Variant report

Variant	rs72858918
Chromosome Location	chr2:30775239-30775240
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30774593..30776750-chr2:30778059..30780938,2	K562	blood:
2	chr2:30770020..30771587-chr2:30774146..30775763,2	K562	blood:
3	chr2:30769544..30771587-chr2:30773523..30775646,2	K562	blood:
4	chr2:30674853..30676516-chr2:30772425..30775355,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17009647	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17009802	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17009815	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57890362	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58730941	1.00[AMR][1000 genomes]
rs59120669	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59228351	1.00[AMR][1000 genomes]
rs59450374	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60821673	0.87[AMR][1000 genomes]
rs60847386	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61006780	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61232451	1.00[AMR][1000 genomes]
rs6714637	1.00[AMR][1000 genomes]
rs6718986	1.00[AMR][1000 genomes]
rs6761612	1.00[AMR][1000 genomes]
rs72856691	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858915	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858941	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858980	0.81[AFR][1000 genomes]
rs72858981	0.82[AFR][1000 genomes]
rs72858988	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858990	0.85[AMR][1000 genomes]
rs72863005	0.85[AMR][1000 genomes]
rs72863019	1.00[AMR][1000 genomes]
rs72863027	1.00[AMR][1000 genomes]
rs7557310	0.87[AMR][1000 genomes]
rs7578150	0.87[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30749000-30812600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:30757800-30809000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:30758200-30795000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
5	chr2:30758800-30784400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:30758800-30785000	Weak transcription	Left Ventricle	heart
7	chr2:30758800-30809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:30759000-30785200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:30759200-30805600	Weak transcription	K562	blood
10	chr2:30759400-30785000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:30759400-30785000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:30759400-30785000	Weak transcription	Dnd41	blood
13	chr2:30759600-30786000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:30764000-30792400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:30764400-30784200	Weak transcription	Primary B cells from cord blood	blood
16	chr2:30765000-30793600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:30766800-30810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:30770000-30784200	Weak transcription	HepG2	liver
19	chr2:30771400-30782600	Weak transcription	Fetal Heart	heart
20	chr2:30773400-30792200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:30773800-30775600	Strong transcription	Primary T cells from cord blood	blood
22	chr2:30773800-30785000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:30774000-30777400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:30774200-30785200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:30774200-30793200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:30774600-30785200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:30774600-30790200	Weak transcription	A549	lung
28	chr2:30774600-30790400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:30774800-30785000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:30774800-30812000	Weak transcription	Fetal Lung	lung
31	chr2:30775000-30775600	Strong transcription	Primary hematopoietic stem cells	blood
32	chr2:30775000-30775800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:30775000-30776200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:30775000-30778800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:30775000-30785600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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