Variant report

Variant	rs11801902
Chromosome Location	chr1:212361909-212361910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212335240..212337640-chr1:212359354..212362015,2	K562	blood:
2	chr1:212360202..212362074-chr1:212367468..212369758,2	K562	blood:
3	chr1:212360558..212362622-chr1:212375645..212378227,2	K562	blood:
4	chr1:212359998..212362512-chr1:212365289..212368132,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11800208	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17018717	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17018767	0.81[AMR][1000 genomes]
rs17018792	0.81[AMR][1000 genomes]
rs1873299	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1908141	0.81[AMR][1000 genomes]
rs4369290	0.81[AMR][1000 genomes]
rs56410034	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs57461449	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs58031667	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs58388470	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs59665922	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73078504	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73078520	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73078526	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73078536	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs74138110	0.81[AMR][1000 genomes]
rs7530958	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7534621	0.81[AMR][1000 genomes]
rs7536393	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7536704	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs884208	0.81[AMR][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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212358000-212362600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:212359400-212363400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:212359600-212362200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr1:212359600-212362600	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:212359600-212363000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:212359600-212363200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:212359600-212363200	Enhancers	Adipose Nuclei	Adipose
8	chr1:212359600-212363200	Enhancers	Spleen	Spleen
9	chr1:212359800-212362800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr1:212360000-212362800	Weak transcription	Small Intestine	intestine
11	chr1:212360200-212362400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:212360400-212362000	Enhancers	Fetal Thymus	thymus
13	chr1:212360400-212362400	Enhancers	Primary T cells from cord blood	blood
14	chr1:212360400-212363200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:212360400-212365600	Weak transcription	HepG2	liver
16	chr1:212360600-212362800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:212360600-212363000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr1:212360600-212363000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:212360600-212363400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:212360800-212362000	Enhancers	Fetal Muscle Trunk	muscle
21	chr1:212360800-212362000	Enhancers	GM12878-XiMat	blood
22	chr1:212361000-212362800	Enhancers	Esophagus	oesophagus
23	chr1:212361000-212363000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:212361000-212363000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:212361200-212362000	Enhancers	Fetal Muscle Leg	muscle
26	chr1:212361200-212362000	Enhancers	HUVEC	blood vessel
27	chr1:212361200-212362800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:212361200-212362800	Enhancers	Primary B cells from cord blood	blood
29	chr1:212361200-212362800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr1:212361200-212363000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:212361200-212363000	Enhancers	Placenta	Placenta
32	chr1:212361200-212363000	Enhancers	HMEC	breast
33	chr1:212361200-212363600	Enhancers	Lung	lung
34	chr1:212361400-212362200	Enhancers	Stomach Mucosa	stomach
35	chr1:212361400-212363000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr1:212361400-212363200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:212361600-212362600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr1:212361600-212363000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr1:212361800-212362000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:212361800-212362400	Weak transcription	Left Ventricle	heart
41	chr1:212361800-212362800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr1:212361800-212363000	Enhancers	NHEK	skin
43	chr1:212361800-212363200	Enhancers	Right Atrium	heart

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