Variant report

Variant	rs13053765
Chromosome Location	chr22:30485082-30485083
allele	A/G
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	CTCF	chr22:30484940-30485090	WI-38	lung:	n/a	chr22:30485025-30485046 chr22:30485030-30485048
2	CTCF	chr22:30485000-30485150	NHDF-neo	bronchial:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
3	CTCF	chr22:30485000-30485150	Hela-S3	cervix:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
4	RAD21	chr22:30484855-30485313	GM12878	blood:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
5	CTCF	chr22:30485000-30485150	HEEpiC	esophagus:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
6	CTCF	chr22:30485060-30485210	HUVEC	blood vessel:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485101-30485119
7	CTCF	chr22:30484857-30485223	SK-N-SH_RA	brain:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
8	CTCF	chr22:30485056-30485183	HepG2	liver:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485101-30485119
9	KAP1	chr22:30484894-30485299	U2OS	brain:	n/a	n/a
10	CEBPB	chr22:30484956-30485452	H1-hESC	embryonic stem cell:	n/a	n/a
11	FOXM1	chr22:30484852-30485326	GM12878	blood:	n/a	n/a
12	CTCF	chr22:30484980-30485130	A549	lung:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
13	CTCF	chr22:30485060-30485210	NHEK	skin:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485101-30485119
14	CTCF	chr22:30485020-30485170	AG09309	skin:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
15	CEBPB	chr22:30484785-30485456	HCT-116	colon:	n/a	n/a
16	CTCF	chr22:30485020-30485170	Caco-2	colon:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
17	CTCF	chr22:30484940-30485090	HCM	heart:	n/a	chr22:30485025-30485046 chr22:30485030-30485048
18	CTCF	chr22:30484930-30485258	Pancreas_OC	pancreas:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
19	RAD21	chr22:30484779-30485281	MCF-7	breast:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
20	CTCF	chr22:30484799-30485282	K562	blood:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
21	CTCF	chr22:30484798-30485294	A549	lung:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
22	SMC3	chr22:30484813-30485335	Hela-S3	cervix:	n/a	chr22:30485103-30485117 chr22:30485032-30485046
23	RAD21	chr22:30484827-30485299	GM12878	blood:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
24	CTCF	chr22:30485060-30485210	MCF-7	breast:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485101-30485119
25	CTCF	chr22:30485040-30485190	SAEC	small airway:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485101-30485119
26	CTCF	chr22:30485020-30485170	BJ	skin:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
27	CTCF	chr22:30485000-30485150	AoAF	blood vessel:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
28	RAD21	chr22:30484756-30485301	SK-N-SH_RA	brain:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
29	ARID3A	chr22:30484820-30485264	K562	blood:	n/a	n/a
30	CTCF	chr22:30484826-30485350	IMR90	lung:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
31	ARID3A	chr22:30484790-30485331	HepG2	liver:	n/a	n/a
32	CTCF	chr22:30484849-30485360	MCF-7	breast:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
33	CTCF	chr22:30485020-30485170	AG09319	gingival:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
34	STAT3	chr22:30484870-30485263	MCF10A-Er-Src	breast:	n/a	n/a
35	CTCF	chr22:30484794-30485303	T-47D	breast:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
36	CTCF	chr22:30484834-30485319	GM12878	blood:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
37	RAD21	chr22:30484820-30485202	K562	blood:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
38	RAD21	chr22:30484740-30485440	SK-N-SH	brain:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
39	CTCF	chr22:30484873-30485297	A549	lung:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
40	RAD21	chr22:30484750-30485397	HCT-116	colon:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
41	GTF2F1	chr22:30485039-30485159	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr22:30485000-30485150	HEK293	kidney:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
43	CTCF	chr22:30484918-30485213	T-47D	breast:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
44	CTCF	chr22:30485020-30485170	HCM	heart:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
45	CTCF	chr22:30485040-30485190	WERI-Rb-1	eye:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485101-30485119
46	CTCF	chr22:30485020-30485170	AoAF	blood vessel:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
47	CEBPB	chr22:30485012-30485952	A549	lung:	n/a	chr22:30485787-30485798
48	CEBPB	chr22:30484897-30485508	A549	lung:	n/a	n/a
49	RAD21	chr22:30484809-30485304	HepG2	liver:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
50	CTCF	chr22:30485020-30485170	GM12871	blood:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119

No.	Distal block	Cell Line	Cell type
1	chr22:30097693..30098380-chr22:30484799..30485447,2	MCF-7	breast:
2	chr22:30098089..30098947-chr22:30484640..30485526,4	MCF-7	breast:
3	chr22:30097244..30097815-chr22:30485015..30485549,2	MCF-7	breast:
4	chr22:30085533..30086077-chr22:30484646..30485170,2	MCF-7	breast:
5	chr22:29985610..29986509-chr22:30484668..30485434,3	K562	blood:
6	chr22:30092151..30092731-chr22:30484958..30485506,2	K562	blood:
7	chr22:30085941..30086486-chr22:30484564..30485178,2	K562	blood:
8	chr22:29986049..29986619-chr22:30484791..30485600,2	MCF-7	breast:
9	chr22:30031527..30032428-chr22:30484594..30485517,5	K562	blood:

Variant related genes	Relation type
HORMAD2	TF binding region

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1122239	0.86[ASN][1000 genomes]
rs1160671	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12233358	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12484420	0.89[EUR][1000 genomes]
rs12484547	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12484983	0.89[EUR][1000 genomes]
rs13053389	0.89[EUR][1000 genomes]
rs13054837	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13055998	1.00[EUR][1000 genomes]
rs13056332	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13056990	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13057204	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13057580	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13057733	0.85[ASN][1000 genomes]
rs13057878	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1476514	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16988123	0.89[EUR][1000 genomes]
rs16988145	0.89[EUR][1000 genomes]
rs2010916	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2012308	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2106430	0.84[EUR][1000 genomes]
rs2106722	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2214047	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2412977	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2412979	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34391152	0.84[EUR][1000 genomes]
rs34420020	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34474867	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34545612	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35067150	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35361418	0.84[EUR][1000 genomes]
rs35539897	0.84[EUR][1000 genomes]
rs35710453	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36018230	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3788422	0.89[EUR][1000 genomes]
rs4820825	0.89[EUR][1000 genomes]
rs4820829	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4823064	0.89[EUR][1000 genomes]
rs4823067	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4823071	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4823082	0.84[EUR][1000 genomes]
rs5752976	0.89[EUR][1000 genomes]
rs5752997	0.89[EUR][1000 genomes]
rs5753002	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753007	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753013	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753014	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753015	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753019	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753020	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753022	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753027	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753028	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753029	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753030	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753046	0.84[EUR][1000 genomes]
rs5763566	0.89[EUR][1000 genomes]
rs5763569	0.89[EUR][1000 genomes]
rs5763585	0.89[EUR][1000 genomes]
rs5763601	0.89[EUR][1000 genomes]
rs5763602	0.89[EUR][1000 genomes]
rs5763604	0.89[EUR][1000 genomes]
rs5763606	0.89[EUR][1000 genomes]
rs5763609	0.89[EUR][1000 genomes]
rs5763629	0.89[EUR][1000 genomes]
rs5763637	0.89[EUR][1000 genomes]
rs5763648	0.89[EUR][1000 genomes]
rs5763662	0.89[EUR][1000 genomes]
rs5763681	0.89[EUR][1000 genomes]
rs5763687	0.89[EUR][1000 genomes]
rs5763695	0.89[EUR][1000 genomes]
rs5763701	1.00[EUR][1000 genomes]
rs5763734	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763742	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5763746	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5763748	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5763749	0.88[ASN][1000 genomes]
rs5763750	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763758	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763759	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763766	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763769	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763774	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763782	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763787	0.94[ASN][1000 genomes]
rs5763788	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5763801	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763805	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5763810	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5763825	0.94[ASN][1000 genomes]
rs5763852	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763854	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763861	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763872	0.84[EUR][1000 genomes]
rs71331220	0.89[EUR][1000 genomes]
rs718773	1.00[ASN][1000 genomes]
rs7286304	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7286681	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739616	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs757026	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs766011	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8138404	0.89[EUR][1000 genomes]
rs8142101	0.89[EUR][1000 genomes]
rs916807	0.81[EUR][1000 genomes]
rs975704	0.89[EUR][1000 genomes];0.91[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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13053765	LGALS8	trans	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30475800-30485400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:30483400-30485200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr22:30483400-30485200	Weak transcription	NHEK	skin
4	chr22:30483800-30493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:30484400-30486600	Enhancers	Dnd41	blood
6	chr22:30484800-30485400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:30484800-30485600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr22:30485000-30485400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr22:30485000-30485600	Active TSS	A549	lung
10	chr22:30485000-30486000	Enhancers	Liver	Liver

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