Variant report

Variant	rs4469405
Chromosome Location	chr7:50669123-50669124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10486757	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1107743	1.00[ASW][hapmap]
rs11575282	0.82[GIH][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11575286	0.82[GIH][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11575313	0.82[EUR][1000 genomes]
rs11575321	0.82[EUR][1000 genomes]
rs11575322	1.00[ASW][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs11575338	0.82[EUR][1000 genomes]
rs11575349	0.82[EUR][1000 genomes]
rs11575500	1.00[AFR][1000 genomes]
rs11575548	1.00[ASW][hapmap]
rs1349491	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17544225	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17634958	1.00[ASW][hapmap]
rs2100279	0.82[EUR][1000 genomes]
rs2190499	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2190500	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2237439	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2299151	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2299152	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2876830	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3735271	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3807550	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3807551	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3807553	1.00[ASW][hapmap];0.82[GIH][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs4947406	0.85[CHD][hapmap]
rs4947710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55834323	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123220	0.81[EUR][1000 genomes]
rs73123247	0.82[EUR][1000 genomes]
rs73123249	0.82[EUR][1000 genomes]
rs73123251	0.82[EUR][1000 genomes]
rs73123254	0.82[EUR][1000 genomes]
rs73123257	0.81[EUR][1000 genomes]
rs73123261	0.82[EUR][1000 genomes]
rs73123264	0.82[EUR][1000 genomes]
rs73123266	0.82[EUR][1000 genomes]
rs73123283	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73123285	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73123291	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73125208	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73125215	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73125225	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73129082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73129084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73129088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73129091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73129096	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73131006	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73131008	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73131013	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73131015	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73131078	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9656664	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4469405	ADAM11	trans	cerebellum	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50652000-50671800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:50652400-50687400	Weak transcription	Right Atrium	heart
3	chr7:50653200-50672400	Weak transcription	NHEK	skin
4	chr7:50653400-50670600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:50654000-50680000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:50657200-50670800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:50657200-50678000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:50657800-50670600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:50658200-50675800	Strong transcription	HSMMtube	muscle
10	chr7:50658200-50682000	Weak transcription	Colonic Mucosa	Colon
11	chr7:50658200-50690400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:50658400-50670800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:50658600-50670800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:50658800-50669200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:50658800-50669600	Weak transcription	HSMM	muscle
16	chr7:50658800-50671000	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:50658800-50673200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:50658800-50686800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:50658800-50690000	Weak transcription	Fetal Kidney	kidney
20	chr7:50659000-50678600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:50659200-50672200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:50659200-50677000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:50659200-50680000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:50659200-50683600	Weak transcription	Small Intestine	intestine
25	chr7:50659400-50675800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:50659600-50675600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:50659800-50671000	Weak transcription	Fetal Intestine Large	intestine
28	chr7:50659800-50679000	Weak transcription	NHDF-Ad	bronchial
29	chr7:50659800-50687800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:50659800-50697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:50660000-50675600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:50660400-50673400	Weak transcription	Fetal Brain Female	brain
33	chr7:50660600-50670800	Weak transcription	Brain Germinal Matrix	brain
34	chr7:50660600-50688000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:50660800-50673400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:50661000-50670000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:50661000-50670800	Weak transcription	Brain Anterior Caudate	brain
38	chr7:50661000-50673600	Weak transcription	Esophagus	oesophagus
39	chr7:50661200-50670800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:50662000-50671000	Weak transcription	NHLF	lung
41	chr7:50662200-50671000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:50662400-50670800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr7:50662800-50669600	Weak transcription	Psoas Muscle	Psoas
44	chr7:50662800-50671400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:50663000-50671200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:50663200-50671000	Weak transcription	A549	lung
47	chr7:50663600-50669600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:50663800-50674400	Strong transcription	Left Ventricle	heart
49	chr7:50663800-50675800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:50664600-50670800	Weak transcription	Fetal Brain Male	brain

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