Variant report

Variant	rs73124889
Chromosome Location	chr1:222883011-222883012
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	EP300	chr1:222882982-222883648	K562	blood:	n/a	n/a
2	ELF1	chr1:222882883-222883517	K562	blood:	n/a	n/a
3	ZNF274	chr1:222883005-222883731	K562	blood:	n/a	n/a
4	GATA2	chr1:222882956-222883521	K562	blood:	n/a	chr1:222883269-222883277
5	CEBPB	chr1:222882985-222883277	IMR90	lung:	n/a	n/a
6	POLR2A	chr1:222882950-222883496	K562	blood:	n/a	n/a
7	CUX1	chr1:222882938-222883943	K562	blood:	n/a	n/a
8	PML	chr1:222882957-222883634	K562	blood:	n/a	n/a
9	STAT3	chr1:222882921-222883159	MCF10A-Er-Src	breast:	n/a	chr1:222883057-222883068
10	NR2F2	chr1:222882792-222883970	K562	blood:	n/a	n/a
11	RCOR1	chr1:222882969-222883854	K562	blood:	n/a	n/a
12	CEBPB	chr1:222882924-222883473	K562	blood:	n/a	n/a
13	CEBPB	chr1:222882998-222883192	K562	blood:	n/a	n/a
14	TEAD4	chr1:222882801-222883853	K562	blood:	n/a	n/a
15	TRIM28	chr1:222882997-222883541	K562	blood:	n/a	n/a
16	CCNT2	chr1:222882948-222883484	K562	blood:	n/a	n/a
17	GATA1	chr1:222882911-222883703	PBDE	blood:	n/a	chr1:222883269-222883277
18	CBX3	chr1:222882896-222883746	K562	blood:	n/a	n/a
19	TEAD4	chr1:222882877-222883664	K562	blood:	n/a	n/a
20	STAT5A	chr1:222882955-222883577	K562	blood:	n/a	n/a
21	STAT3	chr1:222882984-222883158	MCF10A-Er-Src	breast:	n/a	chr1:222883057-222883068
22	ARID3A	chr1:222882981-222883605	K562	blood:	n/a	n/a
23	CEBPD	chr1:222882934-222883633	K562	blood:	n/a	n/a
24	MAFF	chr1:222882950-222883857	K562	blood:	n/a	n/a
25	IRF1	chr1:222882941-222883439	K562	blood:	n/a	n/a
26	GATA1	chr1:222882747-222884443	K562	blood:	n/a	chr1:222883269-222883277 chr1:222883982-222883991 chr1:222883978-222883994
27	BACH1	chr1:222882917-222883609	K562	blood:	n/a	n/a
28	PML	chr1:222882836-222883531	K562	blood:	n/a	n/a
29	TAL1	chr1:222882943-222883713	K562	blood:	n/a	n/a
30	CEBPB	chr1:222882872-222883558	K562	blood:	n/a	n/a

Variant related genes	Relation type
RN7SL276P	TF binding region
BROX	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1986348	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291833	0.80[ASN][1000 genomes]
rs2936019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2936024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2936025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2936026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2936056	0.83[EUR][1000 genomes]
rs2936057	0.83[EUR][1000 genomes]
rs3002137	0.83[EUR][1000 genomes]
rs3002138	0.83[EUR][1000 genomes]
rs3002140	0.83[EUR][1000 genomes]
rs3002150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3008599	0.83[EUR][1000 genomes]
rs3008600	0.83[EUR][1000 genomes]
rs3008603	0.83[EUR][1000 genomes]
rs3008605	0.83[EUR][1000 genomes]
rs3008611	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3008613	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3008624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3008627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3008628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3008632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3008635	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3008639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34290674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34851033	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4379681	0.83[EUR][1000 genomes]
rs73124815	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73124822	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73124862	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73124880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126803	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73126825	0.81[ASN][1000 genomes]
rs7520650	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222835200-222884600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:222839000-222884600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:222839600-222884600	Weak transcription	Esophagus	oesophagus
4	chr1:222840000-222884600	Weak transcription	Colonic Mucosa	Colon
5	chr1:222841200-222883400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:222841400-222883200	Weak transcription	Fetal Heart	heart
7	chr1:222845000-222884600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:222849400-222883200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:222852400-222883800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:222855200-222884600	Weak transcription	Pancreas	Pancrea
11	chr1:222855600-222883800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:222860000-222884600	Weak transcription	Left Ventricle	heart
13	chr1:222860200-222883200	Weak transcription	Brain Anterior Caudate	brain
14	chr1:222860200-222883600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:222860200-222883800	Weak transcription	Fetal Kidney	kidney
16	chr1:222860200-222884000	Weak transcription	Brain Angular Gyrus	brain
17	chr1:222860200-222884200	Weak transcription	Brain Substantia Nigra	brain
18	chr1:222860200-222884400	Weak transcription	Placenta	Placenta
19	chr1:222860200-222884600	Weak transcription	Aorta	Aorta
20	chr1:222860200-222884600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:222860200-222884600	Weak transcription	Gastric	stomach
22	chr1:222860200-222884600	Weak transcription	Lung	lung
23	chr1:222860600-222884200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:222861000-222885000	Weak transcription	Spleen	Spleen
25	chr1:222866800-222883800	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:222869400-222883200	Weak transcription	GM12878-XiMat	blood
27	chr1:222873600-222883200	Weak transcription	Brain Germinal Matrix	brain
28	chr1:222873800-222883200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:222873800-222884600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:222874000-222883400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:222874000-222884600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:222874600-222883600	Weak transcription	Fetal Stomach	stomach
33	chr1:222874800-222883600	Weak transcription	Thymus	Thymus
34	chr1:222875200-222883200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:222876200-222883200	Weak transcription	Stomach Mucosa	stomach
36	chr1:222876200-222883400	Weak transcription	Liver	Liver
37	chr1:222876200-222883600	Weak transcription	Fetal Intestine Large	intestine
38	chr1:222876200-222883800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:222876200-222884000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:222876200-222884200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:222876200-222884400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:222876400-222883200	Weak transcription	Fetal Intestine Small	intestine
43	chr1:222876400-222883200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:222876400-222883200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:222876400-222883200	Weak transcription	HMEC	breast
46	chr1:222876400-222883200	Weak transcription	NH-A	brain
47	chr1:222876400-222883200	Weak transcription	Osteobl	bone
48	chr1:222876400-222883400	Weak transcription	NHEK	skin
49	chr1:222876400-222883600	Weak transcription	Fetal Thymus	thymus
50	chr1:222876400-222883800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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