Variant report

Variant	rs4749225
Chromosome Location	chr10:27388524-27388525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27387680..27390568-chr10:27529145..27530975,2	K562	blood:

Variant related genes	Relation type
ENSG00000107897	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10734064	0.88[ASN][1000 genomes]
rs10764664	0.84[ASN][1000 genomes]
rs10764665	0.84[ASN][1000 genomes]
rs10764667	0.86[ASN][1000 genomes]
rs10764668	0.88[ASN][1000 genomes]
rs10764669	0.88[ASN][1000 genomes]
rs10764673	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10764675	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10829162	0.84[ASN][1000 genomes]
rs10829163	0.85[ASN][1000 genomes]
rs10829164	0.85[ASN][1000 genomes]
rs10829167	0.85[ASN][1000 genomes]
rs10829172	0.87[ASN][1000 genomes]
rs10829173	0.87[ASN][1000 genomes]
rs10829174	0.87[ASN][1000 genomes]
rs10829176	0.88[ASN][1000 genomes]
rs10829180	0.89[ASN][1000 genomes]
rs10829181	0.89[ASN][1000 genomes]
rs10829183	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10829185	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10829191	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10829192	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10829193	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10829194	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11015446	0.82[ASN][1000 genomes]
rs11015455	0.84[ASN][1000 genomes]
rs11015456	0.84[ASN][1000 genomes]
rs11015457	0.84[ASN][1000 genomes]
rs11015461	0.85[ASN][1000 genomes]
rs11015522	0.89[ASN][1000 genomes]
rs11015529	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11015530	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11015532	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11015536	0.81[EUR][1000 genomes]
rs11015538	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11015542	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11015548	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11015553	0.81[EUR][1000 genomes]
rs11015554	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11015555	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11015556	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11015558	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11015559	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11015560	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11015564	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11015565	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11015566	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11015571	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11813670	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12259472	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12355862	0.82[ASN][1000 genomes]
rs12571792	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12572344	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12766193	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12768114	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12769335	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12784464	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2274634	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2274635	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2274741	0.82[ASN][1000 genomes]
rs2274743	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2275752	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2297143	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2297145	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2297147	0.89[ASN][1000 genomes]
rs2297151	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2297152	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2368217	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34844053	0.85[ASN][1000 genomes]
rs35995872	0.85[ASN][1000 genomes]
rs3737054	0.86[EUR][1000 genomes]
rs3737055	0.86[ASN][1000 genomes]
rs3780921	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3780922	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3781100	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3824691	0.85[ASN][1000 genomes]
rs3904244	0.94[ASN][1000 genomes]
rs3932559	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4018760	0.85[ASN][1000 genomes]
rs4481929	0.84[ASN][1000 genomes]
rs4747581	0.85[ASN][1000 genomes]
rs4747585	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4749213	0.82[ASN][1000 genomes]
rs4749214	0.82[ASN][1000 genomes]
rs4749216	0.84[ASN][1000 genomes]
rs4749226	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55741077	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55955460	0.81[EUR][1000 genomes]
rs67177346	0.81[EUR][1000 genomes]
rs67425403	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7073381	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7075448	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7083768	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7086311	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7086820	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7087089	0.84[ASN][1000 genomes]
rs7088171	0.84[ASN][1000 genomes]
rs7477806	0.81[ASN][1000 genomes]
rs7896012	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7902690	0.94[ASN][1000 genomes]
rs7909444	0.81[EUR][1000 genomes]
rs7909684	0.88[ASN][1000 genomes]
rs7910396	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7910430	0.89[ASN][1000 genomes]
rs7910688	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7914630	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7921222	0.81[EUR][1000 genomes]
rs7921980	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9651378	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9971193	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9971335	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3364452	chr10:27385286-27395686	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv3369347	chr10:27385331-27395478	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4749225	LINC00202-1	cis	Nerve Tibial	GTEx
rs4749225	YME1L1	Cis_1M	lymphoblastoid	RTeQTL
rs4749225	MASTL	cis	Skin Sun Exposed Lower leg	GTEx
rs4749225	MASTL	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27313200-27388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr10:27314600-27388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:27323400-27388600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:27362600-27388800	Weak transcription	Gastric	stomach
5	chr10:27362800-27388600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr10:27366600-27388600	Weak transcription	Fetal Kidney	kidney
7	chr10:27370000-27388600	Weak transcription	Aorta	Aorta
8	chr10:27378800-27388600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr10:27378800-27388800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:27378800-27388800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr10:27382800-27388600	Weak transcription	HSMMtube	muscle
12	chr10:27383000-27388600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr10:27383000-27388600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr10:27383000-27388600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:27387800-27388600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr10:27387800-27388600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr10:27387800-27388600	Enhancers	Fetal Heart	heart
18	chr10:27387800-27388800	Enhancers	Left Ventricle	heart
19	chr10:27388000-27388600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr10:27388000-27388600	Enhancers	Fetal Brain Male	brain
21	chr10:27388000-27388600	Enhancers	Small Intestine	intestine
22	chr10:27388000-27388800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:27388000-27388800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:27388000-27388800	Flanking Active TSS	Dnd41	blood
25	chr10:27388000-27389000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:27388000-27390000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:27388000-27390000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:27388200-27388600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:27388200-27388600	Enhancers	Primary B cells from peripheral blood	blood
30	chr10:27388200-27388600	Enhancers	Primary T cells from cord blood	blood
31	chr10:27388200-27388600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr10:27388200-27388600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr10:27388200-27388600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr10:27388200-27388600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr10:27388200-27388600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr10:27388200-27388600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr10:27388200-27388600	Enhancers	Liver	Liver
38	chr10:27388200-27388600	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr10:27388200-27388600	Enhancers	Fetal Lung	lung
40	chr10:27388200-27388600	Flanking Active TSS	Right Atrium	heart
41	chr10:27388200-27388600	Flanking Active TSS	Right Ventricle	heart
42	chr10:27388200-27388600	Enhancers	Stomach Mucosa	stomach
43	chr10:27388200-27388600	Flanking Active TSS	GM12878-XiMat	blood
44	chr10:27388200-27388600	Flanking Active TSS	NHLF	lung
45	chr10:27388200-27388800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr10:27388200-27388800	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr10:27388200-27388800	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr10:27388200-27388800	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr10:27388200-27388800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr10:27388200-27388800	Flanking Active TSS	Stomach Smooth Muscle	stomach

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