Variant report

Variant	rs10994247
Chromosome Location	chr10:52499303-52499304
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:52499256-52500275	HepG2	liver:	n/a	n/a
2	POLR2A	chr10:52499105-52500633	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr10:52499300-52499895	GM12878	blood:	n/a	n/a
4	RAD21	chr10:52499220-52500067	H1-hESC	embryonic stem cell:	n/a	chr10:52499609-52499619
5	HEY1	chr10:52499256-52500323	K562	blood:	n/a	n/a
6	MAX	chr10:52499263-52500428	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr10:52499284-52500315	GM18951	blood:	n/a	n/a
8	CTCF	chr10:52499200-52499350	HFF	foreskin:	n/a	n/a
9	POLR2A	chr10:52499290-52500306	GM19193	blood:	n/a	n/a
10	SIN3A	chr10:52499249-52500209	H1-hESC	embryonic stem cell:	n/a	chr10:52499416-52499427 chr10:52499408-52499419 chr10:52499767-52499778
11	POLR2A	chr10:52499270-52500259	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr10:52499217-52500148	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr10:52499129-52500142	GM12892	blood:	n/a	n/a
14	YY1	chr10:52499295-52499822	K562	blood:	n/a	chr10:52499569-52499583 chr10:52499563-52499577
15	TCF12	chr10:52499287-52500123	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr10:52499212-52500375	K562	blood:	n/a	n/a
17	TCF3	chr10:52499272-52499756	GM12878	blood:	n/a	chr10:52499416-52499430
18	CTCF	chr10:52499200-52499350	GM12871	blood:	n/a	n/a
19	TEAD4	chr10:52499255-52500120	K562	blood:	n/a	n/a
20	ZNF263	chr10:52499083-52500371	HEK293-T-REx	kidney:	n/a	n/a
21	E2F6	chr10:52499186-52500221	A549	lung:	n/a	chr10:52499570-52499579 chr10:52499627-52499637
22	MAX	chr10:52499256-52500101	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr10:52499203-52499385	GM12878	blood:	n/a	n/a
24	POLR2A	chr10:52499270-52500156	PANC-1	pancreas:	n/a	n/a
25	MAX	chr10:52499218-52500233	ECC-1	luminal epithelium:	n/a	n/a
26	RUNX3	chr10:52499282-52500270	GM12878	blood:	n/a	n/a
27	CTCF	chr10:52499300-52499450	Caco-2	colon:	n/a	n/a
28	MAX	chr10:52499219-52500288	A549	lung:	n/a	n/a
29	POLR2A	chr10:52499211-52500154	HCT-116	colon:	n/a	n/a
30	POLR2A	chr10:52499267-52500123	A549	lung:	n/a	n/a
31	POLR2A	chr10:52499241-52500091	HepG2	liver:	n/a	n/a
32	TEAD4	chr10:52499271-52499951	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr10:52499220-52499370	GM12872	blood:	n/a	n/a
34	MAX	chr10:52499132-52500447	K562	blood:	n/a	n/a
35	MAX	chr10:52499235-52500274	A549	lung:	n/a	n/a
36	POLR2A	chr10:52499244-52500084	GM12878	blood:	n/a	n/a
37	POLR2A	chr10:52499284-52500266	K562	blood:	n/a	n/a
38	POLR2A	chr10:52499206-52500445	GM12878	blood:	n/a	n/a
39	MAX	chr10:52499219-52500158	MCF-7	breast:	n/a	n/a
40	CREB1	chr10:52499269-52500287	HepG2	liver:	n/a	n/a
41	TAF1	chr10:52499298-52500024	HepG2	liver:	n/a	n/a
42	POLR2A	chr10:52499278-52500108	SK-N-MC	brain:	n/a	n/a
43	GABPA	chr10:52499095-52500229	K562	blood:	n/a	chr10:52499574-52499583
44	GABPA	chr10:52499252-52500220	HL-60	blood:	n/a	chr10:52499574-52499583
45	REST	chr10:52499298-52500041	A549	lung:	n/a	n/a
46	MTA3	chr10:52499095-52500260	GM12878	blood:	n/a	n/a
47	GABPA	chr10:52499210-52500238	A549	lung:	n/a	chr10:52499574-52499583
48	MAX	chr10:52499246-52500218	HepG2	liver:	n/a	n/a
49	MAZ	chr10:52499255-52500305	K562	blood:	n/a	n/a
50	TAF1	chr10:52499285-52500095	ECC-1	luminal epithelium:	n/a	n/a

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
ASAH2B	TF binding region
ENSG00000198964	Chromatin interaction
ENSG00000226200	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10761448	0.89[EUR][1000 genomes]
rs13189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16909463	1.00[JPT][hapmap]
rs4245003	0.84[EUR][1000 genomes]
rs4497350	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]
rs6479702	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[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	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:13)

SNP	Gene	Cis/trans	Tissue	Source
rs10994247	ASAH2B	cis	Stomach	GTEx
rs10994247	ASAH2B	cis	Artery Tibial	GTEx
rs10994247	ASAH2B	cis	Muscle Skeletal	GTEx
rs10994247	ASAH2	cis	Thyroid	GTEx
rs10994247	ASAH2B	cis	Esophagus Muscularis	GTEx
rs10994247	ASAH2	cis	Artery Tibial	GTEx
rs10994247	ASAH2B	cis	Thyroid	GTEx
rs10994247	ASAH2B	cis	Heart Left Ventricle	GTEx
rs10994247	ASAH2B	cis	Esophagus Mucosa	GTEx
rs10994247	ASAH2	cis	Adipose Subcutaneous	GTEx
rs10994247	ASAH2B	cis	lung	GTEx
rs10994247	ASAH2B	cis	Artery Aorta	GTEx
rs10994247	ASAH2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52498800-52499400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr10:52498800-52500600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:52498800-52500600	Active TSS	HSMM	muscle
4	chr10:52498800-52500800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr10:52499000-52499400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:52499000-52499400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:52499000-52499400	Flanking Active TSS	Primary B cells from peripheral blood	blood
8	chr10:52499000-52499400	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr10:52499000-52499400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr10:52499000-52499400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr10:52499000-52499400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr10:52499000-52499400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr10:52499000-52499400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr10:52499000-52499400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr10:52499000-52499400	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr10:52499000-52499400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr10:52499000-52499400	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr10:52499000-52499400	Flanking Active TSS	Fetal Stomach	stomach
19	chr10:52499000-52499400	Flanking Active TSS	Right Atrium	heart
20	chr10:52499000-52499400	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr10:52499000-52499400	Flanking Active TSS	HepG2	liver
22	chr10:52499000-52499600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:52499000-52499600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr10:52499000-52499600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr10:52499000-52499600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr10:52499000-52499600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:52499000-52499600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr10:52499000-52499600	Flanking Active TSS	Fetal Muscle Trunk	muscle
29	chr10:52499000-52499600	Flanking Active TSS	Fetal Thymus	thymus
30	chr10:52499000-52499600	Flanking Active TSS	HMEC	breast
31	chr10:52499000-52499800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:52499000-52499800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr10:52499000-52500000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:52499000-52500200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:52499000-52500200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:52499000-52500200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr10:52499000-52500200	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr10:52499000-52500200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:52499000-52500200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:52499000-52500200	Active TSS	Liver	Liver
41	chr10:52499000-52500200	Active TSS	Brain Substantia Nigra	brain
42	chr10:52499000-52500200	Active TSS	Colon Smooth Muscle	Colon
43	chr10:52499000-52500200	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr10:52499000-52500200	Active TSS	Fetal Brain Female	brain
45	chr10:52499000-52500200	Active TSS	Pancreas	Pancrea
46	chr10:52499000-52500200	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr10:52499000-52500200	Active TSS	K562	blood
48	chr10:52499000-52500200	Active TSS	Osteobl	bone
49	chr10:52499000-52500400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:52499000-52500400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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