Variant report

Variant	rs2468389
Chromosome Location	chr2:173827431-173827432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173825495..173828326-chr2:173831575..173833480,2	K562	blood:
2	chr2:173825847..173828326-chr2:173831575..173833559,2	K562	blood:
3	chr2:173818468..173819994-chr2:173826020..173827829,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091428	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10490703	0.93[YRI][hapmap]
rs10497390	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11884510	0.85[EUR][1000 genomes]
rs11890301	0.85[EUR][1000 genomes]
rs11895261	0.85[EUR][1000 genomes]
rs11897801	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs16861119	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs16861121	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs16861122	0.85[EUR][1000 genomes]
rs16861133	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs16861161	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs16861288	1.00[CHB][hapmap]
rs1986155	1.00[CEU][hapmap]
rs2044516	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2553005	0.82[EUR][1000 genomes]
rs2553006	0.91[AMR][1000 genomes]
rs2676499	1.00[CEU][hapmap];0.92[LWK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2676505	0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41414646	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs41473447	0.85[EUR][1000 genomes]
rs41514546	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4989335	0.85[EUR][1000 genomes]
rs4989336	0.85[EUR][1000 genomes]
rs55667313	0.85[EUR][1000 genomes]
rs55815300	0.85[EUR][1000 genomes]
rs56041203	0.85[EUR][1000 genomes]
rs56281308	0.85[EUR][1000 genomes]
rs57619371	0.85[EUR][1000 genomes]
rs58634128	0.85[EUR][1000 genomes]
rs59492040	0.85[EUR][1000 genomes]
rs60761259	0.85[EUR][1000 genomes]
rs61542186	0.85[EUR][1000 genomes]
rs6433385	1.00[CHD][hapmap]
rs6705188	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6707251	0.85[EUR][1000 genomes]
rs6707359	0.85[EUR][1000 genomes]
rs6713228	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6719635	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6722709	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6727383	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6734119	1.00[CEU][hapmap];0.91[GIH][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6738094	0.85[EUR][1000 genomes]
rs6738441	0.85[EUR][1000 genomes]
rs6740103	0.86[YRI][hapmap]
rs73977748	0.85[EUR][1000 genomes]
rs73977749	0.85[EUR][1000 genomes]
rs73977751	0.85[EUR][1000 genomes]
rs73977753	0.85[EUR][1000 genomes]
rs73977754	0.85[EUR][1000 genomes]
rs73977755	0.85[EUR][1000 genomes]
rs73977757	0.85[EUR][1000 genomes]
rs938668	1.00[CEU][hapmap];1.00[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:33 , 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	chr2:173826600-173827800	Weak transcription	Fetal Thymus	thymus
12	chr2:173826600-173828000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:173826600-173830400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:173826800-173828000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:173826800-173828000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:173826800-173828000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:173826800-173828000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:173826800-173828000	Enhancers	Hela-S3	cervix
19	chr2:173826800-173828000	Enhancers	HMEC	breast
20	chr2:173826800-173828000	Enhancers	NHEK	skin
21	chr2:173826800-173828400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:173826800-173828600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr2:173826800-173828600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr2:173827000-173828000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr2:173827000-173828000	Enhancers	NHDF-Ad	bronchial
26	chr2:173827000-173828000	Enhancers	NHLF	lung
27	chr2:173827000-173828000	Enhancers	Osteobl	bone
28	chr2:173827000-173828200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:173827000-173831600	Weak transcription	Pancreas	Pancrea
30	chr2:173827200-173827600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:173827200-173828400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:173827400-173828000	Enhancers	Dnd41	blood
33	chr2:173827400-173828600	Enhancers	Adipose Nuclei	Adipose

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