Variant report

Variant	rs2089367
Chromosome Location	chr1:92055579-92055580
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92053069..92056017-chr1:92057570..92059877,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10782968	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11165059	0.93[EUR][1000 genomes]
rs11165064	0.89[EUR][1000 genomes]
rs1508590	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1508592	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1551581	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2089368	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4658233	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4658234	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6684347	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72712451	0.89[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92049400-92056400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:92049600-92061600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:92051000-92056400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:92051200-92056400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:92051400-92056600	Weak transcription	Primary T cells from cord blood	blood
6	chr1:92051600-92056000	Weak transcription	Fetal Thymus	thymus
7	chr1:92051600-92056400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:92051600-92056800	Weak transcription	Left Ventricle	heart
9	chr1:92051600-92058000	Weak transcription	Right Ventricle	heart
10	chr1:92051600-92060000	Weak transcription	Lung	lung
11	chr1:92051800-92055800	Weak transcription	Placenta	Placenta
12	chr1:92051800-92056800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:92051800-92058200	Weak transcription	Right Atrium	heart
14	chr1:92051800-92067600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:92052000-92056000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:92052200-92056000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:92052200-92056200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:92052200-92056400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:92052200-92056600	Weak transcription	Primary B cells from cord blood	blood
20	chr1:92052200-92056800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:92052200-92057000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:92053600-92055800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:92054200-92055600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:92054400-92057400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:92054600-92056800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr1:92054600-92057200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:92054800-92055600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:92054800-92056800	Enhancers	K562	blood
29	chr1:92055000-92055600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:92055000-92055600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:92055000-92055600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:92055000-92055600	Enhancers	Fetal Heart	heart
33	chr1:92055000-92056400	Enhancers	Fetal Stomach	stomach
34	chr1:92055000-92057000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:92055000-92057400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:92055000-92060800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr1:92055200-92056000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:92055200-92056200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:92055400-92061200	Enhancers	Ovary	ovary

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