Variant report

Variant	rs7896012
Chromosome Location	chr10:27429077-27429078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:27425881-27429350	K562	blood:	n/a	n/a
2	POLR2A	chr10:27428866-27429381	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:27428988-27429413	A549	lung:	n/a	n/a
4	POLR2A	chr10:27428857-27429382	GM12892	blood:	n/a	n/a
5	POLR2A	chr10:27428957-27429248	GM12891	blood:	n/a	n/a
6	POLR2A	chr10:27428879-27429267	GM12891	blood:	n/a	n/a
7	POLR2A	chr10:27428876-27429367	GM12892	blood:	n/a	n/a
8	POLR2A	chr10:27428897-27429160	K562	blood:	n/a	n/a
9	POLR2A	chr10:27424441-27430915	HepG2	liver:	n/a	n/a
10	POLR2A	chr10:27428870-27429479	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:27428914-27429110	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr10:27428934-27429393	GM12891	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:27415890..27418210-chr10:27426532..27429546,3	K562	blood:
2	chr10:27428602..27430757-chr10:27441984..27444205,3	K562	blood:
3	chr10:27424774..27426638-chr10:27427072..27429672,2	MCF-7	breast:

No data

Variant related genes	Relation type
YME1L1	TF binding region
ENSG00000136758	Chromatin interaction
ENSG00000120539	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10764673	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10764675	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10764676	0.92[ASN][1000 genomes]
rs10764680	0.81[ASN][1000 genomes]
rs10764684	0.89[ASN][1000 genomes]
rs10829180	0.81[ASN][1000 genomes]
rs10829181	0.81[ASN][1000 genomes]
rs10829183	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10829185	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10829188	0.91[ASN][1000 genomes]
rs10829191	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10829192	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10829193	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10829194	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10829197	0.80[ASN][1000 genomes]
rs10829200	0.89[ASN][1000 genomes]
rs11015522	0.81[ASN][1000 genomes]
rs11015529	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11015530	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11015532	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11015536	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11015538	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015542	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015548	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015549	0.92[ASN][1000 genomes]
rs11015553	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11015554	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015555	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015556	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015558	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015559	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015560	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015563	0.92[ASN][1000 genomes]
rs11015564	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015565	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015566	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015570	0.92[ASN][1000 genomes]
rs11015571	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11015586	0.89[ASN][1000 genomes]
rs11813670	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12255977	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12259472	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12571792	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572344	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12766193	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12768114	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12769335	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12784464	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1360007	0.92[ASN][1000 genomes]
rs1981296	0.89[ASN][1000 genomes]
rs2185808	0.87[ASN][1000 genomes]
rs2274634	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274635	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2274743	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275752	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2297143	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2297145	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2297147	0.81[ASN][1000 genomes]
rs2297151	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297152	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2368217	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2887190	0.89[ASN][1000 genomes]
rs3758403	0.89[ASN][1000 genomes]
rs3780920	0.92[ASN][1000 genomes]
rs3780921	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780922	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780926	0.92[ASN][1000 genomes]
rs3781100	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3824593	0.92[ASN][1000 genomes]
rs3904244	0.86[ASN][1000 genomes]
rs3932559	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4018760	0.82[ASN][1000 genomes]
rs4142123	0.92[ASN][1000 genomes]
rs4747585	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4749225	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4749226	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55741077	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55955460	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6482596	0.92[ASN][1000 genomes]
rs6482600	0.89[ASN][1000 genomes]
rs6482601	0.89[ASN][1000 genomes]
rs67177346	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67425403	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7067696	0.92[ASN][1000 genomes]
rs7068375	0.90[ASN][1000 genomes]
rs7069942	0.90[ASN][1000 genomes]
rs7070117	0.90[ASN][1000 genomes]
rs7073381	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7075448	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7079792	0.89[ASN][1000 genomes]
rs7079885	0.89[ASN][1000 genomes]
rs7083768	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7086311	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7086820	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7091128	0.89[ASN][1000 genomes]
rs7091723	0.89[ASN][1000 genomes]
rs7477806	0.89[ASN][1000 genomes]
rs7894187	0.85[ASN][1000 genomes]
rs7900024	0.92[ASN][1000 genomes]
rs7901653	0.92[ASN][1000 genomes]
rs7901976	0.92[ASN][1000 genomes]
rs7902690	0.86[ASN][1000 genomes]
rs7907492	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7909444	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7910367	0.88[ASN][1000 genomes]
rs7910396	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7910430	0.81[ASN][1000 genomes]
rs7910688	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7914630	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918395	0.87[ASN][1000 genomes]
rs7921222	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7921980	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882474	0.89[ASN][1000 genomes]
rs9299837	0.89[ASN][1000 genomes]
rs9651378	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9971193	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971335	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7896012	MASTL	cis	lung	GTEx
rs7896012	MASTL	cis	Stomach	GTEx
rs7896012	MASTL	cis	Thyroid	GTEx
rs7896012	MASTL	cis	Skin Sun Exposed Lower leg	GTEx
rs7896012	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	chr10:27390200-27435000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr10:27393800-27438600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:27394200-27432600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:27394800-27432800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:27395400-27437800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:27396200-27440600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:27396800-27432000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:27397600-27438600	Strong transcription	Fetal Thymus	thymus
11	chr10:27398200-27434200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:27398400-27435200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr10:27398600-27431600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr10:27398600-27434800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:27398600-27434800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr10:27398600-27434800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr10:27398600-27436400	Strong transcription	Dnd41	blood
18	chr10:27398800-27438200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr10:27398800-27438200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:27399000-27431400	Strong transcription	Placenta	Placenta
21	chr10:27399600-27435200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:27399600-27438400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr10:27399800-27438600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr10:27400400-27438400	Strong transcription	Liver	Liver
25	chr10:27401200-27435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:27403200-27431600	Strong transcription	NH-A	brain
27	chr10:27407800-27436400	Weak transcription	Right Ventricle	heart
28	chr10:27411200-27436000	Weak transcription	Esophagus	oesophagus
29	chr10:27412400-27440200	Weak transcription	Fetal Heart	heart
30	chr10:27413600-27430800	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:27415400-27436200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr10:27416800-27430800	Strong transcription	HUVEC	blood vessel
33	chr10:27418000-27436400	Weak transcription	Spleen	Spleen
34	chr10:27418200-27430000	Weak transcription	Pancreas	Pancrea
35	chr10:27419200-27438600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr10:27419200-27438800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr10:27419400-27441400	Weak transcription	Stomach Mucosa	stomach
38	chr10:27419800-27436200	Weak transcription	Gastric	stomach
39	chr10:27421000-27430800	Weak transcription	Hela-S3	cervix
40	chr10:27421000-27436200	Weak transcription	Fetal Brain Male	brain
41	chr10:27421200-27430000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr10:27421800-27431600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:27423400-27436400	Weak transcription	Colonic Mucosa	Colon
44	chr10:27423600-27430000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr10:27423600-27431400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr10:27423600-27435000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr10:27423800-27435600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr10:27424000-27430000	Weak transcription	Ovary	ovary
49	chr10:27424000-27430200	Weak transcription	Psoas Muscle	Psoas
50	chr10:27424000-27432800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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