Variant report

Variant	rs35549057
Chromosome Location	chr5:127383142-127383143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11873544	0.92[ASN][1000 genomes]
rs12954558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12955548	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12956691	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12962881	0.93[EUR][1000 genomes]
rs12968320	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12970613	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34209805	0.93[EUR][1000 genomes]
rs34446906	0.92[ASN][1000 genomes]
rs34753817	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36051372	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs616014	0.83[ASN][1000 genomes]
rs71362047	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7237559	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[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	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1806594	chr5:127336033-127410767	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv1808488	chr5:127336033-127410767	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1825228	chr5:127336033-127410767	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1829119	chr5:127336033-127410767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv508378	chr5:127374904-127405030	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127332400-127388800	Weak transcription	Aorta	Aorta
2	chr5:127333600-127388800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
4	chr5:127334600-127394000	Weak transcription	Lung	lung
5	chr5:127335000-127397600	Weak transcription	NHDF-Ad	bronchial
6	chr5:127353200-127397000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:127354000-127397400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:127354400-127398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:127354600-127409800	Weak transcription	Left Ventricle	heart
10	chr5:127356200-127399200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:127356400-127414000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:127357200-127393800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:127358800-127389000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:127360400-127393800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:127366000-127389000	Weak transcription	HSMMtube	muscle
16	chr5:127367400-127385200	Weak transcription	Primary B cells from cord blood	blood
17	chr5:127369200-127385200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:127369400-127398000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:127371600-127386200	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:127371600-127389000	Weak transcription	Psoas Muscle	Psoas
21	chr5:127371600-127398000	Weak transcription	Small Intestine	intestine
22	chr5:127373000-127388800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:127373000-127389000	Weak transcription	Brain Angular Gyrus	brain
24	chr5:127374600-127384400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:127374600-127418000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:127375200-127385800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:127375200-127386400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:127375200-127389000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:127375200-127414400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:127375800-127386000	Weak transcription	A549	lung
31	chr5:127375800-127388600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr5:127375800-127391000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:127376000-127397000	Weak transcription	NHEK	skin
34	chr5:127376400-127397400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:127376400-127414400	Weak transcription	Dnd41	blood
36	chr5:127377000-127391000	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:127377200-127414200	Weak transcription	K562	blood
38	chr5:127378000-127416600	Weak transcription	Spleen	Spleen
39	chr5:127378400-127401600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr5:127378400-127414200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:127378800-127415800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:127379000-127417400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr5:127379200-127384400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr5:127379600-127386200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:127380000-127390200	Weak transcription	Right Ventricle	heart
46	chr5:127380000-127390800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr5:127380200-127387200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr5:127380200-127398000	Weak transcription	Esophagus	oesophagus
49	chr5:127380200-127414600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr5:127380200-127416200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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