Variant report

Variant	rs72702704
Chromosome Location	chr15:35281159-35281160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:105)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:105 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr15:35279967-35281225	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:35279691-35281278	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:35279870-35281175	K562	blood:	n/a	n/a
4	MXI1	chr15:35279714-35281166	IMR90	lung:	n/a	n/a
5	POLR2A	chr15:35279887-35281343	PBDE	blood:	n/a	n/a
6	RFX5	chr15:35280118-35281249	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:35279762-35281294	GM19099	blood:	n/a	n/a
8	TBL1XR1	chr15:35279932-35281265	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:35279778-35281159	GM18951	blood:	n/a	n/a
10	POLR2A	chr15:35280000-35281212	GM12891	blood:	n/a	n/a
11	ARID3A	chr15:35280445-35281231	K562	blood:	n/a	n/a
12	RCOR1	chr15:35279876-35281606	GM12878	blood:	n/a	n/a
13	POLR2A	chr15:35279745-35281188	GM12892	blood:	n/a	n/a
14	MAX	chr15:35280010-35281160	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr15:35279831-35281413	GM12892	blood:	n/a	n/a
16	POLR2A	chr15:35280003-35281214	Hela-S3	cervix:	n/a	n/a
17	REST	chr15:35279731-35281273	A549	lung:	n/a	chr15:35280384-35280402
18	POLR2A	chr15:35279872-35281252	HL-60	blood:	n/a	n/a
19	ARID3A	chr15:35280309-35281220	HepG2	liver:	n/a	n/a
20	POLR2A	chr15:35279939-35281241	HUVEC	blood vessel:	n/a	n/a
21	MAX	chr15:35279848-35281209	A549	lung:	n/a	n/a
22	POLR2A	chr15:35278314-35281383	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr15:35280160-35281166	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr15:35279875-35281269	U87	brain:	n/a	n/a
25	CHD1	chr15:35278848-35281270	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:35279736-35281202	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr15:35279834-35281180	GM12892	blood:	n/a	n/a
28	POLR2A	chr15:35279739-35281179	GM12892	blood:	n/a	n/a
29	UBTF	chr15:35280028-35281207	K562	blood:	n/a	n/a
30	MAFK	chr15:35280075-35281470	Hela-S3	cervix:	n/a	chr15:35281322-35281333
31	POLR2A	chr15:35280013-35281182	K562	blood:	n/a	n/a
32	POLR2A	chr15:35279844-35281224	K562	blood:	n/a	n/a
33	HEY1	chr15:35279906-35281181	K562	blood:	n/a	chr15:35280497-35280512 chr15:35280506-35280521 chr15:35280470-35280485
34	POLR2A	chr15:35279807-35281248	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr15:35280158-35281174	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr15:35279809-35281232	GM18505	blood:	n/a	n/a
37	MAZ	chr15:35279715-35281532	GM12878	blood:	n/a	n/a
38	POLR2A	chr15:35280169-35281201	U87	brain:	n/a	n/a
39	POLR2A	chr15:35279827-35281201	GM12878	blood:	n/a	n/a
40	USF2	chr15:35280518-35281175	Hela-S3	cervix:	n/a	n/a
41	MAZ	chr15:35280105-35281249	IMR90	lung:	n/a	n/a
42	TAF1	chr15:35280057-35281159	ECC-1	luminal epithelium:	n/a	n/a
43	TBL1XR1	chr15:35280142-35281292	K562	blood:	n/a	n/a
44	EP300	chr15:35280109-35281326	GM12878	blood:	n/a	chr15:35280475-35280484 chr15:35280893-35280903
45	RCOR1	chr15:35280038-35281222	K562	blood:	n/a	n/a
46	POLR2A	chr15:35279823-35281197	GM19193	blood:	n/a	n/a
47	SIN3AK20	chr15:35279980-35281165	A549	lung:	n/a	n/a
48	YY1	chr15:35280243-35281179	K562	blood:	n/a	chr15:35280491-35280505
49	RFX5	chr15:35279940-35281202	Hela-S3	cervix:	n/a	n/a
50	TBP	chr15:35279857-35281165	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:35278794..35283582-chr15:35283942..35288956,6	MCF-7	breast:
2	chr15:35259687..35263562-chr15:35278927..35282925,7	K562	blood:
3	chr15:35261639..35264057-chr15:35280199..35283795,4	MCF-7	breast:
4	chr15:35270344..35273433-chr15:35279404..35282437,5	MCF-7	breast:
5	chr15:35266160..35271969-chr15:35278502..35282901,8	K562	blood:
6	chr15:35280530..35282382-chr15:35836421..35838765,2	K562	blood:
7	chr15:35261024..35262979-chr15:35280572..35282353,2	MCF-7	breast:
8	chr15:35260342..35263784-chr15:35278927..35282487,7	K562	blood:
9	chr15:35280742..35283460-chr15:35305022..35307533,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF770	TF binding region
ENSG00000259181	TF binding region
ENSG00000212768	Chromatin interaction
ENSG00000021776	Chromatin interaction
ENSG00000259181	Chromatin interaction
ENSG00000248079	Chromatin interaction
ENSG00000134146	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11852811	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11855433	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11855456	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34987836	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56181212	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495732	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495733	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164148	1.00[ASN][1000 genomes]
rs72700698	0.88[EUR][1000 genomes]
rs72700699	0.88[EUR][1000 genomes]
rs72700702	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702720	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702721	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702727	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702733	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702734	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702738	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702740	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026240	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042875	0.92[AMR][1000 genomes];0.89[EUR][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	esv3350109	chr15:34668106-35534229	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv522411	chr15:34953986-35462981	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 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	chr15:35278400-35281200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr15:35278400-35281600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:35278600-35281200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:35278600-35281200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:35279000-35281200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr15:35279000-35281200	Active TSS	Fetal Intestine Large	intestine
7	chr15:35279000-35281400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr15:35279000-35281400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:35279200-35281200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr15:35279200-35281200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:35279200-35281200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:35279200-35281200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr15:35279200-35281200	Active TSS	Fetal Intestine Small	intestine
14	chr15:35279200-35281200	Active TSS	Fetal Muscle Trunk	muscle
15	chr15:35279200-35281200	Active TSS	Left Ventricle	heart
16	chr15:35279200-35281200	Active TSS	Ovary	ovary
17	chr15:35279200-35281200	Active TSS	Psoas Muscle	Psoas
18	chr15:35279200-35281200	Active TSS	GM12878-XiMat	blood
19	chr15:35279200-35281200	Active TSS	HSMM	muscle
20	chr15:35279200-35281200	Active TSS	HSMMtube	muscle
21	chr15:35279200-35281200	Active TSS	NHDF-Ad	bronchial
22	chr15:35279200-35281400	Active TSS	Right Atrium	heart
23	chr15:35279200-35281400	Active TSS	Right Ventricle	heart
24	chr15:35279400-35281200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr15:35279400-35281200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:35279400-35281200	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr15:35279400-35281200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:35279400-35281200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:35279400-35281200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:35279400-35281200	Active TSS	A549	lung
31	chr15:35279400-35281200	Active TSS	NHEK	skin
32	chr15:35279400-35281200	Active TSS	NHLF	lung
33	chr15:35279400-35282000	Active TSS	Aorta	Aorta
34	chr15:35279600-35281200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr15:35279600-35281200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr15:35279600-35281200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr15:35279600-35281200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:35279600-35281200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:35279600-35281200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:35279600-35281200	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr15:35279600-35281200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr15:35279600-35281200	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr15:35279600-35281200	Active TSS	Brain Anterior Caudate	brain
44	chr15:35279600-35281200	Active TSS	Brain Cingulate Gyrus	brain
45	chr15:35279600-35281200	Active TSS	Brain Germinal Matrix	brain
46	chr15:35279600-35281200	Active TSS	Brain Hippocampus Middle	brain
47	chr15:35279600-35281200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:35279600-35281200	Active TSS	Brain Substantia Nigra	brain
49	chr15:35279600-35281200	Active TSS	Colonic Mucosa	Colon
50	chr15:35279600-35281200	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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