Variant report

Variant	rs1289273
Chromosome Location	chr1:226909233-226909234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226907282..226909315-chr1:226911559..226915839,4	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3768414	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6667260	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226891600-226910200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:226891800-226924800	Weak transcription	Aorta	Aorta
3	chr1:226893400-226918800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:226896200-226909800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:226896600-226910600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:226897000-226910200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:226899200-226911000	Weak transcription	Fetal Lung	lung
8	chr1:226899400-226910000	Weak transcription	Gastric	stomach
9	chr1:226899600-226911800	Weak transcription	Small Intestine	intestine
10	chr1:226900600-226910200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:226900800-226909600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:226900800-226910000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:226900800-226911000	Weak transcription	HUVEC	blood vessel
14	chr1:226901200-226910800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:226901800-226910200	Weak transcription	Placenta	Placenta
16	chr1:226902000-226909800	Weak transcription	Fetal Kidney	kidney
17	chr1:226902800-226910600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:226903000-226911000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:226904000-226911800	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr1:226905200-226910000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:226905400-226911200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:226905600-226909800	Weak transcription	Adipose Nuclei	Adipose
23	chr1:226905600-226910200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr1:226905600-226910600	Weak transcription	Right Atrium	heart
25	chr1:226905600-226911000	Weak transcription	Hela-S3	cervix
26	chr1:226905600-226911000	Weak transcription	NH-A	brain
27	chr1:226905600-226911200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:226905600-226911600	Weak transcription	NHLF	lung
29	chr1:226905800-226909600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr1:226905800-226909600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:226905800-226909800	Weak transcription	Spleen	Spleen
32	chr1:226905800-226911200	Weak transcription	NHEK	skin
33	chr1:226906200-226909800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:226906800-226909600	Weak transcription	Fetal Intestine Small	intestine
35	chr1:226906800-226910400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:226907400-226909800	Weak transcription	Primary B cells from cord blood	blood
37	chr1:226907600-226909800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:226907600-226910000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr1:226907600-226910000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr1:226907600-226910400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:226907600-226910600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:226907600-226910800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:226907600-226910800	Weak transcription	Esophagus	oesophagus
44	chr1:226907600-226910800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:226907800-226909600	Weak transcription	Fetal Stomach	stomach
46	chr1:226907800-226909800	Weak transcription	GM12878-XiMat	blood
47	chr1:226907800-226910800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:226907800-226911600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:226908000-226910400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:226908200-226909600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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