Variant report

Variant	rs34056679
Chromosome Location	chr10:27438756-27438757
allele	A/C
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	chr10:27438696-27439205	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27422371..27425893-chr10:27437367..27441285,4	K562	blood:
2	chr10:27433200..27434750-chr10:27436541..27439491,2	K562	blood:

Variant related genes	Relation type
MASTL	TF binding region
ENSG00000136758	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1262128	0.89[ASN][1000 genomes]
rs12762165	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12762717	0.91[ASN][1000 genomes]
rs12763200	0.81[EUR][1000 genomes]
rs12763511	0.86[ASN][1000 genomes]
rs12764139	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12767796	0.88[ASN][1000 genomes]
rs12768409	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12769694	0.81[EUR][1000 genomes]
rs12770357	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12771110	0.84[AMR][1000 genomes]
rs12771194	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12772181	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12772875	0.84[ASN][1000 genomes]
rs12774750	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12776164	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12779034	0.84[AMR][1000 genomes]
rs12779247	0.84[AMR][1000 genomes]
rs12779577	0.84[AMR][1000 genomes]
rs12782501	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12783012	0.92[ASN][1000 genomes]
rs12783136	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12784807	0.81[EUR][1000 genomes]
rs1618826	0.86[ASN][1000 genomes]
rs1753387	0.85[ASN][1000 genomes]
rs1753394	0.86[ASN][1000 genomes]
rs1775348	0.86[ASN][1000 genomes]
rs1775354	0.85[ASN][1000 genomes]
rs1974364	0.86[ASN][1000 genomes]
rs2274636	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274637	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297146	0.92[ASN][1000 genomes]
rs2297149	0.92[ASN][1000 genomes]
rs2297150	0.92[ASN][1000 genomes]
rs34015752	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34031905	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34052005	0.84[AMR][1000 genomes]
rs34076423	0.81[EUR][1000 genomes]
rs34111633	0.92[ASN][1000 genomes]
rs34124770	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34283610	0.92[ASN][1000 genomes]
rs34321267	0.84[AMR][1000 genomes]
rs34327621	0.84[AMR][1000 genomes]
rs34341620	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34358341	0.94[ASN][1000 genomes]
rs34374169	0.81[EUR][1000 genomes]
rs34383490	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34452993	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34522667	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34601860	0.92[ASN][1000 genomes]
rs34677446	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34743977	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34759695	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34795543	0.81[EUR][1000 genomes]
rs34827390	0.84[AMR][1000 genomes]
rs34905025	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35096435	0.81[EUR][1000 genomes]
rs35149458	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35175128	0.92[ASN][1000 genomes]
rs35209475	0.82[EUR][1000 genomes]
rs35211507	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35251443	0.92[ASN][1000 genomes]
rs35416395	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35446173	0.84[AMR][1000 genomes]
rs35462097	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35564547	0.81[EUR][1000 genomes]
rs35583773	0.84[AMR][1000 genomes]
rs35591841	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35657233	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35671200	0.92[ASN][1000 genomes]
rs35677484	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35693801	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35710580	0.84[AMR][1000 genomes]
rs35729975	0.84[AMR][1000 genomes]
rs35844030	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35928931	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36045549	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36050714	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36068675	0.81[EUR][1000 genomes]
rs3737056	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3758438	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3781099	0.81[EUR][1000 genomes]
rs3818634	0.84[AMR][1000 genomes]
rs4749219	0.81[ASN][1000 genomes]
rs56254415	0.81[EUR][1000 genomes]
rs57671772	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482604	0.86[ASN][1000 genomes]
rs66494764	0.81[EUR][1000 genomes]
rs66585308	0.81[EUR][1000 genomes]
rs66853312	0.92[ASN][1000 genomes]
rs66931439	0.84[AMR][1000 genomes]
rs67068137	0.92[ASN][1000 genomes]
rs67262546	0.95[ASN][1000 genomes]
rs67629636	0.92[ASN][1000 genomes]
rs67689270	0.81[EUR][1000 genomes]
rs7078662	0.82[ASN][1000 genomes]
rs7080612	0.81[ASN][1000 genomes]
rs71483827	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72805468	0.81[EUR][1000 genomes]
rs72807627	0.81[EUR][1000 genomes]
rs72807629	0.81[EUR][1000 genomes]
rs72807634	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72807640	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72807644	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72807660	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788199	0.85[ASN][1000 genomes]
rs788201	0.85[ASN][1000 genomes]
rs788202	0.85[ASN][1000 genomes]
rs788203	0.85[ASN][1000 genomes]
rs788205	0.86[ASN][1000 genomes]
rs788207	0.86[ASN][1000 genomes]
rs788228	0.83[ASN][1000 genomes]
rs788230	0.87[ASN][1000 genomes]
rs788232	0.87[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
rs34056679	YME1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27389800-27441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:27390000-27442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:27396200-27440600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:27412400-27440200	Weak transcription	Fetal Heart	heart
5	chr10:27419200-27438800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr10:27419400-27441400	Weak transcription	Stomach Mucosa	stomach
7	chr10:27428000-27438800	Strong transcription	Fetal Intestine Large	intestine
8	chr10:27428000-27439000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:27428000-27441400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr10:27428800-27438800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr10:27431800-27440400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr10:27431800-27442000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr10:27432400-27439200	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr10:27432800-27438800	Strong transcription	Placenta	Placenta
15	chr10:27432800-27441400	Weak transcription	Psoas Muscle	Psoas
16	chr10:27435400-27439000	Strong transcription	Fetal Intestine Small	intestine
17	chr10:27435600-27438800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:27435600-27438800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr10:27435600-27442400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:27436600-27439400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr10:27436800-27439400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr10:27436800-27441400	Weak transcription	Small Intestine	intestine
23	chr10:27437000-27439200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr10:27437000-27439200	Strong transcription	Dnd41	blood
25	chr10:27437000-27439400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr10:27437000-27439400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr10:27437000-27440400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:27437000-27441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr10:27437000-27441200	Weak transcription	Colon Smooth Muscle	Colon
30	chr10:27437000-27441200	Weak transcription	HepG2	liver
31	chr10:27437000-27441200	Weak transcription	NHLF	lung
32	chr10:27437000-27441600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr10:27437200-27439600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr10:27437200-27441600	Weak transcription	Colonic Mucosa	Colon
35	chr10:27437400-27441200	Weak transcription	Brain Germinal Matrix	brain
36	chr10:27437400-27441400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr10:27437400-27441600	Weak transcription	Aorta	Aorta
38	chr10:27437400-27442600	Weak transcription	Gastric	stomach
39	chr10:27437400-27442800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr10:27437600-27439200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr10:27437600-27440000	Weak transcription	Ovary	ovary
42	chr10:27437600-27441200	Weak transcription	Brain Angular Gyrus	brain
43	chr10:27437600-27441200	Weak transcription	Fetal Kidney	kidney
44	chr10:27437600-27441200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr10:27437600-27441200	Weak transcription	HMEC	breast
46	chr10:27437600-27441400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:27437600-27441400	Weak transcription	HSMMtube	muscle
48	chr10:27437800-27439200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr10:27437800-27439200	Weak transcription	Fetal Brain Female	brain
50	chr10:27437800-27439200	Weak transcription	Placenta Amnion	Placenta Amnion

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