Variant report

Variant	rs539048
Chromosome Location	chr1:91988231-91988232
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10782970	1.00[EUR][1000 genomes]
rs11165144	1.00[EUR][1000 genomes]
rs11165243	1.00[EUR][1000 genomes]
rs12057280	1.00[EUR][1000 genomes]
rs12075049	1.00[EUR][1000 genomes]
rs13447567	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13447569	1.00[EUR][1000 genomes]
rs1508591	1.00[EUR][1000 genomes]
rs17131494	1.00[EUR][1000 genomes]
rs17131517	1.00[EUR][1000 genomes]
rs477003	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs544077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs546872	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6669300	1.00[EUR][1000 genomes]
rs72952927	1.00[EUR][1000 genomes]
rs7520738	0.91[AMR][1000 genomes];1.00[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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91967200-91989000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:91967400-91989000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:91967600-91990600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:91967800-92009600	Weak transcription	Thymus	Thymus
5	chr1:91968000-91991600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:91968400-91992000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:91968600-91989000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:91968600-91991000	Weak transcription	Fetal Stomach	stomach
9	chr1:91968800-91989000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:91968800-91991200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:91969200-91989000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:91970800-91988800	Weak transcription	Fetal Brain Male	brain
13	chr1:91971000-91989000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:91971000-91991200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:91972400-91992400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:91972800-91989000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr1:91974400-91992000	Weak transcription	HUVEC	blood vessel
18	chr1:91974800-91991000	Strong transcription	Dnd41	blood
19	chr1:91975000-91995200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:91975600-91991600	Weak transcription	NHLF	lung
21	chr1:91977600-91992600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:91977800-91995200	Weak transcription	HMEC	breast
23	chr1:91978800-91993400	Weak transcription	Osteobl	bone
24	chr1:91980000-91991600	Weak transcription	Placenta	Placenta
25	chr1:91980200-91992000	Weak transcription	Fetal Kidney	kidney
26	chr1:91980400-91991600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:91980600-91992400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:91980600-91995800	Weak transcription	HSMM	muscle
29	chr1:91981000-91991600	Weak transcription	Brain Germinal Matrix	brain
30	chr1:91981000-91995200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:91983000-92002600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:91983200-91988400	Weak transcription	A549	lung
33	chr1:91983200-91988600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:91983200-91989000	Weak transcription	Primary T cells from cord blood	blood
35	chr1:91983200-91989600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr1:91983200-91995400	Weak transcription	Hela-S3	cervix
37	chr1:91983200-91995400	Weak transcription	NHEK	skin
38	chr1:91983400-91991400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:91983400-91995000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:91983400-91995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:91983600-91988800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:91984000-91991600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:91984200-91991200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:91984400-91988600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:91984400-91992200	Weak transcription	Fetal Thymus	thymus
46	chr1:91984400-91994000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:91984400-91998000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:91984600-91994400	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:91984600-91995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:91984600-91997800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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