Variant report

Variant	rs72778633
Chromosome Location	chr5:100220394-100220395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55776301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55906031	1.00[AMR][1000 genomes]
rs72776667	1.00[AFR][1000 genomes]
rs72778632	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72778647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72778675	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv1834675	chr5:100143084-100535029	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100191200-100224400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:100191200-100225200	Weak transcription	Fetal Lung	lung
3	chr5:100195000-100220400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:100200200-100234400	Weak transcription	Fetal Brain Male	brain
5	chr5:100207600-100225000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:100208000-100235800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:100208800-100223600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:100209600-100220800	Strong transcription	Primary B cells from cord blood	blood
9	chr5:100209600-100225600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:100210200-100222600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:100210400-100223800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:100213200-100223400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr5:100213800-100223600	Weak transcription	Spleen	Spleen
14	chr5:100214000-100224400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr5:100214600-100220800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:100214800-100222200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:100215400-100224000	Weak transcription	Colonic Mucosa	Colon
18	chr5:100215600-100222000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:100216200-100220400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:100217000-100225000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr5:100217400-100224400	ZNF genes & repeats	GM12878-XiMat	blood
22	chr5:100218200-100220400	Strong transcription	Primary T cells from cord blood	blood
23	chr5:100218400-100222400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:100218800-100220400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:100218800-100221000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr5:100218800-100222200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:100218800-100223200	Strong transcription	Fetal Thymus	thymus
28	chr5:100218800-100223800	Weak transcription	Fetal Brain Female	brain
29	chr5:100218800-100224200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr5:100218800-100225000	Weak transcription	Adipose Nuclei	Adipose
31	chr5:100218800-100225800	Weak transcription	Placenta	Placenta
32	chr5:100219000-100221800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:100219000-100233400	Weak transcription	Brain Germinal Matrix	brain
34	chr5:100219200-100226200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:100219600-100220800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr5:100219600-100225000	Weak transcription	Thymus	Thymus
37	chr5:100220000-100220800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr5:100220000-100220800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:100220000-100221000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:100220000-100221000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr5:100220200-100220600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
42	chr5:100220200-100220600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:100220200-100220800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
44	chr5:100220200-100220800	Enhancers	HUVEC	blood vessel
45	chr5:100220200-100221000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:100220200-100224600	Genic enhancers	Dnd41	blood

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