Variant report

Variant	rs11048190
Chromosome Location	chr12:9104939-9104940
allele	C/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	chr12:9104849-9104951	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9103173..9107180-chr12:9112850..9116183,4	K562	blood:
2	chr12:9103173..9105935-chr12:9114683..9116241,2	K562	blood:

Variant related genes	Relation type
M6PR	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10129061	0.83[ASN][1000 genomes]
rs10400516	0.81[ASN][1000 genomes]
rs1049925	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1073159	0.82[EUR][1000 genomes]
rs10743568	0.82[ASN][1000 genomes]
rs10771238	0.82[ASN][1000 genomes]
rs10842537	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10842660	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10842662	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11047953	0.84[EUR][1000 genomes]
rs11048023	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11048195	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048264	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11048337	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048338	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048344	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048345	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1124402	0.83[EUR][1000 genomes]
rs11494569	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11494570	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11611106	0.83[EUR][1000 genomes]
rs11613650	0.83[EUR][1000 genomes]
rs11614202	0.89[ASN][1000 genomes]
rs12371786	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12422905	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12423746	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12423817	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12424026	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12581860	0.87[AMR][1000 genomes]
rs12812913	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12814670	0.83[EUR][1000 genomes]
rs12815310	0.83[EUR][1000 genomes]
rs12820395	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12821842	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12823100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12824140	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12824380	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12827055	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12827988	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12828902	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12833375	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1476911	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805248	0.89[ASN][1000 genomes]
rs1805721	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1805722	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1805723	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1805724	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805725	0.89[ASN][1000 genomes]
rs1805727	0.88[ASN][1000 genomes]
rs1805732	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805733	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805735	0.81[ASN][1000 genomes]
rs1805736	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1805737	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1805745	0.84[EUR][1000 genomes]
rs1805754	0.84[ASN][1000 genomes]
rs1805761	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805765	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1805784	0.84[EUR][1000 genomes]
rs2041624	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2041625	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2080116	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2080117	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2110190	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2110191	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2110192	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2110193	0.83[EUR][1000 genomes]
rs2159961	0.83[EUR][1000 genomes]
rs2377671	0.84[ASN][1000 genomes]
rs2377672	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2377673	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2377674	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34285491	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34798934	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35870866	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4254119	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4309200	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4639983	0.83[ASN][1000 genomes]
rs4883203	0.82[ASN][1000 genomes]
rs7300767	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7301381	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7302417	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7303776	0.83[EUR][1000 genomes]
rs7309922	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7314942	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7315055	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7957321	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7961355	0.83[ASN][1000 genomes]
rs933462	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs987917	0.84[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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11048190	KLRG1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9102800-9105000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr12:9103000-9109400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:9103200-9105400	Weak transcription	Gastric	stomach
4	chr12:9103400-9105600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:9103400-9112000	Weak transcription	Pancreas	Pancrea
6	chr12:9103400-9116400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:9103600-9105000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:9103600-9105000	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:9103600-9105200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:9103600-9105200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:9103600-9105400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:9103600-9105400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:9103600-9105600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:9103600-9105600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:9103600-9105600	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:9103600-9105600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:9103600-9105600	Weak transcription	Fetal Intestine Small	intestine
18	chr12:9103600-9105800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:9103600-9110400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:9103600-9114000	Weak transcription	Fetal Kidney	kidney
21	chr12:9103600-9114200	Weak transcription	Aorta	Aorta
22	chr12:9103600-9114400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:9103600-9114600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:9103800-9105000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr12:9103800-9105200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr12:9103800-9105400	Weak transcription	Liver	Liver
27	chr12:9103800-9105800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:9103800-9107200	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr12:9104000-9105000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:9104000-9105000	Enhancers	Thymus	Thymus
31	chr12:9104000-9105400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:9104000-9105600	Weak transcription	Left Ventricle	heart
33	chr12:9104000-9105800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:9104000-9106000	Weak transcription	Fetal Brain Female	brain
35	chr12:9104000-9108400	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:9104000-9108400	Weak transcription	Right Ventricle	heart
37	chr12:9104000-9108600	Weak transcription	Fetal Stomach	stomach
38	chr12:9104000-9108600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:9104000-9108800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:9104000-9110400	Weak transcription	A549	lung
41	chr12:9104000-9111000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:9104000-9113200	Weak transcription	HepG2	liver
43	chr12:9104000-9114400	Weak transcription	Psoas Muscle	Psoas
44	chr12:9104200-9105000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:9104200-9105000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:9104200-9106000	Weak transcription	Primary B cells from cord blood	blood
47	chr12:9104400-9105000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:9104400-9105200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:9104400-9105400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:9104400-9111200	Weak transcription	Monocytes-CD14+_RO01746	blood

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