Variant report

Variant	rs7533783
Chromosome Location	chr1:85040535-85040536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:90)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:90 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr1:85039495-85040623	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:85039423-85040639	SK-N-MC	brain:	n/a	n/a
3	STAT1	chr1:85039505-85040537	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:85039219-85040574	K562	blood:	n/a	n/a
5	POLR2A	chr1:85038502-85041153	GM12892	blood:	n/a	n/a
6	EP300	chr1:85040237-85040698	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:85039426-85040564	K562	blood:	n/a	n/a
8	RCOR1	chr1:85039325-85040941	K562	blood:	n/a	n/a
9	POLR2A	chr1:85038487-85040555	K562	blood:	n/a	n/a
10	POLR2A	chr1:85038602-85040683	PBDE	blood:	n/a	n/a
11	RUNX3	chr1:85038628-85040607	GM12878	blood:	n/a	n/a
12	PML	chr1:85038658-85040567	K562	blood:	n/a	n/a
13	SPI1	chr1:85040277-85040666	HL-60	blood:	n/a	chr1:85040460-85040473
14	MYC	chr1:85039612-85040792	K562	blood:	n/a	n/a
15	TAL1	chr1:85040389-85040541	K562	blood:	n/a	n/a
16	MAZ	chr1:85038904-85040904	IMR90	lung:	n/a	n/a
17	PML	chr1:85038522-85040678	GM12878	blood:	n/a	n/a
18	YY1	chr1:85039705-85040612	GM12892	blood:	n/a	n/a
19	POLR2A	chr1:85038645-85041014	GM18505	blood:	n/a	n/a
20	POLR2A	chr1:85038529-85040564	GM12891	blood:	n/a	n/a
21	HEY1	chr1:85039453-85040552	K562	blood:	n/a	n/a
22	POLR2A	chr1:85038574-85040588	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr1:85040198-85040590	GM12878	blood:	n/a	n/a
24	MXI1	chr1:85039579-85040729	GM12878	blood:	n/a	n/a
25	EBF1	chr1:85039960-85040587	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:85038604-85040577	K562	blood:	n/a	n/a
27	RELA	chr1:85039373-85040857	GM15510	blood:	n/a	n/a
28	ZNF143	chr1:85039470-85040632	GM12878	blood:	n/a	n/a
29	POLR2A	chr1:85038609-85040790	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr1:85038702-85040888	Hela-S3	cervix:	n/a	n/a
31	YY1	chr1:85040208-85040564	GM12878	blood:	n/a	n/a
32	MAZ	chr1:85039602-85041019	K562	blood:	n/a	n/a
33	ATF2	chr1:85040158-85040541	GM12878	blood:	n/a	n/a
34	CHD1	chr1:85038679-85040538	GM12878	blood:	n/a	n/a
35	RUNX3	chr1:85039395-85040563	GM12878	blood:	n/a	n/a
36	SPI1	chr1:85040315-85040535	GM12878	blood:	n/a	chr1:85040460-85040473
37	SPI1	chr1:85040248-85040687	GM12891	blood:	n/a	chr1:85040460-85040473
38	POLR2A	chr1:85038546-85040554	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr1:85038540-85040585	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr1:85038506-85040630	GM12892	blood:	n/a	n/a
41	MAX	chr1:85039494-85040557	K562	blood:	n/a	n/a
42	MAX	chr1:85039398-85040549	ECC-1	luminal epithelium:	n/a	n/a
43	YY1	chr1:85040200-85040569	SK-N-SH_RA	brain:	n/a	n/a
44	RCOR1	chr1:85039671-85040767	K562	blood:	n/a	n/a
45	POLR2A	chr1:85038676-85040552	GM18526	blood:	n/a	n/a
46	POLR2A	chr1:85039362-85040542	Hela-S3	cervix:	n/a	n/a
47	MAX	chr1:85038543-85040709	NB4	blood:	n/a	n/a
48	POLR2A	chr1:85038566-85040779	GM19099	blood:	n/a	n/a
49	SPI1	chr1:85040246-85040693	HL-60	blood:	n/a	chr1:85040460-85040473
50	POLR2A	chr1:85038550-85041038	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:85040466..85042316-chr1:85099444..85102197,2	MCF-7	breast:
2	chr1:84966614..84978118-chr1:85034515..85041986,38	K562	blood:
3	chr1:84966967..84974535-chr1:85036439..85041823,24	K562	blood:
4	chr1:84943703..84948095-chr1:85037647..85043843,8	K562	blood:
5	chr1:85039736..85040735-chr9:128003564..128004223,2	Hela-S3	cervix:
6	chr1:84943714..84946459-chr1:85038706..85040687,2	K562	blood:
7	chr1:85039820..85040684-chr12:31476818..31477702,2	HCT-116	colon:
8	chr1:85038984..85041113-chr1:85155645..85157338,2	K562	blood:
9	chr1:85039843..85040683-chr12:53894216..53894768,2	HCT-116	colon:
10	chr1:85039718..85040687-chr2:99224792..99225429,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
CTBS	TF binding region
ENSG00000183513	Chromatin interaction
ENSG00000117133	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000139546	Chromatin interaction
ENSG00000174021	Chromatin interaction
ENSG00000044574	Chromatin interaction
ENSG00000270175	Chromatin interaction
ENSG00000139146	Chromatin interaction
ENSG00000117155	Chromatin interaction
ENSG00000180869	Chromatin interaction
ENSG00000115446	Chromatin interaction
ENSG00000177340	Chromatin interaction
ENSG00000239705	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1043493	1.00[ASN][1000 genomes]
rs11164009	0.83[EUR][1000 genomes]
rs1156435	1.00[ASN][1000 genomes]
rs11801891	1.00[ASN][1000 genomes]
rs11802781	1.00[ASN][1000 genomes]
rs11804372	1.00[ASN][1000 genomes]
rs12084159	0.88[EUR][1000 genomes]
rs17099163	1.00[ASN][1000 genomes]
rs17111299	1.00[ASN][1000 genomes]
rs17111308	1.00[ASN][1000 genomes]
rs17111314	1.00[ASN][1000 genomes]
rs17111351	1.00[ASN][1000 genomes]
rs17111464	1.00[ASN][1000 genomes]
rs17112191	1.00[ASN][1000 genomes]
rs17112247	1.00[ASN][1000 genomes]
rs17112268	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2138169	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2945136	0.80[EUR][1000 genomes]
rs57295979	1.00[ASN][1000 genomes]
rs57674741	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58537059	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59898877	1.00[ASN][1000 genomes]
rs61699375	1.00[ASN][1000 genomes]
rs6657708	0.89[AMR][1000 genomes]
rs6679620	0.88[EUR][1000 genomes]
rs6681870	0.83[EUR][1000 genomes]
rs6692607	0.81[EUR][1000 genomes]
rs72950323	1.00[ASN][1000 genomes]
rs72950341	1.00[ASN][1000 genomes]
rs7517918	1.00[ASN][1000 genomes]
rs7524406	1.00[ASN][1000 genomes]
rs7530632	1.00[ASN][1000 genomes]
rs7547026	0.81[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85037400-85041200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:85037800-85041200	Active TSS	GM12878-XiMat	blood
3	chr1:85038200-85041000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:85038400-85040600	Active TSS	Colonic Mucosa	Colon
5	chr1:85038400-85040800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:85038600-85040600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:85038600-85040600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:85038600-85040600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:85038600-85040600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:85038600-85040600	Flanking Active TSS	HUVEC	blood vessel
11	chr1:85038600-85040600	Active TSS	K562	blood
12	chr1:85038600-85040800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:85038600-85040800	Active TSS	Psoas Muscle	Psoas
14	chr1:85038600-85040800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr1:85038600-85041000	Active TSS	Fetal Kidney	kidney
16	chr1:85038800-85041000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:85039000-85040600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr1:85039000-85040600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:85039000-85040600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:85039000-85040600	Active TSS	Fetal Brain Male	brain
21	chr1:85039000-85040600	Active TSS	Right Ventricle	heart
22	chr1:85039000-85040600	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr1:85039000-85040600	Active TSS	NHLF	lung
24	chr1:85039000-85040800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:85039000-85040800	Active TSS	HSMMtube	muscle
26	chr1:85039200-85040600	Active TSS	Brain Substantia Nigra	brain
27	chr1:85039200-85040600	Active TSS	Fetal Intestine Small	intestine
28	chr1:85039200-85040600	Active TSS	Left Ventricle	heart
29	chr1:85039200-85040600	Active TSS	Lung	lung
30	chr1:85039200-85040600	Active TSS	Ovary	ovary
31	chr1:85039200-85040600	Active TSS	HSMM	muscle
32	chr1:85039200-85040800	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr1:85039200-85041000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr1:85039200-85041200	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr1:85039400-85040600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:85039400-85040600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:85039400-85040600	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr1:85039400-85040600	Active TSS	Brain Cingulate Gyrus	brain
39	chr1:85039400-85040600	Active TSS	Fetal Muscle Trunk	muscle
40	chr1:85039400-85040600	Active TSS	Placenta	Placenta
41	chr1:85039400-85040600	Bivalent/Poised TSS	HepG2	liver
42	chr1:85039400-85040600	Active TSS	NHDF-Ad	bronchial
43	chr1:85039400-85040800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:85039400-85040800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:85039400-85040800	Active TSS	Pancreas	Pancrea
46	chr1:85039400-85040800	Active TSS	A549	lung
47	chr1:85039400-85041000	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr1:85039400-85041000	Active TSS	Stomach Smooth Muscle	stomach
49	chr1:85039600-85040600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:85039600-85040600	Active TSS	Gastric	stomach

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