Variant report

Variant	rs2044516
Chromosome Location	chr2:173828728-173828729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10497390	1.00[CEU][hapmap]
rs11897801	1.00[CEU][hapmap]
rs16861119	1.00[CEU][hapmap]
rs16861121	1.00[CEU][hapmap]
rs16861133	1.00[CEU][hapmap]
rs16861161	1.00[CEU][hapmap]
rs1986155	1.00[CEU][hapmap]
rs2468389	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2676499	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs41414646	1.00[CEU][hapmap]
rs41514546	1.00[CEU][hapmap]
rs6705188	0.85[CEU][hapmap]
rs6713228	1.00[CEU][hapmap]
rs6719635	1.00[CEU][hapmap]
rs6722709	1.00[CEU][hapmap]
rs6727383	1.00[CEU][hapmap]
rs6734119	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs938668	1.00[CEU][hapmap];0.92[EUR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173800600-173829400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:173807800-173831600	Weak transcription	Left Ventricle	heart
3	chr2:173816600-173831800	Weak transcription	Lung	lung
4	chr2:173820800-173830400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:173822400-173835000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:173823000-173832200	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:173823200-173829600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:173824000-173830600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:173825200-173830200	Weak transcription	Brain Anterior Caudate	brain
10	chr2:173825600-173829400	Enhancers	HUVEC	blood vessel
11	chr2:173826600-173830400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:173827000-173831600	Weak transcription	Pancreas	Pancrea
13	chr2:173827600-173832200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:173828000-173829200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:173828000-173829200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:173828000-173829200	Weak transcription	NHDF-Ad	bronchial
17	chr2:173828000-173829200	Weak transcription	NHLF	lung
18	chr2:173828000-173829400	Weak transcription	Fetal Thymus	thymus
19	chr2:173828000-173829600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:173828000-173830600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:173828000-173832400	Weak transcription	Hela-S3	cervix
22	chr2:173828000-173832600	Weak transcription	HMEC	breast
23	chr2:173828000-173833200	Weak transcription	Primary T cells from cord blood	blood
24	chr2:173828400-173831600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:173828400-173832800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:173828600-173829600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:173828600-173830600	Weak transcription	Adipose Nuclei	Adipose
28	chr2:173828600-173833400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr2:173828600-173835600	Weak transcription	Fetal Intestine Large	intestine

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