Variant report

Variant	rs792450
Chromosome Location	chr1:212561225-212561226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212554525..212557472-chr1:212560250..212563380,3	K562	blood:
2	chr1:212554926..212556448-chr1:212559931..212561750,2	K562	blood:
3	chr1:212559670..212562304-chr1:212569400..212571450,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1086892	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1086894	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1086895	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs640526	0.86[EUR][1000 genomes]
rs792451	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][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	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212502600-212563400	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr1:212502600-212564600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:212526800-212582800	Weak transcription	Fetal Brain Male	brain
4	chr1:212528400-212583000	Weak transcription	Fetal Kidney	kidney
5	chr1:212529400-212562400	Strong transcription	Dnd41	blood
6	chr1:212529800-212563200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:212534000-212570200	Weak transcription	HSMM	muscle
8	chr1:212534400-212570600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:212535000-212561400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:212536200-212561600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:212538000-212571000	Weak transcription	NH-A	brain
12	chr1:212540400-212575400	Weak transcription	HUVEC	blood vessel
13	chr1:212540600-212562600	Weak transcription	Osteobl	bone
14	chr1:212540600-212564000	Weak transcription	Stomach Mucosa	stomach
15	chr1:212542800-212561600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:212543600-212565200	Weak transcription	Fetal Lung	lung
17	chr1:212547000-212562600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:212547000-212563400	Strong transcription	Fetal Thymus	thymus
19	chr1:212547400-212562400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:212547400-212562400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:212548600-212563800	Strong transcription	Primary T cells from cord blood	blood
22	chr1:212550400-212562800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:212551400-212561800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:212552000-212562000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:212553000-212562600	Strong transcription	GM12878-XiMat	blood
26	chr1:212553200-212562000	Weak transcription	Liver	Liver
27	chr1:212553200-212569400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:212553200-212578400	Weak transcription	K562	blood
29	chr1:212554600-212562400	Strong transcription	Thymus	Thymus
30	chr1:212554800-212562400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:212554800-212562600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:212555400-212563200	Weak transcription	Psoas Muscle	Psoas
33	chr1:212555600-212561600	Strong transcription	Esophagus	oesophagus
34	chr1:212555600-212562600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:212556000-212562200	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr1:212556200-212562200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:212556600-212562800	Strong transcription	Primary B cells from cord blood	blood
38	chr1:212556800-212587600	Weak transcription	Small Intestine	intestine
39	chr1:212558000-212562400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:212558200-212562000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:212558600-212578800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:212558600-212580000	Weak transcription	Left Ventricle	heart
43	chr1:212558800-212561600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr1:212559000-212562400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:212559200-212564800	Weak transcription	HMEC	breast
46	chr1:212559400-212563600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:212559600-212562200	Weak transcription	A549	lung
48	chr1:212559800-212561800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr1:212560000-212562600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:212560000-212562800	Strong transcription	Primary T cells fromperipheralblood	blood

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