Variant report

Variant	rs1773720
Chromosome Location	chr1:223363730-223363731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223361957..223364992-chr1:223369104..223372360,3	K562	blood:
2	chr1:223363492..223366488-chr1:223370003..223372066,2	K562	blood:
3	chr1:223357093..223359712-chr1:223361677..223364231,3	MCF-7	breast:
4	chr1:223361935..223364100-chr1:223404912..223406820,2	K562	blood:

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

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

rs_ID	r²[population]
rs1612521	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1624408	1.00[AMR][1000 genomes]
rs1640869	1.00[AMR][1000 genomes]
rs1773721	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1773722	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1773723	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2430411	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2487841	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2609374	1.00[EUR][1000 genomes]
rs35801972	1.00[AMR][1000 genomes]
rs725971	0.97[AFR][1000 genomes];1.00[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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223349800-223375400	Weak transcription	Right Atrium	heart
2	chr1:223361000-223364000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:223361400-223363800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr1:223361400-223365400	Enhancers	Primary T cells from cord blood	blood
5	chr1:223361400-223365400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr1:223361600-223364000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:223361600-223365600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr1:223361800-223364000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:223361800-223366400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr1:223362000-223364200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr1:223362000-223365000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:223362000-223365200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:223362200-223363800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:223362200-223365000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:223362200-223366200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:223362600-223364400	Enhancers	HMEC	breast
17	chr1:223362600-223364400	Enhancers	HSMM	muscle
18	chr1:223362800-223365000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr1:223363000-223363800	Enhancers	Esophagus	oesophagus
20	chr1:223363000-223363800	Enhancers	GM12878-XiMat	blood
21	chr1:223363000-223364200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:223363000-223364400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:223363000-223364400	Enhancers	NH-A	brain
24	chr1:223363200-223363800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:223363200-223363800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:223363200-223364000	Enhancers	Fetal Thymus	thymus
27	chr1:223363200-223364200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:223363200-223364200	Enhancers	Dnd41	blood
29	chr1:223363200-223364200	Enhancers	HSMMtube	muscle
30	chr1:223363200-223364400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:223363200-223364400	Enhancers	NHEK	skin
32	chr1:223363200-223364400	Enhancers	Osteobl	bone
33	chr1:223363200-223370400	Weak transcription	Gastric	stomach
34	chr1:223363400-223363800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr1:223363400-223364400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:223363600-223363800	Bivalent Enhancer	Small Intestine	intestine
37	chr1:223363600-223364000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:223363600-223364000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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