Variant report

Variant	rs41283528
Chromosome Location	chr10:52499461-52499462
allele	C/T
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	POLR2A	chr10:52499403-52500266	K562	blood:	n/a	n/a
2	MAX	chr10:52499256-52500275	HepG2	liver:	n/a	n/a
3	POLR2A	chr10:52499105-52500633	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr10:52499300-52499895	GM12878	blood:	n/a	n/a
5	RAD21	chr10:52499220-52500067	H1-hESC	embryonic stem cell:	n/a	chr10:52499609-52499619
6	TBP	chr10:52499424-52500110	HepG2	liver:	n/a	n/a
7	HEY1	chr10:52499256-52500323	K562	blood:	n/a	n/a
8	MAX	chr10:52499263-52500428	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr10:52499284-52500315	GM18951	blood:	n/a	n/a
10	POLR2A	chr10:52499290-52500306	GM19193	blood:	n/a	n/a
11	SIN3A	chr10:52499249-52500209	H1-hESC	embryonic stem cell:	n/a	chr10:52499416-52499427 chr10:52499408-52499419 chr10:52499767-52499778
12	POLR2A	chr10:52499270-52500259	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr10:52499363-52500046	A549	lung:	n/a	n/a
14	CREB1	chr10:52499434-52500215	GM12878	blood:	n/a	n/a
15	TAF1	chr10:52499364-52500104	K562	blood:	n/a	n/a
16	YY1	chr10:52499446-52500037	SK-N-SH_RA	brain:	n/a	chr10:52499569-52499583 chr10:52499563-52499577
17	POLR2A	chr10:52499217-52500148	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr10:52499129-52500142	GM12892	blood:	n/a	n/a
19	YY1	chr10:52499295-52499822	K562	blood:	n/a	chr10:52499569-52499583 chr10:52499563-52499577
20	RCOR1	chr10:52499441-52500259	K562	blood:	n/a	n/a
21	TCF12	chr10:52499287-52500123	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr10:52499212-52500375	K562	blood:	n/a	n/a
23	TCF3	chr10:52499272-52499756	GM12878	blood:	n/a	chr10:52499416-52499430
24	CHD2	chr10:52499316-52500072	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr10:52499351-52500066	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr10:52499354-52500358	SK-N-SH	brain:	n/a	n/a
27	TEAD4	chr10:52499255-52500120	K562	blood:	n/a	n/a
28	NR2F2	chr10:52499425-52500698	K562	blood:	n/a	n/a
29	ZNF263	chr10:52499083-52500371	HEK293-T-REx	kidney:	n/a	n/a
30	MYC	chr10:52499374-52499506	MCF-7	breast:	n/a	n/a
31	E2F6	chr10:52499186-52500221	A549	lung:	n/a	chr10:52499570-52499579 chr10:52499627-52499637
32	SIN3AK20	chr10:52499316-52499965	PANC-1	pancreas:	n/a	n/a
33	TCF7L2	chr10:52499456-52499836	MCF-7	breast:	n/a	n/a
34	MAX	chr10:52499256-52500101	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr10:52499270-52500156	PANC-1	pancreas:	n/a	n/a
36	NFIC	chr10:52499447-52500029	HepG2	liver:	n/a	n/a
37	MAX	chr10:52499218-52500233	ECC-1	luminal epithelium:	n/a	n/a
38	FOS	chr10:52499431-52500488	HUVEC	blood vessel:	n/a	chr10:52500261-52500269 chr10:52500259-52500270
39	RUNX3	chr10:52499282-52500270	GM12878	blood:	n/a	n/a
40	GTF2F1	chr10:52499398-52500072	H1-hESC	embryonic stem cell:	n/a	n/a
41	MYC	chr10:52499369-52500335	K562	blood:	n/a	n/a
42	POLR2A	chr10:52499354-52500323	HEK293	kidney:	n/a	n/a
43	TAF1	chr10:52499308-52500163	ECC-1	luminal epithelium:	n/a	n/a
44	ETS1	chr10:52499393-52499816	K562	blood:	n/a	n/a
45	FOXA2	chr10:52499317-52499766	A549	lung:	n/a	n/a
46	MAX	chr10:52499219-52500288	A549	lung:	n/a	n/a
47	POLR2A	chr10:52499211-52500154	HCT-116	colon:	n/a	n/a
48	TAF7	chr10:52499421-52499922	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr10:52499267-52500123	A549	lung:	n/a	n/a
50	POLR2A	chr10:52499324-52500026	GM12892	blood:	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: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10994507	0.91[ASN][1000 genomes]
rs16909463	0.91[ASN][1000 genomes]
rs41274048	0.91[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41283528	ASAH2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 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	chr10:52499000-52499600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:52499000-52499600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr10:52499000-52499600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr10:52499000-52499600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr10:52499000-52499600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:52499000-52499600	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr10:52499000-52499600	Flanking Active TSS	Fetal Muscle Trunk	muscle
11	chr10:52499000-52499600	Flanking Active TSS	Fetal Thymus	thymus
12	chr10:52499000-52499600	Flanking Active TSS	HMEC	breast
13	chr10:52499000-52499800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:52499000-52499800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr10:52499000-52500000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:52499000-52500200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:52499000-52500200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:52499000-52500200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:52499000-52500200	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr10:52499000-52500200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr10:52499000-52500200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:52499000-52500200	Active TSS	Liver	Liver
23	chr10:52499000-52500200	Active TSS	Brain Substantia Nigra	brain
24	chr10:52499000-52500200	Active TSS	Colon Smooth Muscle	Colon
25	chr10:52499000-52500200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr10:52499000-52500200	Active TSS	Fetal Brain Female	brain
27	chr10:52499000-52500200	Active TSS	Pancreas	Pancrea
28	chr10:52499000-52500200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr10:52499000-52500200	Active TSS	K562	blood
30	chr10:52499000-52500200	Active TSS	Osteobl	bone
31	chr10:52499000-52500400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:52499000-52500400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr10:52499000-52500400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:52499000-52500400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr10:52499000-52500400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr10:52499000-52500400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:52499000-52500400	Active TSS	Brain Cingulate Gyrus	brain
38	chr10:52499000-52500400	Active TSS	Brain Germinal Matrix	brain
39	chr10:52499000-52500400	Active TSS	Colonic Mucosa	Colon
40	chr10:52499000-52500400	Active TSS	Fetal Intestine Large	intestine
41	chr10:52499000-52500400	Active TSS	Ovary	ovary
42	chr10:52499000-52500400	Active TSS	Thymus	Thymus
43	chr10:52499000-52500400	Active TSS	HSMMtube	muscle
44	chr10:52499000-52500600	Active TSS	H9 Cell Line	embryonic stem cell
45	chr10:52499000-52500600	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr10:52499000-52500600	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr10:52499000-52500600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr10:52499000-52500600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:52499000-52500600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr10:52499000-52500600	Active TSS	Primary B cells from cord blood	blood

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