Variant report

Variant	rs12266661
Chromosome Location	chr10:27445058-27445059
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	POLR2A	chr10:27442481-27445646	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr10:27444645-27445124	A549	lung:	n/a	n/a
3	POLR2A	chr10:27443752-27445177	ECC-1	luminal epithelium:	n/a	n/a
4	MXI1	chr10:27442288-27445640	SK-N-SH	brain:	n/a	n/a
5	HCFC1	chr10:27443849-27445289	Hela-S3	cervix:	n/a	n/a
6	YY1	chr10:27443899-27445186	K562	blood:	n/a	chr10:27444264-27444278
7	CEBPB	chr10:27444727-27445129	HepG2	liver:	n/a	n/a
8	KAP1	chr10:27444854-27445321	U2OS	brain:	n/a	n/a
9	POLR2A	chr10:27444495-27445144	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr10:27442676-27445300	K562	blood:	n/a	n/a
11	POLR2A	chr10:27444725-27445340	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr10:27442747-27445340	GM18505	blood:	n/a	n/a
13	POLR2A	chr10:27442590-27445235	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAF1	chr10:27442685-27445138	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr10:27442720-27445302	GM12891	blood:	n/a	n/a
16	HMGN3	chr10:27444022-27445140	K562	blood:	n/a	n/a
17	POLR2A	chr10:27444723-27445239	HCT-116	colon:	n/a	n/a
18	MAX	chr10:27442654-27445195	K562	blood:	n/a	chr10:27444264-27444273
19	POLR2A	chr10:27444658-27445285	K562	blood:	n/a	n/a
20	CEBPB	chr10:27444774-27445146	A549	lung:	n/a	n/a
21	MAX	chr10:27444889-27445500	Hela-S3	cervix:	n/a	n/a
22	CHD1	chr10:27441735-27445646	IMR90	lung:	n/a	n/a
23	YY1	chr10:27443784-27445131	GM12878	blood:	n/a	chr10:27444264-27444278
24	MYC	chr10:27442648-27445323	K562	blood:	n/a	chr10:27444264-27444273
25	POLR2A	chr10:27442755-27445310	GM12878	blood:	n/a	n/a
26	JUND	chr10:27442734-27445243	K562	blood:	n/a	n/a
27	CEBPB	chr10:27444540-27445197	MCF-7	breast:	n/a	n/a
28	YY1	chr10:27444793-27445171	HepG2	liver:	n/a	n/a
29	POLR2A	chr10:27443033-27445132	NB4	blood:	n/a	n/a
30	POLR2A	chr10:27442701-27445350	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr10:27444772-27445184	HepG2	liver:	n/a	n/a
32	POLR2A	chr10:27442752-27445253	GM18951	blood:	n/a	n/a
33	SIN3AK20	chr10:27442752-27445180	HCT-116	colon:	n/a	n/a
34	CEBPB	chr10:27444631-27445186	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr10:27442640-27445329	GM12892	blood:	n/a	n/a
36	POLR2A	chr10:27443773-27445206	MCF-7	breast:	n/a	n/a
37	POLR2A	chr10:27444948-27445112	A549	lung:	n/a	n/a
38	PAX5	chr10:27444888-27445243	GM12878	blood:	n/a	n/a
39	POLR2A	chr10:27443027-27445251	HEK293	kidney:	n/a	n/a
40	CEBPB	chr10:27444688-27445210	IMR90	lung:	n/a	n/a
41	POLR2A	chr10:27444882-27445209	MCF-7	breast:	n/a	n/a
42	POLR2A	chr10:27442860-27445264	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr10:27442725-27445262	GM12892	blood:	n/a	n/a
44	ZNF384	chr10:27443927-27445132	K562	blood:	n/a	n/a
45	JUN	chr10:27442431-27445590	K562	blood:	n/a	chr10:27442679-27442688 chr10:27444114-27444127
46	POLR2A	chr10:27444947-27445172	GM12878	blood:	n/a	n/a
47	EGR1	chr10:27442790-27445099	HCT-116	colon:	n/a	chr10:27444263-27444274 chr10:27444262-27444275 chr10:27444262-27444276 chr10:27444181-27444195 chr10:27444262-27444275 chr10:27444265-27444274 chr10:27444264-27444274 chr10:27444262-27444275 chr10:27444264-27444274 chr10:27444263-27444274 chr10:27444258-27444280 chr10:27444231-27444245
48	POLR2A	chr10:27442873-27445408	SK-N-MC	brain:	n/a	n/a
49	E2F4	chr10:27442520-27445387	MCF10A-Er-Src	breast:	n/a	chr10:27443066-27443078 chr10:27444245-27444254 chr10:27444294-27444305 chr10:27444611-27444621
50	POLR2A	chr10:27442465-27445493	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:27442535..27445982-chr10:27528407..27534290,13	K562	blood:
2	chr10:27425252..27427965-chr10:27444886..27446851,2	MCF-7	breast:
3	chr10:27442176..27446829-chr10:27524472..27534671,19	K562	blood:
4	chr10:27441114..27446089-chr10:27527560..27532728,23	MCF-7	breast:

Variant related genes	Relation type
YME1L1	TF binding region
ENSG00000262412	Chromatin interaction
ENSG00000263577	Chromatin interaction
ENSG00000136758	Chromatin interaction
ENSG00000107897	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10160190	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10466099	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10829184	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11015593	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11015594	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11015621	0.83[AMR][1000 genomes]
rs12241100	0.83[AMR][1000 genomes]
rs12241557	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12242277	0.83[AMR][1000 genomes]
rs12242335	0.83[AMR][1000 genomes]
rs12243561	0.83[AMR][1000 genomes]
rs12245061	0.83[AMR][1000 genomes]
rs12246444	0.83[AMR][1000 genomes]
rs12247766	0.83[AMR][1000 genomes]
rs12247836	0.83[AMR][1000 genomes]
rs12248381	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12248625	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12249238	0.83[AMR][1000 genomes]
rs12250273	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12250812	0.83[AMR][1000 genomes]
rs12254121	0.92[AMR][1000 genomes]
rs12254186	0.92[AMR][1000 genomes]
rs12256490	0.83[AMR][1000 genomes]
rs12258518	0.83[AMR][1000 genomes]
rs12258652	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12262528	0.83[AMR][1000 genomes]
rs12265111	0.83[AMR][1000 genomes]
rs12265193	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12266154	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12268202	0.83[AMR][1000 genomes]
rs12269297	1.00[AMR][1000 genomes]
rs16927590	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16927614	0.83[AMR][1000 genomes]
rs1819351	0.83[AMR][1000 genomes]
rs1985042	0.83[AMR][1000 genomes]
rs2026016	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs3904096	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs3938775	0.83[AMR][1000 genomes]
rs61700379	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7068288	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7073841	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7074378	0.83[AMR][1000 genomes]
rs7075878	0.91[AMR][1000 genomes]
rs7079339	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7081194	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7086388	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7091699	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7096132	0.83[AMR][1000 genomes]
rs728691	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs728692	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7897372	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7904085	0.83[AMR][1000 genomes]
rs7904245	0.83[AMR][1000 genomes]
rs7907587	0.83[AMR][1000 genomes]
rs7910237	0.83[AMR][1000 genomes]
rs7910765	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27441200-27445800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr10:27441200-27446200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr10:27441200-27446200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr10:27441200-27446200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:27441200-27446400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr10:27441200-27446400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr10:27441200-27446400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr10:27441600-27445400	Active TSS	Aorta	Aorta
9	chr10:27441600-27445600	Active TSS	Right Atrium	heart
10	chr10:27441600-27446200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr10:27441800-27445400	Active TSS	HSMMtube	muscle
12	chr10:27441800-27445600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:27441800-27446000	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr10:27441800-27446200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr10:27442000-27445200	Active TSS	Lung	lung
16	chr10:27442000-27445400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr10:27442000-27445400	Active TSS	Left Ventricle	heart
18	chr10:27442000-27445400	Active TSS	Right Ventricle	heart
19	chr10:27442000-27445400	Active TSS	NHEK	skin
20	chr10:27442000-27445600	Active TSS	Colonic Mucosa	Colon
21	chr10:27442000-27445600	Active TSS	HSMM	muscle
22	chr10:27442000-27445600	Active TSS	NHLF	lung
23	chr10:27442000-27445800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:27442000-27445800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:27442000-27445800	Active TSS	A549	lung
26	chr10:27442000-27446000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:27442000-27446000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:27442000-27446000	Active TSS	Muscle Satellite Cultured Cells	--
29	chr10:27442000-27446000	Active TSS	NHDF-Ad	bronchial
30	chr10:27442000-27446200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr10:27442000-27446200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:27442000-27446200	Active TSS	GM12878-XiMat	blood
33	chr10:27442000-27446200	Active TSS	Hela-S3	cervix
34	chr10:27442200-27445200	Active TSS	Fetal Brain Male	brain
35	chr10:27442200-27445200	Active TSS	Ovary	ovary
36	chr10:27442200-27445400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr10:27442200-27445400	Active TSS	Fetal Intestine Large	intestine
38	chr10:27442200-27445400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr10:27442200-27445400	Active TSS	Fetal Lung	lung
40	chr10:27442200-27445400	Active TSS	Placenta Amnion	Placenta Amnion
41	chr10:27442200-27445600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr10:27442200-27445600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr10:27442200-27445600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:27442200-27445600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr10:27442200-27445600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr10:27442200-27445600	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr10:27442200-27445600	Active TSS	Fetal Intestine Small	intestine
48	chr10:27442200-27445600	Active TSS	Fetal Kidney	kidney
49	chr10:27442200-27445600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr10:27442200-27445600	Active TSS	Sigmoid Colon	Sigmoid Colon

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