Variant report

Variant	rs72780655
Chromosome Location	chr10:45455543-45455544
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr10:45454536-45455732	H1-hESC	embryonic stem cell:	n/a	chr10:45454793-45454802 chr10:45454797-45454810
2	MAX	chr10:45454501-45455674	A549	lung:	n/a	n/a
3	POLR2A	chr10:45453206-45457051	GM12878	blood:	n/a	n/a
4	CEBPB	chr10:45455309-45455828	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr10:45455420-45455570	HRPEpiC	eye:	n/a	n/a
6	HMGN3	chr10:45454654-45455631	K562	blood:	n/a	n/a
7	CTCF	chr10:45455400-45455550	SK-N-SH_RA	brain:	n/a	n/a
8	HEY1	chr10:45455166-45455557	HepG2	liver:	n/a	n/a
9	MAX	chr10:45454744-45455648	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr10:45454547-45455731	HepG2	liver:	n/a	n/a
11	POLR2A	chr10:45453599-45456957	HepG2	liver:	n/a	n/a
12	POLR2A	chr10:45454598-45455558	NB4	blood:	n/a	n/a
13	MAX	chr10:45455170-45455548	ECC-1	luminal epithelium:	n/a	n/a
14	MAZ	chr10:45454642-45455678	HepG2	liver:	n/a	n/a
15	MAX	chr10:45455043-45455608	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr10:45454625-45455897	NB4	blood:	n/a	n/a
17	POLR2A	chr10:45454498-45455807	HepG2	liver:	n/a	n/a
18	POLR2A	chr10:45454325-45456507	HL-60	blood:	n/a	n/a
19	CTCF	chr10:45455480-45455630	NHDF-neo	bronchial:	n/a	n/a
20	POLR2A	chr10:45454541-45455595	GM12878	blood:	n/a	n/a
21	ELF1	chr10:45454655-45455563	GM12878	blood:	n/a	n/a
22	WRNIP1	chr10:45455268-45455791	GM12878	blood:	n/a	n/a
23	POLR2A	chr10:45454560-45455788	HepG2	liver:	n/a	n/a
24	RCOR1	chr10:45454650-45455671	HepG2	liver:	n/a	n/a
25	NRF1	chr10:45454404-45455889	SK-N-SH	brain:	n/a	chr10:45454794-45454805 chr10:45454796-45454805 chr10:45454794-45454805 chr10:45454791-45454805 chr10:45454794-45454808
26	MXI1	chr10:45454610-45455639	HepG2	liver:	n/a	n/a
27	MYC	chr10:45454556-45455667	NB4	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:45455500-45455550	NB4	blood:	n/a
2	chr10:45455500-45455550	SK-N-SH	brain:	n/a
3	chr10:45455500-45455550	HRE	kidney:	n/a
4	chr10:45455500-45455550	BJ	skin:	n/a
5	chr10:45455500-45455550	HNPCEpiC	eye:	n/a
6	chr10:45455500-45455550	AG04450	lung:	fetal
7	chr10:45455500-45455550	GM12878	blood:	n/a
8	chr10:45455500-45455550	AG10803	skin:	n/a
9	chr10:45455500-45455550	NHDF-neo	bronchial:	n/a
10	chr10:45455500-45455550	HIPEpiC	eye:	n/a
11	chr10:45455500-45455550	NHBE	bronchial:	n/a
12	chr10:45455500-45455550	BE2_C	brain:	n/a
13	chr10:45455500-45455550	Hela-S3	cervix:	n/a
14	chr10:45455500-45455550	ECC-1	luminal epithelium:	n/a
15	chr10:45455500-45455550	GM12891	blood:	n/a
16	chr10:45455500-45455550	NH-A	brain:	n/a
17	chr10:45455500-45455550	GM19239	blood:	n/a
18	chr10:45455500-45455550	GM12892	blood:	n/a
19	chr10:45455500-45455550	SK-N-SH_RA	brain:	n/a
20	chr10:45455500-45455550	T-47D	breast:	n/a
21	chr10:45455500-45455550	HL-60	blood:	n/a
22	chr10:45455500-45455550	H1-hESC	embryonic stem cell:	embryo
23	chr10:45455500-45455550	K562	blood:	n/a
24	chr10:45455500-45455550	NT2-D1	testis:	n/a
25	chr10:45455500-45455550	HCM	heart:	n/a
26	chr10:45455500-45455550	PFSK-1	brain:	n/a
27	chr10:45455500-45455550	AG09309	skin:	n/a
28	chr10:45455500-45455550	A549	lung:	n/a
29	chr10:45455500-45455550	SKMC	muscle:	n/a
30	chr10:45455500-45455550	RPTEC	kidney:	n/a
31	chr10:45455500-45455550	GM06990	blood:	n/a
32	chr10:45455500-45455550	PrEC	prostate:	n/a
33	chr10:45455500-45455550	AG04449	skin:	fetal
34	chr10:45455500-45455550	AG09319	gingival:	n/a
35	chr10:45455500-45455550	AoSMC	blood vessel:	n/a
36	chr10:45455500-45455550	HCT-116	colon:	n/a
37	chr10:45455500-45455550	HMEC	breast:	n/a
38	chr10:45455500-45455550	MCF10A-Er-Src	breast:	n/a
39	chr10:45455500-45455550	SK-N-MC	brain:	n/a
40	chr10:45455500-45455550	HEK293	kidney:	embryo
41	chr10:45455500-45455550	HPAEpiC	pulmonary alveolar:	n/a
42	chr10:45455500-45455550	HRCEpiC	kidney:	n/a
43	chr10:45455500-45455550	HRPEpiC	eye:	n/a
44	chr10:45455500-45455550	CMK	blood:	n/a
45	chr10:45455500-45455550	HCF	heart:	n/a
46	chr10:45455500-45455550	IMR90	lung:	fetal
47	chr10:45455500-45455550	HAEpiC	amniotic membrane:	n/a
48	chr10:45455500-45455550	LNCaP	prostate:	n/a
49	chr10:45455500-45455550	HEEpiC	esophagus:	n/a
50	chr10:45455500-45455550	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:45454711..45455626-chr11:61159545..61160067,2	NB4	blood:
2	chr10:45452890..45456408-chr10:45484181..45487033,3	MCF-7	breast:
3	chr10:45455308..45456060-chr10:45470129..45471001,2	K562	blood:
4	chr10:45454284..45457115-chr10:45494603..45497911,3	K562	blood:
5	chr10:45454284..45457608-chr10:45494603..45497438,3	K562	blood:
6	chr10:45452399..45456775-chr10:45472666..45475790,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273363	TF binding region
TMEM72-AS1	TF binding region
TMEM72-AS1	CpG island
ENSG00000273363	CpG island
ENSG00000187049	Chromatin interaction
ENSG00000165511	Chromatin interaction
ENSG00000107551	Chromatin interaction
ENSG00000165507	Chromatin interaction
ENSG00000165512	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11595676	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12263146	0.89[EUR][1000 genomes]
rs2183993	0.98[ASN][1000 genomes]
rs59626742	0.91[EUR][1000 genomes]
rs72780658	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs870204	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1035235	chr10:45442303-45467948	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr10:45454000-45455600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr10:45454000-45456800	Active TSS	Psoas Muscle	Psoas
3	chr10:45454200-45455600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr10:45454200-45455600	Active TSS	NHDF-Ad	bronchial
5	chr10:45454200-45456000	Active TSS	Lung	lung
6	chr10:45454200-45456200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:45454200-45456400	Active TSS	Aorta	Aorta
8	chr10:45454200-45456400	Active TSS	Fetal Kidney	kidney
9	chr10:45454200-45456800	Active TSS	Right Atrium	heart
10	chr10:45454200-45457200	Active TSS	HSMMtube	muscle
11	chr10:45454200-45457400	Active TSS	Left Ventricle	heart
12	chr10:45454400-45455600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:45454400-45455600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr10:45454400-45455600	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr10:45454400-45455600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:45454400-45455600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr10:45454400-45455600	Active TSS	Ovary	ovary
18	chr10:45454400-45455600	Active TSS	Rectal Smooth Muscle	rectum
19	chr10:45454400-45455600	Active TSS	Small Intestine	intestine
20	chr10:45454400-45455600	Active TSS	A549	lung
21	chr10:45454400-45455800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr10:45454400-45455800	Active TSS	Colon Smooth Muscle	Colon
23	chr10:45454400-45455800	Active TSS	Fetal Heart	heart
24	chr10:45454400-45456000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:45454400-45456200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:45454400-45456200	Active TSS	Brain Substantia Nigra	brain
27	chr10:45454400-45456200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr10:45454400-45456800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr10:45454400-45456800	Active TSS	Right Ventricle	heart
30	chr10:45454400-45457400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:45454600-45455600	Active TSS	Primary monocytes fromperipheralblood	blood
32	chr10:45454600-45455600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr10:45454600-45455600	Active TSS	Gastric	stomach
34	chr10:45454600-45455600	Active TSS	Hela-S3	cervix
35	chr10:45454600-45455600	Active TSS	NHEK	skin
36	chr10:45454600-45455800	Active TSS	Primary T cells from cord blood	blood
37	chr10:45454600-45456000	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr10:45454600-45456000	Bivalent/Poised TSS	HepG2	liver
39	chr10:45454600-45457000	Active TSS	Brain Angular Gyrus	brain
40	chr10:45454800-45455600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:45455000-45455600	Enhancers	Stomach Mucosa	stomach
42	chr10:45455000-45455600	Active TSS	Monocytes-CD14+_RO01746	blood
43	chr10:45455000-45455800	Active TSS	Brain Hippocampus Middle	brain
44	chr10:45455200-45455600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:45455200-45455600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr10:45455200-45455600	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr10:45455200-45455600	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr10:45455200-45455600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr10:45455200-45455600	Flanking Active TSS	Esophagus	oesophagus
50	chr10:45455200-45455600	Flanking Active TSS	Fetal Thymus	thymus

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