Variant report

Variant	rs498892
Chromosome Location	chr11:104918417-104918418
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	CEBPB	chr11:104917575-104918420	Hela-S3	cervix:	n/a	n/a
2	ARID3A	chr11:104917801-104918523	HepG2	liver:	n/a	n/a
3	FOS	chr11:104917668-104918768	HUVEC	blood vessel:	n/a	chr11:104918680-104918692 chr11:104918128-104918135 chr11:104917968-104917978 chr11:104917967-104917979 chr11:104917968-104917978 chr11:104918127-104918135 chr11:104918125-104918136 chr11:104917969-104917977
4	MAX	chr11:104917664-104918437	A549	lung:	n/a	chr11:104917969-104917978 chr11:104917790-104917798
5	EP300	chr11:104917645-104918417	A549	lung:	n/a	chr11:104918143-104918153
6	CEBPB	chr11:104917671-104918417	IMR90	lung:	n/a	n/a
7	FOXA1	chr11:104917690-104918429	HepG2	liver:	n/a	chr11:104917944-104917956
8	MAX	chr11:104917804-104918434	HepG2	liver:	n/a	chr11:104917969-104917978
9	POLR2A	chr11:104917639-104918493	HUVEC	blood vessel:	n/a	n/a
10	FOS	chr11:104917690-104918425	MCF10A-Er-Src	breast:	n/a	chr11:104918128-104918135 chr11:104917968-104917978 chr11:104917967-104917979 chr11:104917968-104917978 chr11:104918127-104918135 chr11:104918125-104918136 chr11:104917969-104917977
11	MYBL2	chr11:104917734-104918579	HepG2	liver:	n/a	n/a
12	EP300	chr11:104917677-104918422	A549	lung:	n/a	chr11:104918143-104918153
13	MAFK	chr11:104917664-104918461	Hela-S3	cervix:	n/a	n/a
14	GATA3	chr11:104917571-104918585	A549	lung:	n/a	chr11:104917718-104917728
15	NFIC	chr11:104917811-104918543	HepG2	liver:	n/a	n/a
16	SP1	chr11:104917544-104918459	A549	lung:	n/a	n/a
17	TEAD4	chr11:104917687-104918511	HepG2	liver:	n/a	n/a
18	MBD4	chr11:104917855-104918494	HepG2	liver:	n/a	n/a
19	RCOR1	chr11:104917200-104918570	IMR90	lung:	n/a	n/a
20	FOXA2	chr11:104917624-104918591	HepG2	liver:	n/a	chr11:104917944-104917956
21	MXI1	chr11:104917413-104918491	IMR90	lung:	n/a	n/a
22	FOSL2	chr11:104917586-104918443	A549	lung:	n/a	chr11:104918128-104918135 chr11:104917968-104917978 chr11:104917967-104917979 chr11:104917968-104917978 chr11:104918127-104918135 chr11:104917969-104917977
23	TCF12	chr11:104917543-104918521	A549	lung:	n/a	n/a
24	SP1	chr11:104917619-104918455	A549	lung:	n/a	n/a
25	FOXA1	chr11:104917756-104918463	HepG2	liver:	n/a	chr11:104917944-104917956

Variant related genes	Relation type
CARD16	TF binding region

Extended variants
information (count: 172 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs10502046	1.00[ASN][1000 genomes]
rs12281540	1.00[ASN][1000 genomes]
rs12416756	1.00[ASN][1000 genomes]
rs12417050	1.00[ASN][1000 genomes]
rs12417470	1.00[ASN][1000 genomes]
rs12419220	1.00[ASN][1000 genomes]
rs12420524	1.00[ASN][1000 genomes]
rs12420557	1.00[ASN][1000 genomes]
rs12420601	1.00[ASN][1000 genomes]
rs12787184	1.00[ASN][1000 genomes]
rs12796365	1.00[ASN][1000 genomes]
rs12797290	1.00[ASN][1000 genomes]
rs12797298	1.00[ASN][1000 genomes]
rs12798696	1.00[ASN][1000 genomes]
rs12800151	1.00[ASN][1000 genomes]
rs12801987	1.00[ASN][1000 genomes]
rs12806837	1.00[ASN][1000 genomes]
rs1354322	1.00[ASN][1000 genomes]
rs1503386	1.00[ASN][1000 genomes]
rs1503391	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503395	1.00[ASN][1000 genomes]
rs1699089	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1699090	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103597	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103670	1.00[ASN][1000 genomes]
rs17103773	1.00[ASN][1000 genomes]
rs17103781	1.00[ASN][1000 genomes]
rs17103836	1.00[ASN][1000 genomes]
rs17103858	1.00[ASN][1000 genomes]
rs17103866	1.00[ASN][1000 genomes]
rs17103873	1.00[ASN][1000 genomes]
rs17376738	1.00[ASN][1000 genomes]
rs17377910	1.00[ASN][1000 genomes]
rs17378343	1.00[ASN][1000 genomes]
rs1792749	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792774	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1847301	1.00[ASN][1000 genomes]
rs2047840	1.00[ASN][1000 genomes]
rs2047841	1.00[ASN][1000 genomes]
rs2062807	1.00[ASN][1000 genomes]
rs2062808	1.00[ASN][1000 genomes]
rs2155817	1.00[ASN][1000 genomes]
rs34105770	1.00[ASN][1000 genomes]
rs34146979	1.00[ASN][1000 genomes]
rs34255114	1.00[ASN][1000 genomes]
rs34819285	1.00[ASN][1000 genomes]
rs35120805	1.00[ASN][1000 genomes]
rs35394521	1.00[ASN][1000 genomes]
rs35560124	1.00[ASN][1000 genomes]
rs35565964	1.00[ASN][1000 genomes]
rs35743576	1.00[ASN][1000 genomes]
rs35995863	1.00[ASN][1000 genomes]
rs473394	1.00[ASN][1000 genomes]
rs473549	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs475266	1.00[ASN][1000 genomes]
rs4754122	1.00[ASN][1000 genomes]
rs4754123	1.00[ASN][1000 genomes]
rs4754124	1.00[ASN][1000 genomes]
rs4754125	1.00[ASN][1000 genomes]
rs4755076	1.00[ASN][1000 genomes]
rs4755077	1.00[ASN][1000 genomes]
rs4755078	1.00[ASN][1000 genomes]
rs4755079	1.00[ASN][1000 genomes]
rs4755080	1.00[ASN][1000 genomes]
rs4755081	1.00[ASN][1000 genomes]
rs476889	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs481736	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs481926	1.00[ASN][1000 genomes]
rs483345	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484626	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs486123	1.00[ASN][1000 genomes]
rs486537	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486576	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs486641	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487128	1.00[ASN][1000 genomes]
rs488992	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs489715	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs490565	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492366	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492519	1.00[ASN][1000 genomes]
rs492859	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492981	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs493426	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs493814	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs496875	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs497638	0.96[EUR][1000 genomes]
rs500577	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501192	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501394	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501429	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501626	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs503153	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504054	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505901	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507438	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507509	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs508149	1.00[ASN][1000 genomes]
rs516255	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs516286	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517736	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518878	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518993	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519047	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520001	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs524048	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526167	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs528076	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529649	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs530009	1.00[ASN][1000 genomes]
rs531542	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs531604	1.00[ASN][1000 genomes]
rs533050	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533436	1.00[ASN][1000 genomes]
rs534338	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534811	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535566	1.00[ASN][1000 genomes]
rs536909	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537014	1.00[ASN][1000 genomes]
rs538943	1.00[ASN][1000 genomes]
rs538984	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539595	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542226	1.00[ASN][1000 genomes]
rs542571	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542774	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs545911	1.00[ASN][1000 genomes]
rs546210	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546449	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548785	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs552134	1.00[ASN][1000 genomes]
rs554344	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs555301	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs556205	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs557905	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs558315	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560880	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567303	1.00[ASN][1000 genomes]
rs568910	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571593	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs572031	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572687	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572980	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs573440	1.00[ASN][1000 genomes]
rs580253	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67513506	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67835723	1.00[ASN][1000 genomes]
rs692897	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692914	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117758	1.00[ASN][1000 genomes]
rs71484389	1.00[ASN][1000 genomes]
rs71484390	1.00[ASN][1000 genomes]
rs71484391	1.00[ASN][1000 genomes]
rs71484394	1.00[ASN][1000 genomes]
rs71484399	1.00[ASN][1000 genomes]
rs71484400	1.00[ASN][1000 genomes]
rs71484401	1.00[ASN][1000 genomes]
rs71484402	1.00[ASN][1000 genomes]
rs7928549	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929852	1.00[ASN][1000 genomes]
rs7930712	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
4	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
5	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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	13 gene(s)	inside rSNPs	diseases
7	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv468863	chr11:104875261-104918517	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
9	nsv556219	chr11:104875261-104918517	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	esv2757475	chr11:104895876-104979717	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv2759863	chr11:104895876-104979717	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv517089	chr11:104915563-104930676	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
13	nsv470	chr11:104916361-104961230	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104912600-104920800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:104915800-104918600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr11:104915800-104920400	Enhancers	HepG2	liver
4	chr11:104916200-104920200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:104916400-104918600	Enhancers	Osteobl	bone
6	chr11:104916400-104919800	Enhancers	Hela-S3	cervix
7	chr11:104916800-104918800	Enhancers	NHDF-Ad	bronchial
8	chr11:104916800-104920400	Weak transcription	Small Intestine	intestine
9	chr11:104916800-104924400	Weak transcription	Left Ventricle	heart
10	chr11:104917200-104919000	Enhancers	Colon Smooth Muscle	Colon
11	chr11:104918000-104918600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:104918000-104920200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:104918000-104922200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:104918200-104918600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:104918200-104918600	Enhancers	Adipose Nuclei	Adipose
16	chr11:104918200-104920000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:104918200-104920000	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:104918200-104921000	Weak transcription	Gastric	stomach
19	chr11:104918200-104925200	Weak transcription	Ovary	ovary
20	chr11:104918400-104918600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:104918400-104918600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:104918400-104919600	Enhancers	HUVEC	blood vessel
23	chr11:104918400-104920000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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