Variant report

Variant	rs2291627
Chromosome Location	chr15:40259848-40259849
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40241327..40243052-chr15:40257933..40260324,2	K562	blood:

Variant related genes	Relation type
ENSG00000238564	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10152402	0.92[ASN][1000 genomes]
rs12912096	0.93[ASN][1000 genomes]
rs12915244	0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs1627122	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3816901	0.80[ASW][hapmap];0.83[YRI][hapmap]
rs496642	0.96[ASN][1000 genomes]
rs522933	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs547183	0.92[ASN][1000 genomes]
rs8041785	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 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	chr15:40227200-40268400	Weak transcription	Esophagus	oesophagus
2	chr15:40227400-40283400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:40227800-40268400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:40230000-40263000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr15:40230400-40261600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:40231000-40268400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:40232000-40261400	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr15:40232000-40262600	Strong transcription	Liver	Liver
10	chr15:40235000-40263000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:40236000-40260000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:40236600-40303000	Weak transcription	Small Intestine	intestine
13	chr15:40238000-40277800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:40238600-40268200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr15:40238600-40272200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:40238800-40273200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:40239400-40261200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:40239400-40262000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:40239600-40261400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:40239800-40262200	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr15:40240200-40261000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:40240800-40268000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:40241000-40268600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:40241200-40272600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:40241400-40260800	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr15:40241400-40262800	Strong transcription	Fetal Intestine Large	intestine
27	chr15:40243200-40262600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr15:40245600-40262000	Strong transcription	HSMM	muscle
29	chr15:40246000-40261000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:40247400-40261800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:40247800-40260200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr15:40248800-40264400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:40249000-40304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr15:40250000-40263600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr15:40250000-40294800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr15:40250200-40299600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr15:40250800-40265800	Weak transcription	K562	blood
38	chr15:40252800-40262200	Strong transcription	Osteobl	bone
39	chr15:40252800-40262800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:40253000-40273200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr15:40253000-40273800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:40253200-40260800	Strong transcription	HepG2	liver
43	chr15:40253200-40262200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:40253200-40273200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr15:40253400-40261000	Strong transcription	NH-A	brain
46	chr15:40253400-40262000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:40253600-40262200	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr15:40253800-40262600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr15:40254000-40268400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr15:40254200-40262600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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