Variant report

Variant	rs1328602
Chromosome Location	chr10:27529916-27529917
allele	A/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	HEY1	chr10:27529229-27529972	HepG2	liver:	n/a	chr10:27529781-27529796 chr10:27529784-27529799
2	POLR2A	chr10:27529771-27531517	GM12891	blood:	n/a	n/a
3	POLR2A	chr10:27529059-27532978	MCF-7	breast:	n/a	n/a
4	TCF12	chr10:27528857-27529955	A549	lung:	n/a	n/a
5	POLR2A	chr10:27529168-27530609	GM12878	blood:	n/a	n/a
6	MAX	chr10:27529065-27530269	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr10:27529125-27530625	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr10:27529127-27530156	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr10:27529761-27530094	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr10:27529189-27530136	A549	lung:	n/a	n/a
11	MTA3	chr10:27529032-27532977	GM12878	blood:	n/a	n/a
12	CTCF	chr10:27529604-27529963	GM12878	blood:	n/a	n/a
13	POLR2A	chr10:27529184-27530043	HepG2	liver:	n/a	n/a
14	TAF1	chr10:27529079-27530446	ECC-1	luminal epithelium:	n/a	n/a
15	MXI1	chr10:27528976-27530211	IMR90	lung:	n/a	n/a
16	POLR2A	chr10:27529167-27529994	GM12892	blood:	n/a	n/a
17	POLR2A	chr10:27529061-27532723	SK-N-MC	brain:	n/a	n/a
18	TAF1	chr10:27529172-27530098	HepG2	liver:	n/a	n/a
19	UBTF	chr10:27529113-27531425	K562	blood:	n/a	n/a
20	POLR2A	chr10:27529192-27530352	GM12878	blood:	n/a	n/a
21	POLR2A	chr10:27529120-27531534	MCF-7	breast:	n/a	n/a
22	POLR2A	chr10:27529108-27531463	HL-60	blood:	n/a	n/a
23	POLR2A	chr10:27529167-27532597	Raji	blood:	n/a	n/a
24	PBX3	chr10:27529108-27529939	SK-N-SH	brain:	n/a	chr10:27529725-27529734
25	MXI1	chr10:27528804-27533681	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr10:27529307-27530028	K562	blood:	n/a	n/a
27	MAX	chr10:27528932-27531588	A549	lung:	n/a	chr10:27530683-27530693
28	POLR2A	chr10:27529199-27530086	A549	lung:	n/a	n/a
29	E2F4	chr10:27529179-27530206	K562	blood:	n/a	chr10:27529783-27529793 chr10:27529828-27529838 chr10:27529361-27529372 chr10:27529786-27529796
30	HEY1	chr10:27529201-27530138	K562	blood:	n/a	chr10:27529781-27529796 chr10:27529784-27529799
31	POLR2A	chr10:27529206-27532672	GM12878	blood:	n/a	n/a
32	POLR2A	chr10:27529104-27532588	U87	brain:	n/a	n/a
33	MXI1	chr10:27529078-27532630	GM12878	blood:	n/a	n/a
34	SIN3AK20	chr10:27529120-27529947	PANC-1	pancreas:	n/a	n/a
35	STAT5A	chr10:27529905-27530244	GM12878	blood:	n/a	n/a
36	MAX	chr10:27529159-27531425	K562	blood:	n/a	chr10:27530683-27530693
37	ZNF263	chr10:27529118-27530507	HEK293-T-REx	kidney:	n/a	chr10:27529539-27529548
38	TBP	chr10:27529193-27532405	K562	blood:	n/a	chr10:27532336-27532347
39	SIN3A	chr10:27529056-27532474	H1-hESC	embryonic stem cell:	n/a	chr10:27531901-27531910 chr10:27530098-27530107
40	MYC	chr10:27529128-27531363	NB4	blood:	n/a	chr10:27530683-27530693
41	POLR2A	chr10:27529153-27531513	GM15510	blood:	n/a	n/a
42	RUNX3	chr10:27529102-27531470	GM12878	blood:	n/a	n/a
43	STAT5A	chr10:27529818-27531494	GM12878	blood:	n/a	chr10:27531057-27531065
44	POLR2A	chr10:27529181-27532999	GM12878	blood:	n/a	n/a
45	ZBTB7A	chr10:27529403-27529980	K562	blood:	n/a	n/a
46	POLR2A	chr10:27529211-27530384	HEK293	kidney:	n/a	n/a
47	TCF3	chr10:27529168-27530176	GM12878	blood:	n/a	n/a
48	MAX	chr10:27529136-27530272	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr10:27529100-27533158	GM12891	blood:	n/a	n/a
50	POLR2A	chr10:27529188-27531449	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:27519329..27521488-chr10:27529432..27532187,2	MCF-7	breast:
2	chr10:27441850..27444956-chr10:27527496..27532549,10	MCF-7	breast:
3	chr10:27529521..27534854-chr10:27538591..27544292,11	K562	blood:
4	chr10:27518617..27521324-chr10:27527252..27530128,4	K562	blood:
5	chr10:27442535..27445982-chr10:27528407..27534290,13	K562	blood:
6	chr10:27523074..27525459-chr10:27528062..27530998,5	K562	blood:
7	chr10:27387680..27390568-chr10:27529145..27530975,2	K562	blood:
8	chr10:27528592..27532608-chr10:27549768..27554222,6	MCF-7	breast:
9	chr10:27422273..27425391-chr10:27529619..27533685,5	MCF-7	breast:
10	chr10:27425181..27427784-chr10:27528316..27531053,2	MCF-7	breast:
11	chr10:27529491..27532336-chr10:27550751..27553961,4	K562	blood:
12	chr10:27441114..27446089-chr10:27527560..27532728,23	MCF-7	breast:
13	chr10:27442176..27446829-chr10:27524472..27534671,19	K562	blood:

Variant related genes	Relation type
ENSG00000263577	TF binding region
ACBD5	TF binding region
ENSG00000262412	TF binding region
ENSG00000251839	Chromatin interaction
ENSG00000238021	Chromatin interaction
ENSG00000263577	Chromatin interaction
ENSG00000136758	Chromatin interaction
ENSG00000230445	Chromatin interaction
ENSG00000107890	Chromatin interaction
ENSG00000120539	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10430598	0.84[ASN][1000 genomes]
rs10430599	0.84[ASN][1000 genomes]
rs10764690	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10829212	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10829219	0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs10829220	0.81[ASN][1000 genomes]
rs11015626	0.83[ASN][1000 genomes]
rs11015627	0.83[ASN][1000 genomes]
rs1144510	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1144511	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1148167	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12762457	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1780091	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1981296	0.87[MEX][hapmap];0.81[MKK][hapmap]
rs2040038	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2243922	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2770202	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2780667	1.00[ASW][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.82[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2780672	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2780674	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2780675	0.96[ASN][1000 genomes]
rs2780681	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2800392	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4747588	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4749240	0.90[EUR][1000 genomes]
rs4749241	0.82[ASN][1000 genomes]
rs4749242	0.82[ASN][1000 genomes]
rs61849039	0.89[EUR][1000 genomes]
rs7068375	0.87[MEX][hapmap];0.81[MKK][hapmap]
rs7086553	0.87[MEX][hapmap];0.81[MKK][hapmap]
rs7088127	0.83[ASN][1000 genomes]
rs7091128	0.87[MEX][hapmap]
rs7095530	0.81[ASN][1000 genomes]
rs7900024	0.83[MEX][hapmap];0.81[MKK][hapmap]
rs7907444	0.83[ASN][1000 genomes]
rs7919523	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[EUR][1000 genomes]
rs882474	0.87[MEX][hapmap];0.81[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs1328602	ANKRD26	cis	parietal	SCAN
rs1328602	MASTL	cis	Skin Sun Exposed Lower leg	GTEx
rs1328602	MASTL	cis	Artery Tibial	GTEx
rs1328602	MASTL	cis	Whole Blood	GTEx
rs1328602	MASTL	cis	Muscle Skeletal	GTEx
rs1328602	ACBD5	cis	cerebellum	SCAN
rs1328602	MASTL	cis	lung	GTEx
rs1328602	MASTL	cis	cerebellum	SCAN
rs1328602	MASTL	cis	Nerve Tibial	GTEx
rs1328602	MASTL	cis	Thyroid	GTEx
rs1328602	MASTL	cis	Adipose Subcutaneous	GTEx
rs1328602	RAB18	cis	parietal	SCAN
rs1328602	MASTL	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27526400-27530000	Active TSS	A549	lung
2	chr10:27527800-27530000	Active TSS	GM12878-XiMat	blood
3	chr10:27527800-27530200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:27527800-27532200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr10:27528000-27530000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:27528000-27530000	Active TSS	Colonic Mucosa	Colon
7	chr10:27528000-27530000	Active TSS	Rectal Smooth Muscle	rectum
8	chr10:27528200-27530000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:27528200-27530000	Active TSS	Muscle Satellite Cultured Cells	--
10	chr10:27528200-27530000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr10:27528200-27530000	Active TSS	Fetal Intestine Large	intestine
12	chr10:27528200-27530000	Active TSS	Fetal Intestine Small	intestine
13	chr10:27528200-27530000	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr10:27528200-27530000	Active TSS	NH-A	brain
15	chr10:27528200-27530000	Active TSS	NHLF	lung
16	chr10:27528200-27530000	Active TSS	Osteobl	bone
17	chr10:27528200-27530200	Active TSS	Duodenum Mucosa	Duodenum
18	chr10:27528200-27530200	Active TSS	Right Ventricle	heart
19	chr10:27528200-27531800	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr10:27528200-27532400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:27528200-27532400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr10:27528200-27532400	Active TSS	Fetal Kidney	kidney
23	chr10:27528200-27532600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:27528200-27532800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr10:27528400-27530000	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr10:27528400-27530000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:27528400-27530000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr10:27528400-27530000	Active TSS	Liver	Liver
29	chr10:27528400-27530000	Active TSS	Fetal Brain Female	brain
30	chr10:27528400-27530000	Active TSS	Stomach Smooth Muscle	stomach
31	chr10:27528400-27530000	Active TSS	Hela-S3	cervix
32	chr10:27528400-27530200	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr10:27528400-27530200	Active TSS	NHDF-Ad	bronchial
34	chr10:27528400-27532000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr10:27528400-27532000	Active TSS	K562	blood
36	chr10:27528400-27532200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:27528400-27532200	Active TSS	Brain Angular Gyrus	brain
38	chr10:27528400-27532200	Active TSS	Brain Germinal Matrix	brain
39	chr10:27528400-27532200	Active TSS	HepG2	liver
40	chr10:27528400-27532400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:27528400-27532600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr10:27528400-27533000	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr10:27528400-27533000	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr10:27528600-27530000	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr10:27528600-27530000	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr10:27528600-27530000	Active TSS	HSMM	muscle
47	chr10:27528600-27530200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr10:27528600-27530200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr10:27528600-27530200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr10:27528600-27530200	Active TSS	HSMMtube	muscle

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