Variant report

Variant	rs58549916
Chromosome Location	chr10:116625605-116625606
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116620510..116622671-chr10:116624179..116626213,2	K562	blood:

Variant related genes	Relation type
ENSG00000151553	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10885615	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10885616	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10885621	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10885623	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11196925	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11196926	0.87[ASN][1000 genomes]
rs11196931	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11196946	0.87[ASN][1000 genomes]
rs11196954	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196955	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196956	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196957	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12411629	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12414613	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17092480	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17092491	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2016966	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2286632	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4277024	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72833128	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72833130	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv831996	chr10:116601552-116772968	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr10:116589600-116626600	Weak transcription	Stomach Mucosa	stomach
2	chr10:116589600-116640600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:116590800-116626400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr10:116591000-116626600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr10:116604800-116627200	Weak transcription	Small Intestine	intestine
6	chr10:116609600-116634800	Weak transcription	Spleen	Spleen
7	chr10:116609600-116639400	Weak transcription	Pancreas	Pancrea
8	chr10:116610200-116634600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr10:116610400-116628000	Weak transcription	Esophagus	oesophagus
10	chr10:116610600-116628000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:116611600-116641000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr10:116612400-116625800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr10:116612800-116626600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:116614000-116626200	Strong transcription	Primary hematopoietic stem cells	blood
15	chr10:116614400-116626200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr10:116614800-116628400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:116616800-116626400	Weak transcription	Brain Substantia Nigra	brain
18	chr10:116617000-116627400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:116617000-116630200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr10:116617400-116640600	Weak transcription	Fetal Intestine Small	intestine
21	chr10:116617800-116626000	Strong transcription	HSMM	muscle
22	chr10:116617800-116626400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:116618000-116626400	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr10:116618200-116626000	Strong transcription	Osteobl	bone
25	chr10:116619400-116626200	Weak transcription	Psoas Muscle	Psoas
26	chr10:116619400-116627200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:116619400-116627400	Weak transcription	Lung	lung
28	chr10:116619400-116634400	Weak transcription	Fetal Brain Male	brain
29	chr10:116619400-116636000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:116619400-116636400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr10:116619400-116641600	Weak transcription	Aorta	Aorta
32	chr10:116619600-116627000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr10:116619800-116629400	Weak transcription	Colon Smooth Muscle	Colon
34	chr10:116619800-116634800	Weak transcription	Fetal Brain Female	brain
35	chr10:116620600-116635000	Weak transcription	Fetal Stomach	stomach
36	chr10:116621200-116629800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr10:116621400-116626400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr10:116621400-116634800	Weak transcription	HepG2	liver
39	chr10:116621400-116636000	Weak transcription	Right Ventricle	heart
40	chr10:116621600-116628000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr10:116621600-116629400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr10:116621800-116639600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr10:116621800-116639600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr10:116622000-116639200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr10:116622200-116627200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:116622200-116639000	Weak transcription	A549	lung
47	chr10:116622600-116626600	Weak transcription	Thymus	Thymus
48	chr10:116622600-116628000	Weak transcription	HMEC	breast
49	chr10:116622600-116628000	Weak transcription	NHLF	lung
50	chr10:116622600-116631000	Weak transcription	Fetal Muscle Leg	muscle

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