Variant report

Variant	rs7528744
Chromosome Location	chr1:62242938-62242939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1833048	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs525523	1.00[EUR][1000 genomes]
rs525526	1.00[EUR][1000 genomes]
rs535242	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3693319	chr1:62207254-62402549	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62210000-62253400	Weak transcription	Pancreas	Pancrea
2	chr1:62212200-62254400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:62212800-62255400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:62213600-62253000	Weak transcription	Fetal Kidney	kidney
5	chr1:62213600-62263200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:62217600-62254600	Weak transcription	Fetal Stomach	stomach
7	chr1:62219200-62246600	Weak transcription	Stomach Mucosa	stomach
8	chr1:62220200-62290200	Weak transcription	Lung	lung
9	chr1:62220200-62310800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:62221000-62246400	Weak transcription	Primary T cells from cord blood	blood
11	chr1:62221800-62263000	Weak transcription	Colonic Mucosa	Colon
12	chr1:62222000-62293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:62222200-62260800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:62222800-62258400	Weak transcription	Esophagus	oesophagus
15	chr1:62224000-62247200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:62224000-62263000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:62224000-62267600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:62224000-62290800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:62224400-62253400	Weak transcription	Ovary	ovary
20	chr1:62224600-62247400	Weak transcription	Gastric	stomach
21	chr1:62224600-62263000	Weak transcription	Left Ventricle	heart
22	chr1:62225000-62284400	Weak transcription	Psoas Muscle	Psoas
23	chr1:62226200-62248000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:62227400-62245600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:62227800-62294600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:62228600-62245600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:62228600-62391800	Weak transcription	Small Intestine	intestine
28	chr1:62229000-62243800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:62230600-62246800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:62230600-62253600	Weak transcription	Adipose Nuclei	Adipose
31	chr1:62231800-62273400	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:62232200-62262800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:62232800-62267200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:62233000-62246000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:62233000-62263000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:62233200-62263800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:62233400-62254800	Weak transcription	Fetal Lung	lung
38	chr1:62233400-62264200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:62233400-62288800	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:62233800-62246600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:62235000-62246400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:62235400-62245000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:62235400-62246200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:62235400-62246400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:62235400-62253200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:62235400-62253400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:62235400-62263200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:62235400-62288800	Weak transcription	A549	lung
49	chr1:62235600-62246400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:62235600-62246800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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