Variant report

Variant	rs11583524
Chromosome Location	chr1:152161657-152161658
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	CTCF	chr1:152161540-152161690	HAc	cerebellar:	n/a	n/a
2	ELF1	chr1:152161561-152161979	A549	lung:	n/a	chr1:152161780-152161791 chr1:152161781-152161790
3	GABPA	chr1:152161009-152162101	SK-N-SH	brain:	n/a	n/a
4	TAF1	chr1:152161454-152162007	A549	lung:	n/a	n/a
5	POLR2A	chr1:152161536-152161899	PANC-1	pancreas:	n/a	n/a
6	YY1	chr1:152161109-152161752	A549	lung:	n/a	n/a
7	POLR2A	chr1:152161525-152161994	A549	lung:	n/a	n/a
8	SETDB1	chr1:152161133-152162871	U2OS	brain:	n/a	n/a
9	POLR2A	chr1:152161163-152162004	A549	lung:	n/a	n/a
10	CTCF	chr1:152161560-152161710	SAEC	small airway:	n/a	n/a
11	MAX	chr1:152160938-152162843	A549	lung:	n/a	chr1:152162503-152162510 chr1:152162500-152162510
12	CTCF	chr1:152161540-152161690	HMEC	breast:	n/a	n/a
13	GABPA	chr1:152161491-152162108	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr1:152161645-152161926	ProgFib	skin:	n/a	n/a
15	REST	chr1:152161422-152162293	A549	lung:	n/a	chr1:152161497-152161510
16	MAX	chr1:152161014-152162727	A549	lung:	n/a	chr1:152162503-152162510 chr1:152162500-152162510
17	CTCF	chr1:152161560-152161710	HPF	lung:	n/a	n/a
18	ELF1	chr1:152161116-152162065	GM12878	blood:	n/a	chr1:152161780-152161791 chr1:152161781-152161790
19	POLR2A	chr1:152161241-152161940	A549	lung:	n/a	n/a
20	CTCF	chr1:152160886-152161743	SK-N-SH	brain:	n/a	chr1:152161238-152161256 chr1:152161241-152161254 chr1:152161243-152161253 chr1:152161239-152161255 chr1:152161240-152161261 chr1:152161241-152161254 chr1:152161241-152161250
21	SIN3AK20	chr1:152161164-152161886	PANC-1	pancreas:	n/a	n/a
22	TCF12	chr1:152160933-152162220	A549	lung:	n/a	chr1:152161238-152161248
23	POLR2A	chr1:152161548-152161947	A549	lung:	n/a	n/a
24	GATA3	chr1:152161198-152161941	MCF-7	breast:	n/a	n/a
25	POLR2A	chr1:152161578-152161926	A549	lung:	n/a	n/a
26	GABPA	chr1:152161071-152162255	A549	lung:	n/a	n/a
27	GABPA	chr1:152161084-152162625	A549	lung:	n/a	n/a
28	MAX	chr1:152161550-152162042	A549	lung:	n/a	n/a
29	CTCF	chr1:152160805-152163458	A549	lung:	n/a	chr1:152161238-152161256 chr1:152161241-152161254 chr1:152161243-152161253 chr1:152161239-152161255 chr1:152161240-152161261 chr1:152161241-152161254 chr1:152162484-152162497 chr1:152161241-152161250 chr1:152162481-152162499 chr1:152162483-152162504 chr1:152162321-152162329 chr1:152162484-152162492
30	E2F6	chr1:152161112-152162431	A549	lung:	n/a	n/a
31	E2F6	chr1:152161461-152162034	A549	lung:	n/a	n/a
32	POLR2A	chr1:152161536-152161982	PANC-1	pancreas:	n/a	n/a
33	ETS1	chr1:152161339-152161836	A549	lung:	n/a	chr1:152161778-152161788 chr1:152161772-152161789 chr1:152161757-152161767 chr1:152161780-152161789 chr1:152161778-152161789 chr1:152161780-152161789
34	CREB1	chr1:152161498-152161928	A549	lung:	n/a	n/a
35	MAX	chr1:152161598-152161673	GM12878	blood:	n/a	n/a
36	CTCF	chr1:152161580-152161730	GM12870	blood:	n/a	n/a
37	SIX5	chr1:152161601-152161884	A549	lung:	n/a	n/a
38	ELF1	chr1:152161490-152161947	A549	lung:	n/a	chr1:152161780-152161791 chr1:152161781-152161790
39	CTCF	chr1:152161620-152161770	GM12875	blood:	n/a	n/a
40	ZNF263	chr1:152161207-152161665	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:152025124..152025656-chr1:152161097..152161675,2	MCF-7	breast:
2	chr1:152161168..152161696-chr3:64015970..64016664,2	MCF-7	breast:
3	chr1:152160950..152161743-chr1:152199424..152200319,5	MCF-7	breast:
4	chr1:152161041..152161774-chr1:152423855..152424586,2	MCF-7	breast:
5	chr1:152160815..152161721-chr1:152320660..152321540,3	MCF-7	breast:
6	chr1:152160802..152161752-chr1:152430569..152431282,4	MCF-7	breast:
7	chr1:152024690..152025212-chr1:152160729..152161691,2	MCF-7	breast:
8	chr1:152023608..152024485-chr1:152160789..152161681,3	MCF-7	breast:

Variant related genes	Relation type
FLG-AS1	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10749669	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10749670	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs10788824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10788827	0.84[ASN][1000 genomes]
rs10788828	0.82[EUR][1000 genomes]
rs10888466	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10888467	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10888468	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10888470	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs10888471	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs10888473	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11204933	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11204937	0.82[EUR][1000 genomes]
rs11204938	0.82[EUR][1000 genomes]
rs11204939	0.81[EUR][1000 genomes]
rs11204947	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11204948	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11204949	0.86[CHB][hapmap]
rs11204978	0.92[CEU][hapmap];0.86[CHB][hapmap]
rs11204980	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11204981	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs11584340	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11584427	0.93[CEU][hapmap];0.87[CHB][hapmap]
rs11586114	0.93[CEU][hapmap];0.87[CHB][hapmap]
rs11587676	0.93[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes]
rs11588174	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11589532	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11590365	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12047544	0.82[ASN][1000 genomes]
rs12063165	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12116736	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12117911	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12144058	0.81[ASN][1000 genomes]
rs12405278	0.86[CHB][hapmap]
rs12409762	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12567463	0.86[EUR][1000 genomes]
rs12748016	0.81[EUR][1000 genomes]
rs12749966	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1353436	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1390485	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1390487	0.82[EUR][1000 genomes]
rs1390488	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs1390490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1496045	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs1496049	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496050	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1496051	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1552992	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1552993	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1552995	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1552996	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1858480	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs1858482	0.93[CEU][hapmap];0.86[CHB][hapmap]
rs2065955	0.93[CEU][hapmap]
rs2184953	0.87[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs2291770	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2338431	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2338555	0.93[CEU][hapmap];0.88[CHB][hapmap]
rs3120659	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap]
rs3126066	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs3126085	0.86[CEU][hapmap];0.86[CHB][hapmap]
rs3126088	0.93[CEU][hapmap];0.86[CHB][hapmap]
rs3126091	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs4415568	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4421596	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4456098	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4845421	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4845423	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs4845426	0.81[EUR][1000 genomes]
rs4845733	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845734	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4845736	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4845737	0.84[JPT][hapmap]
rs4845740	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4845741	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4845742	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4845744	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4845745	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4845750	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs55982921	0.81[AMR][1000 genomes]
rs6587647	0.82[EUR][1000 genomes]
rs6587651	0.82[EUR][1000 genomes]
rs6587652	0.82[EUR][1000 genomes]
rs6587666	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs6662450	0.82[EUR][1000 genomes]
rs6666382	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs74127901	0.81[EUR][1000 genomes]
rs7520249	0.82[EUR][1000 genomes]
rs7531094	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7533529	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7534716	0.81[EUR][1000 genomes]
rs7535536	0.82[EUR][1000 genomes]
rs7550106	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs868303	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs868304	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs877776	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv872442	chr1:152054120-152187641	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv547854	chr1:152145661-152165878	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11583524	FLG	cis	Thyroid	GTEx
rs11583524	FLG-AS1	cis	Thyroid	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152160600-152162000	Weak transcription	Hela-S3	cervix
2	chr1:152161000-152162000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:152161000-152162200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:152161000-152162200	Active TSS	Primary T cells from cord blood	blood
5	chr1:152161000-152162200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:152161000-152162200	Active TSS	Right Ventricle	heart
7	chr1:152161000-152162600	Active TSS	Stomach Smooth Muscle	stomach
8	chr1:152161200-152161800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr1:152161200-152161800	Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr1:152161200-152161800	Active TSS	Colonic Mucosa	Colon
11	chr1:152161200-152161800	Enhancers	Fetal Brain Male	brain
12	chr1:152161200-152161800	Flanking Bivalent TSS/Enh	Placenta	Placenta
13	chr1:152161200-152161800	Active TSS	Pancreas	Pancrea
14	chr1:152161200-152161800	Active TSS	NHEK	skin
15	chr1:152161200-152162000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:152161200-152162000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:152161200-152162000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
18	chr1:152161200-152162000	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
19	chr1:152161200-152162000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
20	chr1:152161200-152162000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr1:152161200-152162000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:152161200-152162000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:152161200-152162000	Active TSS	Muscle Satellite Cultured Cells	--
24	chr1:152161200-152162000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:152161200-152162000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:152161200-152162000	Active TSS	Aorta	Aorta
27	chr1:152161200-152162000	Active TSS	Esophagus	oesophagus
28	chr1:152161200-152162000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr1:152161200-152162000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
30	chr1:152161200-152162000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
31	chr1:152161200-152162000	Flanking Active TSS	Lung	lung
32	chr1:152161200-152162000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
33	chr1:152161200-152162000	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr1:152161200-152162000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
35	chr1:152161200-152162200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr1:152161200-152162200	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr1:152161200-152162200	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr1:152161200-152162200	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr1:152161200-152162200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:152161200-152162200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:152161200-152162200	Active TSS	Brain Substantia Nigra	brain
42	chr1:152161200-152162200	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr1:152161200-152162200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
44	chr1:152161200-152162200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr1:152161200-152162200	Active TSS	Left Ventricle	heart
46	chr1:152161200-152162200	Active TSS	Ovary	ovary
47	chr1:152161200-152162200	Active TSS	Placenta Amnion	Placenta Amnion
48	chr1:152161200-152162200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
49	chr1:152161200-152162200	Active TSS	GM12878-XiMat	blood
50	chr1:152161200-152162200	Active TSS	HSMM	muscle

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