Variant report

Variant	rs7524087
Chromosome Location	chr1:212643660-212643661
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	USF1	chr1:212643401-212643772	ECC-1	luminal epithelium:	n/a	n/a
2	JUND	chr1:212643300-212643791	A549	lung:	n/a	chr1:212643599-212643611 chr1:212643601-212643609
3	STAT3	chr1:212643413-212643838	MCF10A-Er-Src	breast:	n/a	chr1:212643671-212643682
4	REST	chr1:212643458-212643713	SK-N-SH	brain:	n/a	n/a
5	JUND	chr1:212643287-212643863	SK-N-SH	brain:	n/a	chr1:212643599-212643611 chr1:212643601-212643609
6	STAT3	chr1:212643460-212643893	MCF10A-Er-Src	breast:	n/a	chr1:212643671-212643682
7	POLR2A	chr1:212643450-212643775	MCF10A-Er-Src	breast:	n/a	n/a
8	MAX	chr1:212643162-212643960	HCT-116	colon:	n/a	chr1:212643853-212643862
9	MAX	chr1:212643103-212643943	HCT-116	colon:	n/a	chr1:212643853-212643862
10	USF2	chr1:212643498-212643704	Hela-S3	cervix:	n/a	chr1:212643625-212643636
11	USF1	chr1:212643415-212643725	SK-N-SH_RA	brain:	n/a	n/a
12	FOSL2	chr1:212643271-212643912	SK-N-SH	brain:	n/a	chr1:212643599-212643611 chr1:212643601-212643609
13	STAT3	chr1:212643372-212643847	MCF10A-Er-Src	breast:	n/a	chr1:212643671-212643682
14	STAT3	chr1:212643389-212643845	MCF10A-Er-Src	breast:	n/a	chr1:212643671-212643682
15	POLR2A	chr1:212643366-212643878	IMR90	lung:	n/a	n/a
16	FOS	chr1:212643357-212643779	MCF10A-Er-Src	breast:	n/a	chr1:212643599-212643611 chr1:212643601-212643609
17	POLR2A	chr1:212643227-212643932	U87	brain:	n/a	n/a
18	CREB1	chr1:212643348-212643818	A549	lung:	n/a	n/a
19	FOS	chr1:212643367-212643790	MCF10A-Er-Src	breast:	n/a	chr1:212643599-212643611 chr1:212643601-212643609
20	USF1	chr1:212643412-212643732	A549	lung:	n/a	n/a
21	MAX	chr1:212643268-212643914	SK-N-SH	brain:	n/a	chr1:212643853-212643862
22	MAX	chr1:212643294-212643896	SK-N-SH	brain:	n/a	chr1:212643853-212643862
23	RAD21	chr1:212643322-212643795	IMR90	lung:	n/a	n/a
24	MAFK	chr1:212643459-212643793	IMR90	lung:	n/a	n/a
25	SIN3AK20	chr1:212643298-212643708	SK-N-SH	brain:	n/a	n/a
26	MAX	chr1:212643289-212643875	A549	lung:	n/a	chr1:212643853-212643862
27	USF1	chr1:212643435-212643765	A549	lung:	n/a	n/a
28	MAX	chr1:212643256-212643922	A549	lung:	n/a	chr1:212643853-212643862
29	MAX	chr1:212643208-212643863	ECC-1	luminal epithelium:	n/a	chr1:212643853-212643862
30	USF1	chr1:212643407-212643737	SK-N-SH_RA	brain:	n/a	n/a
31	MYC	chr1:212643355-212643853	MCF10A-Er-Src	breast:	n/a	n/a
32	MAZ	chr1:212643125-212643991	IMR90	lung:	n/a	chr1:212643853-212643862
33	FOSL2	chr1:212643280-212643828	SK-N-SH	brain:	n/a	chr1:212643599-212643611 chr1:212643601-212643609
34	E2F4	chr1:212643477-212643723	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr1:212643353-212643841	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr1:212643276-212643812	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr1:212643336-212643836	MCF10A-Er-Src	breast:	n/a	chr1:212643599-212643611 chr1:212643601-212643609
38	POLR2A	chr1:212643283-212643793	U87	brain:	n/a	n/a
39	MAX	chr1:212643315-212643670	K562	blood:	n/a	n/a
40	POLR2A	chr1:212643352-212643703	HCT-116	colon:	n/a	n/a
41	USF1	chr1:212643324-212643776	A549	lung:	n/a	n/a
42	USF1	chr1:212643462-212643708	A549	lung:	n/a	n/a
43	NFIC	chr1:212643279-212643922	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr1:212643227-212643938	U87	brain:	n/a	n/a
45	MAX	chr1:212643276-212643793	ECC-1	luminal epithelium:	n/a	n/a
46	MXI1	chr1:212643122-212644232	IMR90	lung:	n/a	n/a
47	FOSL2	chr1:212643134-212643862	A549	lung:	n/a	chr1:212643599-212643611 chr1:212643601-212643609
48	USF1	chr1:212643387-212643798	A549	lung:	n/a	n/a
49	FOS	chr1:212643339-212643807	MCF10A-Er-Src	breast:	n/a	chr1:212643599-212643611 chr1:212643601-212643609
50	MAX	chr1:212643406-212643722	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:212641004..212645017-chr1:212780879..212784098,6	K562	blood:
2	chr1:212636838..212639720-chr1:212643460..212645324,2	K562	blood:
3	chr1:212642565..212644909-chr1:212645772..212647720,2	K562	blood:

Variant related genes	Relation type
ENSG00000224535	TF binding region
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10157307	1.00[ASN][1000 genomes]
rs10158476	1.00[ASN][1000 genomes]
rs10158543	1.00[ASN][1000 genomes]
rs11119889	1.00[ASN][1000 genomes]
rs11119896	1.00[ASN][1000 genomes]
rs11119905	1.00[ASN][1000 genomes]
rs11119914	1.00[ASN][1000 genomes]
rs11119915	1.00[ASN][1000 genomes]
rs11804839	1.00[ASN][1000 genomes]
rs11811628	1.00[ASN][1000 genomes]
rs12062234	1.00[ASN][1000 genomes]
rs12067814	1.00[ASN][1000 genomes]
rs12069850	1.00[ASN][1000 genomes]
rs12073991	1.00[ASN][1000 genomes]
rs12076639	1.00[ASN][1000 genomes]
rs12087923	1.00[ASN][1000 genomes]
rs12738431	1.00[ASN][1000 genomes]
rs12739468	1.00[ASN][1000 genomes]
rs13374814	1.00[ASN][1000 genomes]
rs17018845	1.00[ASN][1000 genomes]
rs17019384	1.00[ASN][1000 genomes]
rs17042040	1.00[ASN][1000 genomes]
rs28526731	1.00[ASN][1000 genomes]
rs34004542	1.00[ASN][1000 genomes]
rs351394	1.00[ASN][1000 genomes]
rs351396	1.00[ASN][1000 genomes]
rs351399	1.00[ASN][1000 genomes]
rs351402	1.00[ASN][1000 genomes]
rs35432717	1.00[ASN][1000 genomes]
rs36061296	1.00[ASN][1000 genomes]
rs376547	1.00[ASN][1000 genomes]
rs404987	1.00[ASN][1000 genomes]
rs411278	1.00[ASN][1000 genomes]
rs41314256	1.00[ASN][1000 genomes]
rs56862824	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57056017	1.00[ASN][1000 genomes]
rs57377970	1.00[ASN][1000 genomes]
rs57737965	1.00[ASN][1000 genomes]
rs57847431	1.00[ASN][1000 genomes]
rs58338531	1.00[ASN][1000 genomes]
rs58752775	1.00[ASN][1000 genomes]
rs58876418	1.00[ASN][1000 genomes]
rs59261419	1.00[ASN][1000 genomes]
rs59344104	1.00[ASN][1000 genomes]
rs59408650	1.00[ASN][1000 genomes]
rs60399349	1.00[ASN][1000 genomes]
rs60521851	1.00[ASN][1000 genomes]
rs61450816	1.00[ASN][1000 genomes]
rs61526449	1.00[ASN][1000 genomes]
rs66522154	1.00[ASN][1000 genomes]
rs66534834	1.00[ASN][1000 genomes]
rs6658490	1.00[ASN][1000 genomes]
rs66611603	1.00[ASN][1000 genomes]
rs6666970	1.00[ASN][1000 genomes]
rs6694503	1.00[ASN][1000 genomes]
rs6697091	1.00[ASN][1000 genomes]
rs66987133	1.00[ASN][1000 genomes]
rs67053561	1.00[ASN][1000 genomes]
rs67410757	1.00[ASN][1000 genomes]
rs67529467	1.00[ASN][1000 genomes]
rs67770348	1.00[ASN][1000 genomes]
rs67947916	1.00[ASN][1000 genomes]
rs68028120	1.00[ASN][1000 genomes]
rs68047079	1.00[ASN][1000 genomes]
rs72752361	1.00[ASN][1000 genomes]
rs72752367	1.00[ASN][1000 genomes]
rs72752370	1.00[ASN][1000 genomes]
rs72752373	1.00[ASN][1000 genomes]
rs72752376	1.00[ASN][1000 genomes]
rs72752377	1.00[ASN][1000 genomes]
rs72752384	1.00[ASN][1000 genomes]
rs72752391	1.00[ASN][1000 genomes]
rs72752396	1.00[ASN][1000 genomes]
rs72754304	1.00[ASN][1000 genomes]
rs72754308	1.00[ASN][1000 genomes]
rs72754311	1.00[ASN][1000 genomes]
rs72754313	1.00[ASN][1000 genomes]
rs72754324	1.00[ASN][1000 genomes]
rs72754335	1.00[ASN][1000 genomes]
rs72754344	1.00[ASN][1000 genomes]
rs72754346	1.00[ASN][1000 genomes]
rs72754358	1.00[ASN][1000 genomes]
rs72754374	1.00[ASN][1000 genomes]
rs72754375	1.00[ASN][1000 genomes]
rs72754384	1.00[ASN][1000 genomes]
rs72756307	1.00[ASN][1000 genomes]
rs72756315	1.00[ASN][1000 genomes]
rs72756328	1.00[ASN][1000 genomes]
rs72756330	1.00[ASN][1000 genomes]
rs72756331	1.00[ASN][1000 genomes]
rs72756332	1.00[ASN][1000 genomes]
rs72756334	1.00[ASN][1000 genomes]
rs72756335	1.00[ASN][1000 genomes]
rs72756337	1.00[ASN][1000 genomes]
rs72756339	1.00[ASN][1000 genomes]
rs72756341	1.00[ASN][1000 genomes]
rs72756342	1.00[ASN][1000 genomes]
rs72756347	1.00[ASN][1000 genomes]
rs72756348	1.00[ASN][1000 genomes]
rs73073999	1.00[ASN][1000 genomes]
rs73088569	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74138382	1.00[ASN][1000 genomes]
rs7512515	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7513727	1.00[ASN][1000 genomes]
rs7523303	1.00[ASN][1000 genomes]
rs7526983	1.00[ASN][1000 genomes]
rs7527666	1.00[ASN][1000 genomes]
rs7538428	1.00[ASN][1000 genomes]
rs7544944	1.00[ASN][1000 genomes]
rs7549717	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers 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	45 gene(s)	inside rSNPs	diseases
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
7	nsv873156	chr1:212585092-212646225	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv873158	chr1:212610755-212646225	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv873159	chr1:212610755-212669475	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv873160	chr1:212610755-212675482	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv873161	chr1:212610755-212683565	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv873163	chr1:212629935-212669475	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212636800-212644400	Enhancers	Placenta	Placenta
2	chr1:212637600-212644800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:212641000-212650400	Weak transcription	Fetal Intestine Large	intestine
4	chr1:212641600-212658200	Weak transcription	Gastric	stomach
5	chr1:212641800-212655200	Weak transcription	Right Atrium	heart
6	chr1:212642400-212644200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:212642600-212644200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:212642600-212644200	Enhancers	Brain Anterior Caudate	brain
9	chr1:212642800-212644200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:212642800-212644200	Enhancers	NHEK	skin
11	chr1:212643000-212644200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:212643000-212644200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:212643000-212644200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:212643200-212643800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr1:212643200-212643800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:212643200-212643800	Enhancers	Fetal Brain Male	brain
17	chr1:212643200-212643800	Enhancers	Left Ventricle	heart
18	chr1:212643200-212643800	Enhancers	Right Ventricle	heart
19	chr1:212643200-212643800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr1:212643200-212644000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:212643200-212644000	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr1:212643200-212644000	Enhancers	Fetal Muscle Leg	muscle
23	chr1:212643200-212644000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr1:212643200-212644000	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr1:212643200-212644200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:212643200-212644200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:212643200-212644200	Enhancers	Brain Angular Gyrus	brain
28	chr1:212643200-212644200	Enhancers	Esophagus	oesophagus
29	chr1:212643200-212644200	Enhancers	Ovary	ovary
30	chr1:212643200-212644200	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr1:212643200-212644200	Enhancers	Stomach Mucosa	stomach
32	chr1:212643200-212644200	Enhancers	HMEC	breast
33	chr1:212643200-212644200	Enhancers	NH-A	brain
34	chr1:212643200-212644400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:212643400-212643800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:212643400-212643800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:212643400-212643800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:212643400-212643800	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr1:212643400-212643800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:212643400-212643800	Enhancers	Psoas Muscle	Psoas
41	chr1:212643400-212643800	Flanking Active TSS	A549	lung
42	chr1:212643400-212643800	Flanking Active TSS	Hela-S3	cervix
43	chr1:212643400-212643800	Flanking Active TSS	NHLF	lung
44	chr1:212643400-212644200	Enhancers	Spleen	Spleen
45	chr1:212643600-212643800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:212643600-212643800	Enhancers	Brain Hippocampus Middle	brain
47	chr1:212643600-212643800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr1:212643600-212643800	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr1:212643600-212643800	Active TSS	HSMM	muscle
50	chr1:212643600-212644000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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