Variant report

Variant	rs11526503
Chromosome Location	chr1:170021356-170021357
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12031030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032699	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12036604	1.00[EUR][1000 genomes]
rs12038006	1.00[EUR][1000 genomes]
rs1330369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1330378	0.84[CHB][hapmap]
rs16862753	1.00[CEU][hapmap]
rs16862773	1.00[CEU][hapmap]
rs16862905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16862931	0.83[JPT][hapmap]
rs16862963	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16862985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790404	1.00[CEU][hapmap]
rs56694179	1.00[EUR][1000 genomes]
rs56919297	1.00[EUR][1000 genomes]
rs58179539	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60882156	0.87[ASN][1000 genomes]
rs61631513	1.00[EUR][1000 genomes]
rs61745741	1.00[EUR][1000 genomes]
rs6681074	0.85[AMR][1000 genomes]
rs6686398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73023503	1.00[EUR][1000 genomes]
rs73023515	1.00[EUR][1000 genomes]
rs73023591	1.00[EUR][1000 genomes]
rs73041152	1.00[EUR][1000 genomes]
rs73041162	1.00[EUR][1000 genomes]
rs74122304	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs74122307	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74122310	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74122311	0.85[AMR][1000 genomes]

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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169952400-170043000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:169984800-170027600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:169993600-170021400	Weak transcription	Fetal Brain Male	brain
4	chr1:169999800-170036600	Weak transcription	Small Intestine	intestine
5	chr1:170002800-170036400	Weak transcription	NHDF-Ad	bronchial
6	chr1:170003600-170027600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:170005200-170025200	Weak transcription	Brain Substantia Nigra	brain
8	chr1:170007000-170026200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:170007600-170031800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:170008200-170032200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:170008800-170031800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:170012200-170027000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:170014000-170025600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:170014000-170032200	Weak transcription	Left Ventricle	heart
15	chr1:170014600-170025200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:170014600-170031400	Weak transcription	GM12878-XiMat	blood
17	chr1:170016000-170031000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:170016000-170031400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:170016400-170025800	Weak transcription	Primary B cells from cord blood	blood
20	chr1:170017200-170025600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:170018200-170025400	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:170018200-170026200	Weak transcription	Esophagus	oesophagus
23	chr1:170018200-170042400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:170018600-170035800	Weak transcription	Liver	Liver
25	chr1:170018800-170022000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:170018800-170022400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:170018800-170023000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:170018800-170023800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:170018800-170026000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:170018800-170026400	Weak transcription	Adipose Nuclei	Adipose
31	chr1:170018800-170026800	Weak transcription	Dnd41	blood
32	chr1:170018800-170027400	Weak transcription	Fetal Brain Female	brain
33	chr1:170018800-170032200	Weak transcription	Ovary	ovary
34	chr1:170018800-170034600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:170018800-170037000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr1:170018800-170040600	Weak transcription	Aorta	Aorta
37	chr1:170019000-170022200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:170019000-170022600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:170019000-170023200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:170019000-170023400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:170019000-170023400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:170019000-170023600	Weak transcription	Fetal Thymus	thymus
43	chr1:170019000-170025400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:170019000-170026000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:170019000-170027200	Weak transcription	Brain Germinal Matrix	brain
46	chr1:170019000-170027400	Weak transcription	Spleen	Spleen
47	chr1:170019000-170027600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:170019000-170027600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:170019000-170035600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:170019000-170037000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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