Variant report

Variant	rs2592945
Chromosome Location	chr2:173834639-173834640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1446979	0.90[AMR][1000 genomes]
rs1446980	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1823153	0.90[AMR][1000 genomes]
rs2123506	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2553004	0.81[AMR][1000 genomes]
rs2592938	0.81[AMR][1000 genomes]
rs2592940	0.90[AMR][1000 genomes]
rs2676503	1.00[AMR][1000 genomes]
rs2676516	0.90[AMR][1000 genomes]
rs930624	1.00[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	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr2:173822400-173835000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:173828600-173835600	Weak transcription	Fetal Intestine Large	intestine
3	chr2:173829000-173842800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:173830400-173840400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:173830800-173835000	Enhancers	Thymus	Thymus
6	chr2:173831000-173835800	Enhancers	HUVEC	blood vessel
7	chr2:173831600-173838200	Enhancers	Fetal Thymus	thymus
8	chr2:173831800-173835200	Enhancers	Esophagus	oesophagus
9	chr2:173832000-173835400	Weak transcription	Brain Germinal Matrix	brain
10	chr2:173832200-173850000	Weak transcription	Brain Anterior Caudate	brain
11	chr2:173832600-173850200	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:173832800-173837600	Enhancers	Liver	Liver
13	chr2:173833000-173834800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:173833200-173835400	Enhancers	Primary T cells from cord blood	blood
15	chr2:173833200-173835600	Weak transcription	HMEC	breast
16	chr2:173833400-173835200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:173833600-173835000	Weak transcription	Hela-S3	cervix
18	chr2:173833800-173834800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:173833800-173835000	Weak transcription	Lung	lung
20	chr2:173833800-173835400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:173833800-173835600	Weak transcription	Fetal Stomach	stomach
22	chr2:173833800-173842200	Weak transcription	Fetal Heart	heart
23	chr2:173833800-173845000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:173833800-173855600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:173833800-173859000	Weak transcription	Fetal Intestine Small	intestine
26	chr2:173833800-173860800	Weak transcription	Right Ventricle	heart
27	chr2:173834000-173841800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:173834200-173835000	Weak transcription	Left Ventricle	heart
29	chr2:173834200-173835000	Weak transcription	Right Atrium	heart
30	chr2:173834200-173835800	Enhancers	NHEK	skin
31	chr2:173834200-173836800	Enhancers	Dnd41	blood
32	chr2:173834200-173841400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:173834200-173842200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:173834200-173855800	Weak transcription	Brain Angular Gyrus	brain
35	chr2:173834400-173835000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:173834400-173835800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:173834400-173836000	Enhancers	Fetal Lung	lung
38	chr2:173834600-173835800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links