Variant report

Variant	rs454828
Chromosome Location	chr5:68426570-68426571
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	chr5:68402335..68404943-chr5:68424563..68427049,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs163191	0.95[CHB][hapmap]
rs163192	0.95[CHB][hapmap]
rs164396	0.95[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap]
rs164572	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs164577	0.95[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap]
rs164578	0.95[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs164581	0.95[CHB][hapmap]
rs164712	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs234262	0.81[JPT][hapmap]
rs240809	0.95[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap]
rs337253	0.95[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap]
rs337256	0.95[CHB][hapmap];0.80[JPT][hapmap]
rs338668	0.95[CHB][hapmap]
rs350111	0.90[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap]
rs350112	0.81[CHD][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv881766	chr5:68401941-68448694	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 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	chr5:68391400-68428800	Weak transcription	Stomach Mucosa	stomach
2	chr5:68391400-68431200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:68392200-68427000	Weak transcription	Fetal Heart	heart
4	chr5:68395000-68428400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:68398600-68427400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:68399000-68428200	Strong transcription	Placenta	Placenta
7	chr5:68400200-68431200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:68402600-68429600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:68402800-68427400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr5:68406000-68427400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:68406000-68430000	Strong transcription	Liver	Liver
12	chr5:68406200-68438400	Weak transcription	Aorta	Aorta
13	chr5:68406400-68431600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:68408200-68426600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr5:68409600-68427600	Strong transcription	Fetal Intestine Large	intestine
16	chr5:68410400-68431800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:68412400-68434600	Weak transcription	Psoas Muscle	Psoas
18	chr5:68412800-68428800	Weak transcription	Colonic Mucosa	Colon
19	chr5:68414200-68427400	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:68415600-68431400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:68416400-68445000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:68417200-68427400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:68418400-68427200	Weak transcription	Esophagus	oesophagus
24	chr5:68418400-68429800	Weak transcription	Pancreas	Pancrea
25	chr5:68418600-68428800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:68418600-68431200	Weak transcription	Gastric	stomach
27	chr5:68419200-68429200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:68419200-68431600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:68419400-68427000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:68419400-68430600	Weak transcription	HUVEC	blood vessel
31	chr5:68419600-68427800	Weak transcription	Fetal Kidney	kidney
32	chr5:68420600-68434800	Weak transcription	Fetal Brain Male	brain
33	chr5:68421000-68429000	Weak transcription	HSMM	muscle
34	chr5:68421000-68431200	Weak transcription	Brain Angular Gyrus	brain
35	chr5:68421200-68431600	Weak transcription	Spleen	Spleen
36	chr5:68421400-68427000	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:68421400-68433400	Weak transcription	Left Ventricle	heart
38	chr5:68421600-68447000	Weak transcription	Ovary	ovary
39	chr5:68421800-68431400	Weak transcription	Lung	lung
40	chr5:68422400-68430000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:68422600-68427000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:68422600-68427600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:68422800-68427600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr5:68423400-68428400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:68423600-68427000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:68423600-68432600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:68423800-68432200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:68424000-68427800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:68424000-68429600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:68424000-68430200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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