Variant report

Variant	rs72683621
Chromosome Location	chr1:78011209-78011210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17381128	1.00[EUR][1000 genomes]
rs17381238	1.00[EUR][1000 genomes]
rs56259955	0.81[AMR][1000 genomes]
rs6657424	0.92[EUR][1000 genomes]
rs6702968	0.92[EUR][1000 genomes]
rs72683614	1.00[EUR][1000 genomes]
rs72683624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683632	1.00[EUR][1000 genomes]
rs72683638	1.00[EUR][1000 genomes]
rs72683639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683647	1.00[EUR][1000 genomes]
rs72683657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683700	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685306	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685313	1.00[EUR][1000 genomes]
rs7517486	0.92[EUR][1000 genomes]
rs7546981	0.92[EUR][1000 genomes]
rs7550626	0.92[EUR][1000 genomes]
rs9661264	0.92[EUR][1000 genomes]

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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv871143	chr1:77955577-78031994	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1533	chr1:77990504-78036279	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77998000-78014000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:78000000-78011600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr1:78000000-78030600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:78000000-78031200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:78005600-78014000	Weak transcription	Right Ventricle	heart
6	chr1:78005600-78034800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:78005800-78014000	Weak transcription	Right Atrium	heart
8	chr1:78005800-78026200	Weak transcription	Left Ventricle	heart
9	chr1:78005800-78032400	Weak transcription	Psoas Muscle	Psoas
10	chr1:78006000-78011400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:78006000-78013600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:78006000-78014000	Weak transcription	Brain Substantia Nigra	brain
13	chr1:78006000-78022400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:78006000-78026200	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:78006000-78031000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:78006200-78011400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:78006200-78024400	Weak transcription	HSMMtube	muscle
18	chr1:78006200-78027200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:78006200-78064400	Weak transcription	Stomach Mucosa	stomach
20	chr1:78006400-78011400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:78006400-78011600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:78007200-78011400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:78007800-78028400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:78008000-78011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:78008000-78011800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:78009000-78011400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:78009000-78011400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:78009000-78011600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:78009000-78011600	Weak transcription	HSMM	muscle
30	chr1:78009000-78014200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:78009000-78023200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:78009400-78011600	Genic enhancers	NHDF-Ad	bronchial
33	chr1:78009800-78012600	Strong transcription	Primary T cells from cord blood	blood
34	chr1:78010000-78027400	Weak transcription	A549	lung
35	chr1:78010400-78012600	Enhancers	Fetal Heart	heart
36	chr1:78010600-78013800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:78010800-78011400	Enhancers	Brain Angular Gyrus	brain
38	chr1:78010800-78011800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:78010800-78012000	Enhancers	NH-A	brain
40	chr1:78010800-78012600	Enhancers	Osteobl	bone
41	chr1:78010800-78017400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:78011000-78011400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:78011000-78011400	Weak transcription	Brain Anterior Caudate	brain
44	chr1:78011000-78011600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:78011000-78012200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:78011000-78013800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:78011000-78014000	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:78011200-78011400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:78011200-78012000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:78011200-78012200	Enhancers	NHLF	lung

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