Variant report

Variant	rs35448554
Chromosome Location	chr2:38901521-38901522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:38885587..38887853-chr2:38899789..38902113,2	K562	blood:
2	chr2:38825670..38832919-chr2:38891527..38903424,21	K562	blood:

Variant related genes	Relation type
ENSG00000235586	Chromatin interaction
ENSG00000143889	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12469458	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12469534	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12712612	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13004674	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13004806	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13004842	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13005073	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13006376	0.97[EUR][1000 genomes]
rs13010022	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13011383	0.87[ASN][1000 genomes]
rs13012704	0.95[EUR][1000 genomes]
rs13016907	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13032255	0.87[ASN][1000 genomes]
rs13383762	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13425086	0.82[ASN][1000 genomes]
rs17576472	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17576507	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28716236	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34391548	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34533539	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs34558770	0.88[EUR][1000 genomes]
rs34756536	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34875979	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34909144	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35585199	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4670885	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58757994	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6707543	0.87[ASN][1000 genomes]
rs6736380	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6741892	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS 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	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873882	chr2:38858669-38921498	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv873883	chr2:38881106-38932777	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38893800-38903000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:38894000-38903000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:38894000-38903000	Weak transcription	Lung	lung
4	chr2:38894000-38904200	Weak transcription	Esophagus	oesophagus
5	chr2:38894000-38904400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:38894000-38917600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:38894200-38903200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:38894200-38903400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:38894200-38904000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:38894200-38904000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:38894200-38904000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:38894200-38904600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:38894200-38906800	Weak transcription	Brain Angular Gyrus	brain
14	chr2:38894200-38919000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:38894400-38903000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:38894400-38903000	Weak transcription	Fetal Kidney	kidney
17	chr2:38894400-38903000	Weak transcription	Fetal Lung	lung
18	chr2:38894400-38903000	Weak transcription	Left Ventricle	heart
19	chr2:38894400-38903000	Weak transcription	Thymus	Thymus
20	chr2:38894400-38903000	Weak transcription	NHLF	lung
21	chr2:38894400-38903200	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:38894400-38903800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:38894400-38903800	Weak transcription	Right Ventricle	heart
24	chr2:38894400-38904000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:38894400-38904000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:38894400-38904000	Weak transcription	Placenta	Placenta
27	chr2:38894400-38908600	Weak transcription	Brain Anterior Caudate	brain
28	chr2:38894400-38910400	Weak transcription	Psoas Muscle	Psoas
29	chr2:38894400-38917600	Weak transcription	NHDF-Ad	bronchial
30	chr2:38894400-38960600	Weak transcription	Brain Substantia Nigra	brain
31	chr2:38894600-38902800	Weak transcription	Fetal Stomach	stomach
32	chr2:38894600-38903000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:38894600-38903000	Weak transcription	Adipose Nuclei	Adipose
34	chr2:38894600-38903000	Weak transcription	Fetal Thymus	thymus
35	chr2:38894600-38903000	Weak transcription	Ovary	ovary
36	chr2:38894600-38903000	Weak transcription	Spleen	Spleen
37	chr2:38894600-38903200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:38894600-38903200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:38894600-38903200	Weak transcription	Primary B cells from cord blood	blood
40	chr2:38894600-38908000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:38894600-38919600	Weak transcription	Fetal Heart	heart
42	chr2:38894800-38903000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr2:38894800-38903000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr2:38894800-38903000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:38894800-38903000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:38894800-38949400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:38895000-38903000	Weak transcription	Colonic Mucosa	Colon
48	chr2:38895000-38917600	Weak transcription	HSMM	muscle
49	chr2:38895200-38903000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:38895200-38903000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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