Variant report

Variant	rs4497350
Chromosome Location	chr10:52499880-52499881
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	chr10:52382538..52386733-chr10:52497918..52501112,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198964	Chromatin interaction
ENSG00000226200	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10761448	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10994247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16909463	1.00[JPT][hapmap]
rs2820762	1.00[MEX][hapmap]
rs4245003	0.84[EUR][1000 genomes]
rs4245008	0.90[MEX][hapmap]
rs4256922	0.90[MEX][hapmap]
rs6479702	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7073683	0.82[MEX][hapmap];0.88[TSI][hapmap]

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	nsv895393	chr10:52413720-52530819	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv948007	chr10:52414948-52500270	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1035197	chr10:52446582-52622349	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1825222	chr10:52477544-52527856	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs4497350	ASAH2B	cis	Esophagus Mucosa	GTEx
rs4497350	ASAH2	cis	Adipose Subcutaneous	GTEx
rs4497350	ASAH2B	cis	Heart Left Ventricle	GTEx
rs4497350	ASAH2B	cis	Artery Aorta	GTEx
rs4497350	ASAH2B	cis	Esophagus Muscularis	GTEx
rs4497350	ASAH2B	cis	Stomach	GTEx
rs4497350	ASAH2	cis	Skin Sun Exposed Lower leg	GTEx
rs4497350	ASAH2B	cis	lung	GTEx
rs4497350	ASAH2B	cis	Thyroid	GTEx
rs4497350	ASAH2B	cis	Artery Tibial	GTEx
rs4497350	ASAH2	cis	Thyroid	GTEx
rs4497350	ASAH2	cis	Artery Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52498800-52500600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:52498800-52500600	Active TSS	HSMM	muscle
3	chr10:52498800-52500800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr10:52499000-52500000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:52499000-52500200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:52499000-52500200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:52499000-52500200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:52499000-52500200	Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr10:52499000-52500200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr10:52499000-52500200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:52499000-52500200	Active TSS	Liver	Liver
12	chr10:52499000-52500200	Active TSS	Brain Substantia Nigra	brain
13	chr10:52499000-52500200	Active TSS	Colon Smooth Muscle	Colon
14	chr10:52499000-52500200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr10:52499000-52500200	Active TSS	Fetal Brain Female	brain
16	chr10:52499000-52500200	Active TSS	Pancreas	Pancrea
17	chr10:52499000-52500200	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr10:52499000-52500200	Active TSS	K562	blood
19	chr10:52499000-52500200	Active TSS	Osteobl	bone
20	chr10:52499000-52500400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:52499000-52500400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr10:52499000-52500400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:52499000-52500400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr10:52499000-52500400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:52499000-52500400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:52499000-52500400	Active TSS	Brain Cingulate Gyrus	brain
27	chr10:52499000-52500400	Active TSS	Brain Germinal Matrix	brain
28	chr10:52499000-52500400	Active TSS	Colonic Mucosa	Colon
29	chr10:52499000-52500400	Active TSS	Fetal Intestine Large	intestine
30	chr10:52499000-52500400	Active TSS	Ovary	ovary
31	chr10:52499000-52500400	Active TSS	Thymus	Thymus
32	chr10:52499000-52500400	Active TSS	HSMMtube	muscle
33	chr10:52499000-52500600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr10:52499000-52500600	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr10:52499000-52500600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr10:52499000-52500600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr10:52499000-52500600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:52499000-52500600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr10:52499000-52500600	Active TSS	Primary B cells from cord blood	blood
40	chr10:52499000-52500600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr10:52499000-52500600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr10:52499000-52500600	Active TSS	Brain Angular Gyrus	brain
43	chr10:52499000-52500600	Active TSS	Brain Anterior Caudate	brain
44	chr10:52499000-52500600	Active TSS	Brain Hippocampus Middle	brain
45	chr10:52499000-52500600	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr10:52499000-52500600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr10:52499000-52500600	Active TSS	Fetal Kidney	kidney
48	chr10:52499000-52500600	Active TSS	Psoas Muscle	Psoas
49	chr10:52499000-52500600	Active TSS	Rectal Smooth Muscle	rectum
50	chr10:52499000-52500600	Active TSS	Right Ventricle	heart

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