Variant report

Variant	rs2014828
Chromosome Location	chr11:16118679-16118680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10741688	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10832555	0.96[CEU][hapmap]
rs11023859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11023860	0.96[CEU][hapmap];0.85[GIH][hapmap];0.98[TSI][hapmap]
rs1356647	0.96[CEU][hapmap];0.85[GIH][hapmap];0.98[TSI][hapmap]
rs1378305	0.96[CEU][hapmap]
rs1455103	0.80[AFR][1000 genomes]
rs1455104	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs1455109	0.96[CEU][hapmap]
rs1455111	0.96[CEU][hapmap];0.83[GIH][hapmap];0.98[TSI][hapmap]
rs1455115	0.96[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs1455117	0.96[CEU][hapmap]
rs1455118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1914875	0.96[CEU][hapmap]
rs1949482	0.96[CEU][hapmap]
rs1949483	0.96[CEU][hapmap]
rs2124202	0.96[CEU][hapmap]
rs2168253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2953060	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3903292	0.96[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs4506613	0.80[YRI][hapmap]
rs4545520	0.81[CEU][hapmap];0.87[TSI][hapmap]
rs4617548	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4620684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs6486278	0.96[CEU][hapmap]
rs7108091	0.96[CEU][hapmap];0.85[GIH][hapmap];0.98[TSI][hapmap]
rs7112473	0.96[CEU][hapmap]
rs7118395	0.96[CEU][hapmap];0.85[GIH][hapmap];0.98[TSI][hapmap]
rs7125634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7926424	0.96[CEU][hapmap]
rs7931734	0.96[CEU][hapmap]
rs7941496	0.92[CEU][hapmap];0.98[TSI][hapmap];0.84[EUR][1000 genomes]
rs7950736	0.96[CEU][hapmap]
rs9651573	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs978294	0.96[CEU][hapmap]

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	nsv553562	chr11:16112180-16220289	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2014828	DKFZp686O24166	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16098600-16137000	Weak transcription	Pancreas	Pancrea
2	chr11:16113000-16119200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:16114800-16119000	Weak transcription	Brain Germinal Matrix	brain
4	chr11:16115400-16119800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr11:16115600-16118800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:16116000-16119200	Weak transcription	Left Ventricle	heart
7	chr11:16116200-16118800	Weak transcription	Liver	Liver
8	chr11:16116200-16119000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:16116200-16119000	Weak transcription	Psoas Muscle	Psoas
10	chr11:16116200-16122200	Weak transcription	Fetal Heart	heart
11	chr11:16116400-16118800	Weak transcription	Fetal Lung	lung
12	chr11:16117200-16118800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:16117400-16122000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:16117400-16123200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:16117600-16120600	Weak transcription	Fetal Intestine Large	intestine
16	chr11:16117800-16118800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:16117800-16120600	Weak transcription	NHLF	lung
18	chr11:16118000-16120600	Weak transcription	HSMM	muscle
19	chr11:16118200-16119000	Enhancers	NHEK	skin
20	chr11:16118200-16119200	Enhancers	A549	lung
21	chr11:16118200-16119800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:16118400-16118800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:16118600-16119000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:16118600-16119200	Flanking Active TSS	HMEC	breast
25	chr11:16118600-16120000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:16118600-16120400	Weak transcription	Muscle Satellite Cultured Cells	--

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