Variant report

Variant	rs4617548
Chromosome Location	chr11:16133413-16133414
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10741688	0.87[CEU][hapmap]
rs10832555	1.00[CEU][hapmap]
rs11023859	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11023860	1.00[CEU][hapmap];0.85[GIH][hapmap];0.98[TSI][hapmap]
rs1356647	1.00[CEU][hapmap];0.85[GIH][hapmap];0.98[TSI][hapmap]
rs1378305	1.00[CEU][hapmap]
rs1455103	0.83[AFR][1000 genomes]
rs1455104	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs1455109	1.00[CEU][hapmap]
rs1455111	1.00[CEU][hapmap];0.83[GIH][hapmap];0.98[TSI][hapmap]
rs1455115	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs1455117	1.00[CEU][hapmap]
rs1455118	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs1914875	1.00[CEU][hapmap]
rs1949482	1.00[CEU][hapmap]
rs1949483	1.00[CEU][hapmap]
rs2014828	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]
rs2124202	1.00[CEU][hapmap]
rs2168253	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2953060	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3903292	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs4506613	0.80[YRI][hapmap]
rs4545520	0.86[TSI][hapmap]
rs4620684	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap]
rs6486278	1.00[CEU][hapmap]
rs7108091	1.00[CEU][hapmap];0.85[GIH][hapmap];0.98[TSI][hapmap]
rs7112473	1.00[CEU][hapmap]
rs7118395	1.00[CEU][hapmap];0.85[GIH][hapmap];0.98[TSI][hapmap]
rs7125634	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7926424	1.00[CEU][hapmap]
rs7931734	1.00[CEU][hapmap]
rs7941496	0.89[CEU][hapmap];0.98[TSI][hapmap];0.80[EUR][1000 genomes]
rs7950736	1.00[CEU][hapmap]
rs9651573	0.94[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs978294	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4617548	DKFZp686O24166	cis	cerebellum	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16098600-16137000	Weak transcription	Pancreas	Pancrea
2	chr11:16121600-16135400	Weak transcription	Fetal Intestine Large	intestine
3	chr11:16121800-16136800	Weak transcription	Small Intestine	intestine
4	chr11:16127400-16136000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:16131200-16135000	Weak transcription	Fetal Intestine Small	intestine
6	chr11:16131400-16133800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:16131800-16134400	Enhancers	Fetal Kidney	kidney
8	chr11:16132000-16134200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr11:16132000-16134800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr11:16132000-16134800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr11:16132200-16135400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:16132400-16133600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:16132400-16133800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:16132400-16133800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr11:16132400-16134800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:16132400-16135200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:16132600-16134000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:16132600-16134000	Enhancers	HepG2	liver
19	chr11:16132600-16134400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:16133000-16133600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr11:16133000-16133600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:16133000-16133800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:16133000-16134000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:16133000-16136200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:16133200-16133600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:16133200-16133600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr11:16133200-16133600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr11:16133200-16133600	Active TSS	Brain Anterior Caudate	brain
29	chr11:16133200-16133600	Enhancers	Fetal Muscle Trunk	muscle
30	chr11:16133200-16133600	Enhancers	Fetal Muscle Leg	muscle
31	chr11:16133200-16133600	Enhancers	Placenta	Placenta
32	chr11:16133200-16133600	Enhancers	Left Ventricle	heart
33	chr11:16133200-16133600	Enhancers	Psoas Muscle	Psoas
34	chr11:16133200-16133600	Flanking Active TSS	Right Atrium	heart
35	chr11:16133200-16133800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:16133200-16134000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr11:16133200-16134200	Enhancers	Fetal Lung	lung
38	chr11:16133200-16136800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:16133400-16133600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:16133400-16133600	Flanking Active TSS	Liver	Liver
41	chr11:16133400-16133600	Enhancers	Esophagus	oesophagus
42	chr11:16133400-16133600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr11:16133400-16133600	Flanking Active TSS	NHEK	skin
44	chr11:16133400-16133800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:16133400-16133800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:16133400-16134000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr11:16133400-16134400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:16133400-16134800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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