Variant report

Variant	rs34522667
Chromosome Location	chr10:27445348-27445349
allele	A/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	chr10:27442481-27445646	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr10:27442288-27445640	SK-N-SH	brain:	n/a	n/a
3	MAX	chr10:27444889-27445500	Hela-S3	cervix:	n/a	n/a
4	CHD1	chr10:27441735-27445646	IMR90	lung:	n/a	n/a
5	POLR2A	chr10:27442701-27445350	PFSK-1	brain:	n/a	n/a
6	JUN	chr10:27442431-27445590	K562	blood:	n/a	chr10:27442679-27442688 chr10:27444114-27444127
7	POLR2A	chr10:27442873-27445408	SK-N-MC	brain:	n/a	n/a
8	E2F4	chr10:27442520-27445387	MCF10A-Er-Src	breast:	n/a	chr10:27443066-27443078 chr10:27444245-27444254 chr10:27444294-27444305 chr10:27444611-27444621
9	POLR2A	chr10:27442465-27445493	GM12891	blood:	n/a	n/a
10	POLR2A	chr10:27442589-27445354	PBDE	blood:	n/a	n/a
11	MAX	chr10:27442712-27445454	A549	lung:	n/a	chr10:27444264-27444273
12	POLR2A	chr10:27441467-27445416	K562	blood:	n/a	n/a
13	POLR2A	chr10:27442529-27445383	GM12878	blood:	n/a	n/a
14	POLR2A	chr10:27442673-27445467	GM12892	blood:	n/a	n/a
15	POLR2A	chr10:27442618-27445465	GM12892	blood:	n/a	n/a
16	POLR2A	chr10:27441880-27445789	IMR90	lung:	n/a	n/a
17	POLR2A	chr10:27444783-27445417	U87	brain:	n/a	n/a
18	SREBP2	chr10:27442135-27445500	GM12878	blood:	n/a	n/a
19	POLR2A	chr10:27442348-27445465	GM12878	blood:	n/a	n/a
20	SIN3AK20	chr10:27442621-27445447	MCF-7	breast:	n/a	n/a
21	GATA1	chr10:27442531-27445361	PBDE	blood:	n/a	chr10:27442695-27442704 chr10:27444680-27444687 chr10:27442678-27442688
22	POLR2A	chr10:27442531-27445407	GM12878	blood:	n/a	n/a
23	MAX	chr10:27444869-27445364	A549	lung:	n/a	n/a
24	POLR2A	chr10:27442796-27445364	GM19193	blood:	n/a	n/a
25	CHD1	chr10:27445265-27445422	H1-hESC	embryonic stem cell:	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:
5	chr10:27445313..27446905-chr10:27529992..27532345,2	MCF-7	breast:

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

Extended variants
information (count: 118 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs1262128	0.92[ASN][1000 genomes]
rs12762165	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12762717	0.88[ASN][1000 genomes]
rs12763200	0.83[AMR][1000 genomes]
rs12763511	0.89[ASN][1000 genomes]
rs12764139	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12767796	0.85[ASN][1000 genomes]
rs12768409	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12769694	0.83[AMR][1000 genomes]
rs12770357	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12771110	0.89[AMR][1000 genomes]
rs12771194	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12772181	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12772875	0.88[ASN][1000 genomes]
rs12774303	0.81[AMR][1000 genomes]
rs12774750	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12776164	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12779034	0.89[AMR][1000 genomes]
rs12779247	0.89[AMR][1000 genomes]
rs12779577	0.89[AMR][1000 genomes]
rs12782501	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12783012	0.88[ASN][1000 genomes]
rs12783136	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12784807	0.83[AMR][1000 genomes]
rs1618826	0.89[ASN][1000 genomes]
rs1753387	0.88[ASN][1000 genomes]
rs1753394	0.89[ASN][1000 genomes]
rs1775348	0.89[ASN][1000 genomes]
rs1775354	0.88[ASN][1000 genomes]
rs1974364	0.89[ASN][1000 genomes]
rs2274636	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274637	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2297146	0.88[ASN][1000 genomes]
rs2297149	0.88[ASN][1000 genomes]
rs2297150	0.88[ASN][1000 genomes]
rs34015752	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34031905	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34052005	0.89[AMR][1000 genomes]
rs34056679	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34076423	0.83[AMR][1000 genomes]
rs34111633	0.88[ASN][1000 genomes]
rs34124770	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34283610	0.88[ASN][1000 genomes]
rs34321267	0.89[AMR][1000 genomes]
rs34327621	0.89[AMR][1000 genomes]
rs34341620	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34358341	0.91[ASN][1000 genomes]
rs34374169	0.83[AMR][1000 genomes]
rs34383490	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34452993	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34601860	0.88[ASN][1000 genomes]
rs34677446	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34743977	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34759695	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34795543	0.83[AMR][1000 genomes]
rs34827390	0.89[AMR][1000 genomes]
rs34905025	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35093122	0.81[AMR][1000 genomes]
rs35096435	0.83[AMR][1000 genomes]
rs35149458	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35175128	0.88[ASN][1000 genomes]
rs35209475	0.84[EUR][1000 genomes]
rs35211507	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35251443	0.88[ASN][1000 genomes]
rs35416395	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35446173	0.89[AMR][1000 genomes]
rs35462097	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35564547	0.83[AMR][1000 genomes]
rs35583773	0.89[AMR][1000 genomes]
rs35591841	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35657233	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35671200	0.88[ASN][1000 genomes]
rs35677484	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35693801	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35710580	0.89[AMR][1000 genomes]
rs35729975	0.89[AMR][1000 genomes]
rs35844030	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35928931	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36045549	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36050714	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36068675	0.81[AMR][1000 genomes]
rs3737056	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3758438	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3781099	0.83[AMR][1000 genomes]
rs3818634	0.89[AMR][1000 genomes]
rs4749239	0.82[ASN][1000 genomes]
rs56254415	0.83[AMR][1000 genomes]
rs57671772	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6482604	0.89[ASN][1000 genomes]
rs66494764	0.83[AMR][1000 genomes]
rs66520317	0.80[AMR][1000 genomes]
rs66585308	0.83[AMR][1000 genomes]
rs66853312	0.88[ASN][1000 genomes]
rs66931439	0.89[AMR][1000 genomes]
rs67068137	0.88[ASN][1000 genomes]
rs67262546	0.92[ASN][1000 genomes]
rs67629636	0.88[ASN][1000 genomes]
rs67689270	0.83[AMR][1000 genomes]
rs68087481	0.83[AMR][1000 genomes]
rs7078662	0.85[ASN][1000 genomes]
rs71483827	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72805468	0.83[AMR][1000 genomes]
rs72807627	0.83[AMR][1000 genomes]
rs72807629	0.83[AMR][1000 genomes]
rs72807634	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72807640	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72807644	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72807660	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs788199	0.88[ASN][1000 genomes]
rs788201	0.88[ASN][1000 genomes]
rs788202	0.88[ASN][1000 genomes]
rs788203	0.88[ASN][1000 genomes]
rs788205	0.89[ASN][1000 genomes]
rs788207	0.89[ASN][1000 genomes]
rs788228	0.87[ASN][1000 genomes]
rs788230	0.91[ASN][1000 genomes]
rs788232	0.91[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34522667	YME1L1	Cis_1M	lymphoblastoid	RTeQTL

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	chr10:27442000-27445400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr10:27442000-27445400	Active TSS	Left Ventricle	heart
17	chr10:27442000-27445400	Active TSS	Right Ventricle	heart
18	chr10:27442000-27445400	Active TSS	NHEK	skin
19	chr10:27442000-27445600	Active TSS	Colonic Mucosa	Colon
20	chr10:27442000-27445600	Active TSS	HSMM	muscle
21	chr10:27442000-27445600	Active TSS	NHLF	lung
22	chr10:27442000-27445800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:27442000-27445800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:27442000-27445800	Active TSS	A549	lung
25	chr10:27442000-27446000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:27442000-27446000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:27442000-27446000	Active TSS	Muscle Satellite Cultured Cells	--
28	chr10:27442000-27446000	Active TSS	NHDF-Ad	bronchial
29	chr10:27442000-27446200	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr10:27442000-27446200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:27442000-27446200	Active TSS	GM12878-XiMat	blood
32	chr10:27442000-27446200	Active TSS	Hela-S3	cervix
33	chr10:27442200-27445400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr10:27442200-27445400	Active TSS	Fetal Intestine Large	intestine
35	chr10:27442200-27445400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr10:27442200-27445400	Active TSS	Fetal Lung	lung
37	chr10:27442200-27445400	Active TSS	Placenta Amnion	Placenta Amnion
38	chr10:27442200-27445600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr10:27442200-27445600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr10:27442200-27445600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:27442200-27445600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr10:27442200-27445600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr10:27442200-27445600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr10:27442200-27445600	Active TSS	Fetal Intestine Small	intestine
45	chr10:27442200-27445600	Active TSS	Fetal Kidney	kidney
46	chr10:27442200-27445600	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr10:27442200-27445600	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr10:27442200-27445800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr10:27442200-27446000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:27442200-27446000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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