Variant report

Variant	rs73324412
Chromosome Location	chr17:45401055-45401056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:440)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP4	chr17:45400936-45401794	H1-hESC	embryonic stem cell:	n/a	chr17:45401272-45401283
2	CTCF	chr17:45401000-45401150	GM12878	blood:	n/a	n/a
3	REST	chr17:45401028-45401452	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr17:45401020-45401170	GM12866	blood:	n/a	n/a
5	POLR2A	chr17:45401001-45402489	GM12891	blood:	n/a	n/a
6	CREB1	chr17:45400695-45401811	HepG2	liver:	n/a	n/a
7	ZBTB7A	chr17:45400618-45401619	K562	blood:	n/a	n/a
8	MAX	chr17:45400728-45402386	A549	lung:	n/a	n/a
9	JUND	chr17:45400812-45401795	A549	lung:	n/a	n/a
10	TEAD4	chr17:45400690-45401520	ECC-1	luminal epithelium:	n/a	n/a
11	GTF2F1	chr17:45401016-45401862	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr17:45400836-45402132	IMR90	lung:	n/a	n/a
13	E2F4	chr17:45400687-45401746	MCF10A-Er-Src	breast:	n/a	n/a
14	SRF	chr17:45400963-45401176	GM12878	blood:	n/a	n/a
15	ELF1	chr17:45400794-45401880	GM12878	blood:	n/a	n/a
16	SIN3AK20	chr17:45400775-45401661	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr17:45400796-45401741	SK-N-MC	brain:	n/a	n/a
18	MAZ	chr17:45400985-45401901	GM12878	blood:	n/a	n/a
19	MBD4	chr17:45400715-45401772	HepG2	liver:	n/a	n/a
20	MAX	chr17:45400621-45401904	HepG2	liver:	n/a	n/a
21	CTCF	chr17:45401040-45401190	AoAF	blood vessel:	n/a	n/a
22	SETDB1	chr17:45400772-45401848	K562	blood:	n/a	n/a
23	MXI1	chr17:45400898-45401685	HepG2	liver:	n/a	n/a
24	RUNX3	chr17:45400741-45402563	GM12878	blood:	n/a	n/a
25	CTCF	chr17:45401034-45401248	GM12891	blood:	n/a	n/a
26	POLR2A	chr17:45400709-45401762	K562	blood:	n/a	n/a
27	POLR2A	chr17:45400792-45401911	A549	lung:	n/a	n/a
28	USF1	chr17:45400913-45401527	K562	blood:	n/a	chr17:45401293-45401304
29	USF1	chr17:45401025-45401589	SK-N-SH_RA	brain:	n/a	chr17:45401293-45401304
30	MAX	chr17:45400614-45402098	H1-hESC	embryonic stem cell:	n/a	n/a
31	PBX3	chr17:45400790-45402129	A549	lung:	n/a	n/a
32	POLR2A	chr17:45400465-45402245	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr17:45400858-45402457	GM12892	blood:	n/a	n/a
34	NFIC	chr17:45400672-45402561	GM12878	blood:	n/a	n/a
35	CTCF	chr17:45401040-45401190	HL-60	blood:	n/a	n/a
36	MYC	chr17:45400601-45401700	K562	blood:	n/a	n/a
37	USF1	chr17:45400615-45401849	ECC-1	luminal epithelium:	n/a	chr17:45401293-45401304
38	TAF1	chr17:45400989-45401439	SK-N-SH	brain:	n/a	n/a
39	NR2F2	chr17:45400860-45401261	K562	blood:	n/a	n/a
40	POLR2A	chr17:45400857-45401914	A549	lung:	n/a	n/a
41	ELF1	chr17:45400982-45401546	K562	blood:	n/a	n/a
42	CHD2	chr17:45400846-45401729	K562	blood:	n/a	n/a
43	RCOR1	chr17:45400712-45401747	K562	blood:	n/a	n/a
44	RCOR1	chr17:45400911-45401551	HepG2	liver:	n/a	n/a
45	MXI1	chr17:45400566-45402311	GM12878	blood:	n/a	n/a
46	CTCF	chr17:45401040-45401190	GM12875	blood:	n/a	n/a
47	CHD2	chr17:45400833-45401545	Hela-S3	cervix:	n/a	n/a
48	MAX	chr17:45400671-45402245	ECC-1	luminal epithelium:	n/a	n/a
49	YY1	chr17:45400688-45402455	GM12878	blood:	n/a	n/a
50	SIX5	chr17:45400717-45402397	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45334238..45336850-chr17:45399681..45401766,2	K562	blood:
2	chr17:45234199..45236994-chr17:45399820..45401734,2	MCF-7	breast:
3	chr17:45399600..45403116-chr17:45404916..45409576,7	K562	blood:
4	chr17:45143352..45144907-chr17:45399301..45401186,2	K562	blood:
5	chr17:45400573..45401426-chr9:116172200..116173194,2	Hela-S3	cervix:
6	chr17:45143352..45146051-chr17:45399301..45401762,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC040934.1-2	chr17:45400564-45401497	ENSG00000247683
2	lnc-AC040934.1-2	chr17:45400724-45401156	NONHSAT054295

No data

Variant related genes	Relation type
ENSG00000263293	TF binding region
EFCAB13	TF binding region
ENSG00000004897	Chromatin interaction
ENSG00000238419	Chromatin interaction
ENSG00000148229	Chromatin interaction
ENSG00000262879	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000178852	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11649785	0.81[ASN][1000 genomes]
rs16941768	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3744453	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55693255	0.83[ASN][1000 genomes]
rs55846810	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55853213	0.83[ASN][1000 genomes]
rs56187467	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56194063	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56225350	0.80[ASN][1000 genomes]
rs57517411	0.83[ASN][1000 genomes]
rs57711420	0.88[ASN][1000 genomes]
rs58365772	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58568239	0.88[ASN][1000 genomes]
rs58611856	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58847127	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58875262	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7217214	0.81[ASN][1000 genomes]
rs72825640	0.88[ASN][1000 genomes]
rs72825642	0.88[ASN][1000 genomes]
rs72825645	0.88[ASN][1000 genomes]
rs72825648	0.88[ASN][1000 genomes]
rs72825658	0.84[ASN][1000 genomes]
rs72825663	0.83[ASN][1000 genomes]
rs72825665	0.83[ASN][1000 genomes]
rs72825685	0.83[ASN][1000 genomes]
rs72829614	0.83[ASN][1000 genomes]
rs8077042	0.86[ASN][1000 genomes]
rs951351	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs988684	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv962445	chr17:45397004-45428018	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45400000-45402400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:45400200-45401600	Active TSS	K562	blood
3	chr17:45400400-45401400	Active TSS	Adipose Nuclei	Adipose
4	chr17:45400400-45401400	Active TSS	GM12878-XiMat	blood
5	chr17:45400400-45402400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr17:45400400-45402400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr17:45400400-45402400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr17:45400400-45402400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr17:45400400-45402400	Active TSS	NHLF	lung
10	chr17:45400400-45402600	Active TSS	A549	lung
11	chr17:45400600-45401200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr17:45400600-45401200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
13	chr17:45400600-45401200	Flanking Active TSS	Dnd41	blood
14	chr17:45400600-45401400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:45400600-45401400	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr17:45400600-45401400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:45400600-45401400	Active TSS	Brain Hippocampus Middle	brain
18	chr17:45400600-45401400	Active TSS	Fetal Brain Female	brain
19	chr17:45400600-45401400	Active TSS	Placenta	Placenta
20	chr17:45400600-45401600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr17:45400600-45401600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr17:45400600-45401600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr17:45400600-45401600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:45400600-45401600	Active TSS	Primary T cells fromperipheralblood	blood
25	chr17:45400600-45401600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:45400600-45401600	Bivalent/Poised TSS	NHEK	skin
27	chr17:45400600-45401800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr17:45400600-45402000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr17:45400600-45402000	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr17:45400600-45402000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr17:45400600-45402000	Active TSS	Brain Angular Gyrus	brain
32	chr17:45400600-45402000	Active TSS	Pancreas	Pancrea
33	chr17:45400600-45402000	Active TSS	Stomach Mucosa	stomach
34	chr17:45400600-45402000	Flanking Active TSS	NH-A	brain
35	chr17:45400600-45402200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:45400600-45402200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr17:45400600-45402200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr17:45400600-45402200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr17:45400600-45402200	Active TSS	Brain Cingulate Gyrus	brain
40	chr17:45400600-45402200	Active TSS	Brain Substantia Nigra	brain
41	chr17:45400600-45402200	Active TSS	Colon Smooth Muscle	Colon
42	chr17:45400600-45402200	Active TSS	Fetal Kidney	kidney
43	chr17:45400600-45402200	Active TSS	Left Ventricle	heart
44	chr17:45400600-45402200	Active TSS	Psoas Muscle	Psoas
45	chr17:45400600-45402200	Active TSS	Right Ventricle	heart
46	chr17:45400600-45402400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr17:45400600-45402400	Active TSS	H9 Cell Line	embryonic stem cell
48	chr17:45400600-45402400	Active TSS	Primary T cells from cord blood	blood
49	chr17:45400600-45402400	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr17:45400600-45402400	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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