Variant report

Variant	rs2489372
Chromosome Location	chr10:27529565-27529566
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	ETS1	chr10:27529022-27529799	A549	lung:	n/a	chr10:27529540-27529551 chr10:27529782-27529793 chr10:27529785-27529796
2	HEY1	chr10:27529229-27529972	HepG2	liver:	n/a	chr10:27529781-27529796 chr10:27529784-27529799
3	TAF1	chr10:27529111-27529911	H1-neurons	neurons:	n/a	n/a
4	CEBPD	chr10:27529155-27529887	HepG2	liver:	n/a	n/a
5	POLR2A	chr10:27529059-27532978	MCF-7	breast:	n/a	n/a
6	TCF12	chr10:27528857-27529955	A549	lung:	n/a	n/a
7	POLR2A	chr10:27529168-27530609	GM12878	blood:	n/a	n/a
8	MAX	chr10:27529065-27530269	SK-N-SH	brain:	n/a	n/a
9	MYBL2	chr10:27529101-27529734	HepG2	liver:	n/a	n/a
10	TAF1	chr10:27529463-27529678	GM12891	blood:	n/a	n/a
11	POLR2A	chr10:27529125-27530625	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr10:27529127-27530156	GM12878	blood:	n/a	n/a
13	FOXA1	chr10:27529027-27529600	HepG2	liver:	n/a	chr10:27529160-27529172
14	GABPA	chr10:27529349-27529583	A549	lung:	n/a	n/a
15	POLR2A	chr10:27529189-27530136	A549	lung:	n/a	n/a
16	MTA3	chr10:27529032-27532977	GM12878	blood:	n/a	n/a
17	YY1	chr10:27529165-27529862	HCT-116	colon:	n/a	chr10:27529785-27529796 chr10:27529782-27529793 chr10:27529830-27529839 chr10:27529780-27529794 chr10:27529782-27529791 chr10:27529785-27529794
18	NFIC	chr10:27529014-27529724	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr10:27529131-27529851	K562	blood:	n/a	n/a
20	POLR2A	chr10:27529184-27530043	HepG2	liver:	n/a	n/a
21	TAF1	chr10:27529079-27530446	ECC-1	luminal epithelium:	n/a	n/a
22	MXI1	chr10:27528976-27530211	IMR90	lung:	n/a	n/a
23	MYC	chr10:27529211-27529616	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr10:27529063-27529813	GM12891	blood:	n/a	n/a
25	TBP	chr10:27529117-27529708	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr10:27529167-27529994	GM12892	blood:	n/a	n/a
27	NFYB	chr10:27529080-27529590	K562	blood:	n/a	n/a
28	POLR2A	chr10:27529061-27532723	SK-N-MC	brain:	n/a	n/a
29	ZBTB7A	chr10:27529549-27529883	HepG2	liver:	n/a	n/a
30	KAP1	chr10:27529306-27529674	U2OS	brain:	n/a	n/a
31	TAF1	chr10:27529172-27530098	HepG2	liver:	n/a	n/a
32	UBTF	chr10:27529113-27531425	K562	blood:	n/a	n/a
33	POLR2A	chr10:27529192-27530352	GM12878	blood:	n/a	n/a
34	CHD2	chr10:27529128-27529775	Hela-S3	cervix:	n/a	chr10:27529540-27529550
35	POLR2A	chr10:27529120-27531534	MCF-7	breast:	n/a	n/a
36	STAT5A	chr10:27529133-27529796	GM12878	blood:	n/a	chr10:27529745-27529757
37	POLR2A	chr10:27529108-27531463	HL-60	blood:	n/a	n/a
38	POLR2A	chr10:27529167-27532597	Raji	blood:	n/a	n/a
39	PBX3	chr10:27529108-27529939	SK-N-SH	brain:	n/a	chr10:27529725-27529734
40	YY1	chr10:27529109-27529688	A549	lung:	n/a	n/a
41	MXI1	chr10:27528804-27533681	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr10:27529307-27530028	K562	blood:	n/a	n/a
43	CHD2	chr10:27529187-27529650	HepG2	liver:	n/a	chr10:27529540-27529550
44	SPI1	chr10:27529276-27529688	GM12891	blood:	n/a	n/a
45	GTF2F1	chr10:27529191-27529585	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr10:27529344-27529889	IMR90	lung:	n/a	n/a
47	MAX	chr10:27528932-27531588	A549	lung:	n/a	chr10:27530683-27530693
48	POLR2A	chr10:27529199-27530086	A549	lung:	n/a	n/a
49	TCF12	chr10:27529160-27529718	GM12878	blood:	n/a	n/a
50	E2F4	chr10:27529179-27530206	K562	blood:	n/a	chr10:27529783-27529793 chr10:27529828-27529838 chr10:27529361-27529372 chr10:27529786-27529796

No.	Distal block	Cell Line	Cell type
1	chr10:27519329..27521488-chr10:27529432..27532187,2	MCF-7	breast:
2	chr10:27528986..27529739-chr21:35014796..35015672,2	Hela-S3	cervix:
3	chr10:27441850..27444956-chr10:27527496..27532549,10	MCF-7	breast:
4	chr10:27529521..27534854-chr10:27538591..27544292,11	K562	blood:
5	chr10:27518617..27521324-chr10:27527252..27530128,4	K562	blood:
6	chr10:27442535..27445982-chr10:27528407..27534290,13	K562	blood:
7	chr10:27523074..27525459-chr10:27528062..27530998,5	K562	blood:
8	chr10:27387680..27390568-chr10:27529145..27530975,2	K562	blood:
9	chr10:27528592..27532608-chr10:27549768..27554222,6	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
ENSG00000262412	TF binding region
ENSG00000263577	TF binding region
ACBD5	TF binding region
ENSG00000230445	Chromatin interaction
ENSG00000136758	Chromatin interaction
ENSG00000205726	Chromatin interaction
ENSG00000251839	Chromatin interaction
ENSG00000263577	Chromatin interaction
ENSG00000107890	Chromatin interaction
ENSG00000238021	Chromatin interaction
ENSG00000120539	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11015603	1.00[ASN][1000 genomes]
rs12356360	1.00[ASN][1000 genomes]
rs12360088	1.00[ASN][1000 genomes]
rs16927620	1.00[ASN][1000 genomes]
rs16927627	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927642	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927653	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927663	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1753423	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775349	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1970541	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2479908	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2479909	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2479911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483489	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2483490	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483491	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483492	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987452	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2995499	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282204	1.00[ASN][1000 genomes]
rs41282208	1.00[ASN][1000 genomes]
rs41282216	1.00[ASN][1000 genomes]
rs41282218	1.00[ASN][1000 genomes]
rs41299222	1.00[ASN][1000 genomes]
rs4522064	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs481629	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57132590	1.00[ASN][1000 genomes]
rs59162492	1.00[ASN][1000 genomes]
rs62622019	1.00[ASN][1000 genomes]
rs6482608	1.00[ASN][1000 genomes]
rs670157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73596349	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73596350	1.00[ASN][1000 genomes]
rs73596351	1.00[ASN][1000 genomes]
rs73596353	1.00[ASN][1000 genomes]
rs73596354	1.00[ASN][1000 genomes]
rs73598015	1.00[ASN][1000 genomes]
rs73598019	1.00[ASN][1000 genomes]
rs73598020	1.00[ASN][1000 genomes]
rs73598021	1.00[ASN][1000 genomes]
rs73598022	1.00[ASN][1000 genomes]
rs73598023	1.00[ASN][1000 genomes]
rs73598024	1.00[ASN][1000 genomes]
rs73598027	1.00[ASN][1000 genomes]
rs73598031	1.00[ASN][1000 genomes]
rs73598032	1.00[ASN][1000 genomes]
rs73598033	1.00[ASN][1000 genomes]
rs73598034	1.00[ASN][1000 genomes]
rs73598036	1.00[ASN][1000 genomes]
rs73598041	1.00[ASN][1000 genomes]
rs73598044	1.00[ASN][1000 genomes]
rs788214	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2489372	ANKRD26	cis	Muscle Skeletal	GTEx

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	chr10:27528000-27529800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:27528000-27530000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:27528000-27530000	Active TSS	Colonic Mucosa	Colon
8	chr10:27528000-27530000	Active TSS	Rectal Smooth Muscle	rectum
9	chr10:27528200-27529800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:27528200-27530000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:27528200-27530000	Active TSS	Muscle Satellite Cultured Cells	--
12	chr10:27528200-27530000	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr10:27528200-27530000	Active TSS	Fetal Intestine Large	intestine
14	chr10:27528200-27530000	Active TSS	Fetal Intestine Small	intestine
15	chr10:27528200-27530000	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr10:27528200-27530000	Active TSS	NH-A	brain
17	chr10:27528200-27530000	Active TSS	NHLF	lung
18	chr10:27528200-27530000	Active TSS	Osteobl	bone
19	chr10:27528200-27530200	Active TSS	Duodenum Mucosa	Duodenum
20	chr10:27528200-27530200	Active TSS	Right Ventricle	heart
21	chr10:27528200-27531800	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr10:27528200-27532400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr10:27528200-27532400	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr10:27528200-27532400	Active TSS	Fetal Kidney	kidney
25	chr10:27528200-27532600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:27528200-27532800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr10:27528400-27530000	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr10:27528400-27530000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:27528400-27530000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr10:27528400-27530000	Active TSS	Liver	Liver
31	chr10:27528400-27530000	Active TSS	Fetal Brain Female	brain
32	chr10:27528400-27530000	Active TSS	Stomach Smooth Muscle	stomach
33	chr10:27528400-27530000	Active TSS	Hela-S3	cervix
34	chr10:27528400-27530200	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr10:27528400-27530200	Active TSS	NHDF-Ad	bronchial
36	chr10:27528400-27532000	Active TSS	H1 Cell Line	embryonic stem cell
37	chr10:27528400-27532000	Active TSS	K562	blood
38	chr10:27528400-27532200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:27528400-27532200	Active TSS	Brain Angular Gyrus	brain
40	chr10:27528400-27532200	Active TSS	Brain Germinal Matrix	brain
41	chr10:27528400-27532200	Active TSS	HepG2	liver
42	chr10:27528400-27532400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:27528400-27532600	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr10:27528400-27533000	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr10:27528400-27533000	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr10:27528600-27529600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr10:27528600-27529800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:27528600-27530000	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr10:27528600-27530000	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr10:27528600-27530000	Active TSS	HSMM	muscle

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