Variant report

Variant	rs11877873
Chromosome Location	chr18:242350-242351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:211515..213254-chr18:241268..242902,2	K562	blood:
2	chr18:240829..243989-chr18:256150..258223,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11663945	1.00[ASN][1000 genomes]
rs1274276	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1784375	1.00[ASN][1000 genomes]
rs3132798	1.00[ASN][1000 genomes]
rs34132492	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35228921	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472780	1.00[ASN][1000 genomes]
rs477718	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs478096	1.00[ASN][1000 genomes]
rs484168	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485211	1.00[ASN][1000 genomes]
rs489947	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500596	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505610	1.00[ASN][1000 genomes]
rs507184	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510589	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511573	1.00[ASN][1000 genomes]
rs527035	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530926	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533992	1.00[ASN][1000 genomes]
rs536825	0.86[EUR][1000 genomes]
rs537202	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538786	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541733	1.00[ASN][1000 genomes]
rs543184	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs547590	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551835	1.00[ASN][1000 genomes]
rs553212	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562748	1.00[ASN][1000 genomes]
rs563155	1.00[ASN][1000 genomes]
rs565653	1.00[ASN][1000 genomes]
rs566748	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572981	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585793	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs592537	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598162	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598617	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs605049	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs605877	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609865	1.00[ASN][1000 genomes]
rs610712	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs617421	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621979	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636436	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644363	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645560	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650695	1.00[ASN][1000 genomes]
rs652079	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652504	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs653301	1.00[ASN][1000 genomes]
rs654019	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655983	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659997	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674727	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680201	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680418	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681760	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688023	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692846	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064673	chr18:11543-249310	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1061730	chr18:11543-322183	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1059645	chr18:11543-326679	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv576227	chr18:52933-322183	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1064150	chr18:99036-321710	Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1055303	chr18:112328-304352	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv543527	chr18:112328-304352	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv543530	chr18:112528-932674	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv1067102	chr18:112528-984688	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv543531	chr18:112528-984688	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
11	nsv1066441	chr18:136228-249310	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv1057029	chr18:141491-356238	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv1066995	chr18:141491-415027	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv1064735	chr18:141491-483651	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
15	nsv1062680	chr18:141491-549166	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv1067218	chr18:141491-603796	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv543544	chr18:141491-675519	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
18	nsv1064998	chr18:141491-1095845	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
19	nsv543545	chr18:141491-1095845	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
20	nsv531216	chr18:148763-293736	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
21	nsv532441	chr18:148763-1108997	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
22	nsv530373	chr18:148963-533693	Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
23	nsv482910	chr18:161390-305010	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
24	nsv518642	chr18:196829-331506	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
25	nsv1067432	chr18:219990-290812	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
26	nsv948987	chr18:220071-461872	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
27	nsv948735	chr18:220071-615394	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
28	nsv915747	chr18:225017-287764	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
29	nsv534315	chr18:225061-776966	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
30	nsv909287	chr18:225964-677240	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
31	nsv1056707	chr18:231508-290812	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
32	nsv2174	chr18:240074-285087	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11877873	USP14	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:199800-251000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:212000-256400	Weak transcription	Gastric	stomach
3	chr18:214400-251600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:214400-252000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr18:215800-244000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr18:217200-247000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr18:218000-267400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:218200-245400	Weak transcription	Aorta	Aorta
9	chr18:218400-245600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr18:218600-244800	Weak transcription	Psoas Muscle	Psoas
11	chr18:218600-245200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr18:218600-245400	Weak transcription	Esophagus	oesophagus
13	chr18:218600-245600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:218600-245600	Weak transcription	Brain Angular Gyrus	brain
15	chr18:218600-248200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr18:218600-250400	Weak transcription	Colonic Mucosa	Colon
17	chr18:218600-261400	Weak transcription	Pancreas	Pancrea
18	chr18:218600-267200	Weak transcription	Stomach Mucosa	stomach
19	chr18:219000-245400	Weak transcription	Small Intestine	intestine
20	chr18:219000-247200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr18:219000-251400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr18:219000-251600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr18:219000-267200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:219000-267200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr18:220400-244400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr18:224000-244400	Weak transcription	Fetal Brain Male	brain
27	chr18:224000-248000	Weak transcription	NHLF	lung
28	chr18:224200-244400	Weak transcription	Colon Smooth Muscle	Colon
29	chr18:224200-250600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr18:224800-245200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr18:225000-244400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr18:225000-244600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr18:225000-250800	Weak transcription	HSMMtube	muscle
34	chr18:225200-254600	Weak transcription	Right Ventricle	heart
35	chr18:225400-245200	Weak transcription	Brain Substantia Nigra	brain
36	chr18:225600-245400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr18:225600-251200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr18:225800-246400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr18:225800-250400	Weak transcription	Brain Hippocampus Middle	brain
40	chr18:226400-251200	Weak transcription	NHEK	skin
41	chr18:226600-242800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr18:226600-244400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr18:226600-244600	Weak transcription	GM12878-XiMat	blood
44	chr18:226600-244800	Weak transcription	Brain Anterior Caudate	brain
45	chr18:226800-244600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr18:227000-243000	Weak transcription	HepG2	liver
47	chr18:227000-244600	Weak transcription	A549	lung
48	chr18:227800-242600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr18:227800-244600	Weak transcription	Left Ventricle	heart
50	chr18:227800-251200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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