200-42749200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr15:42744200-42749200	Weak transcription	H9 Cell Line	embryonic stem cell

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