Variant report

Variant	rs72685316
Chromosome Location	chr1:78299686-78299687
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56830324	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57314531	0.85[AFR][1000 genomes]
rs58404594	0.82[AMR][1000 genomes]
rs60290283	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61145372	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74092308	0.89[AFR][1000 genomes]
rs9663066	0.81[AFR][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	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv1004327	chr1:78212804-78352385	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78252200-78315800	Weak transcription	Esophagus	oesophagus
2	chr1:78275000-78312800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:78279200-78300400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:78280600-78325600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:78281000-78308800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:78281200-78316400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:78282800-78353400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:78284400-78303200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:78284600-78333000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:78285000-78310200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:78285600-78332000	Weak transcription	Spleen	Spleen
12	chr1:78285800-78308800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:78286400-78333200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:78286600-78312800	Weak transcription	Thymus	Thymus
15	chr1:78286600-78328400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:78287400-78310800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:78288200-78309000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:78290200-78300000	Weak transcription	Fetal Intestine Large	intestine
19	chr1:78290200-78334200	Weak transcription	Gastric	stomach
20	chr1:78291000-78299800	Weak transcription	Placenta	Placenta
21	chr1:78292400-78301000	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:78293400-78299800	Weak transcription	Lung	lung
23	chr1:78293400-78301000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:78293600-78300400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:78293800-78300400	Weak transcription	Liver	Liver
26	chr1:78294200-78299800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:78294200-78309200	Weak transcription	Brain Germinal Matrix	brain
28	chr1:78294800-78309000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:78295000-78300600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr1:78295200-78301000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:78295200-78318400	Weak transcription	Ovary	ovary
32	chr1:78295400-78305000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:78295400-78309000	Weak transcription	Left Ventricle	heart
34	chr1:78295600-78301000	Enhancers	HUVEC	blood vessel
35	chr1:78295800-78303200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:78295800-78304800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:78296000-78301400	Enhancers	HSMMtube	muscle
38	chr1:78296200-78301200	Enhancers	NH-A	brain
39	chr1:78296200-78302400	Strong transcription	Dnd41	blood
40	chr1:78296400-78301200	Enhancers	NHLF	lung
41	chr1:78296400-78302200	Enhancers	Fetal Lung	lung
42	chr1:78296400-78302400	Strong transcription	Primary T cells from cord blood	blood
43	chr1:78296600-78301000	Strong transcription	Primary B cells from cord blood	blood
44	chr1:78296600-78301400	Enhancers	Fetal Stomach	stomach
45	chr1:78296800-78301000	Enhancers	NHDF-Ad	bronchial
46	chr1:78296800-78329000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:78297000-78301400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:78297200-78299800	Enhancers	HMEC	breast
49	chr1:78297400-78299800	Enhancers	Brain Cingulate Gyrus	brain
50	chr1:78297400-78299800	Enhancers	Brain Inferior Temporal Lobe	brain

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