Variant report

Variant	rs72952798
Chromosome Location	chr6:118895481-118895482
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr6:118895373-118895782	A549	lung:	n/a	n/a
2	SETDB1	chr6:118895129-118897109	K562	blood:	n/a	n/a
3	POLR2A	chr6:118895136-118895645	H1-hESC	embryonic stem cell:	n/a	n/a
4	SP1	chr6:118895077-118895533	H1-hESC	embryonic stem cell:	n/a	n/a
5	KAP1	chr6:118894899-118896080	K562	blood:	n/a	n/a
6	POLR2A	chr6:118894915-118896337	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr6:118894993-118896090	H1-hESC	embryonic stem cell:	n/a	n/a
8	SPI1	chr6:118895391-118895665	GM12891	blood:	n/a	n/a
9	SPI1	chr6:118895439-118895587	K562	blood:	n/a	n/a
10	TBP	chr6:118895125-118895939	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr6:118895072-118895676	H1-neurons	neurons:	n/a	n/a
12	TAF1	chr6:118895102-118895611	H1-hESC	embryonic stem cell:	n/a	n/a
13	SETDB1	chr6:118894759-118896302	U2OS	brain:	n/a	n/a
14	ZNF143	chr6:118895450-118895764	GM12878	blood:	n/a	n/a
15	USF1	chr6:118895466-118895706	K562	blood:	n/a	n/a
16	MAX	chr6:118895074-118895531	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr6:118895076-118896142	H1-hESC	embryonic stem cell:	n/a	n/a
18	KAP1	chr6:118895128-118896057	HEK293	kidney:	n/a	n/a
19	SPI1	chr6:118895334-118895685	GM12891	blood:	n/a	n/a
20	MAX	chr6:118895242-118895577	NB4	blood:	n/a	n/a
21	CBX3	chr6:118895361-118895795	K562	blood:	n/a	n/a
22	MAX	chr6:118895136-118895562	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF1	chr6:118895071-118895824	H1-hESC	embryonic stem cell:	n/a	n/a
24	SETDB1	chr6:118895325-118896059	K562	blood:	n/a	n/a
25	KAP1	chr6:118895157-118895862	U2OS	brain:	n/a	n/a
26	RFX5	chr6:118895136-118895661	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF143	chr6:118895370-118895769	K562	blood:	n/a	n/a
28	POLR2A	chr6:118895082-118896230	H1-hESC	embryonic stem cell:	n/a	n/a
29	STAT1	chr6:118895445-118895496	GM12878	blood:	n/a	n/a
30	CBX3	chr6:118895291-118895861	HCT-116	colon:	n/a	n/a
31	MAX	chr6:118895158-118895514	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr6:118895455-118895484	NB4	blood:	n/a	n/a
33	TAF7	chr6:118895083-118895992	H1-hESC	embryonic stem cell:	n/a	n/a
34	CBX3	chr6:118895164-118895908	K562	blood:	n/a	n/a
35	TRIM28	chr6:118895323-118895801	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
CEP85L	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17348534	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72969525	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv432958	chr6:118692307-119010307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1034448	chr6:118698169-119016383	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv1020586	chr6:118711098-118900012	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv432959	chr6:118716318-119010307	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
16	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
17	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
18	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
19	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
20	nsv1030331	chr6:118874345-118975680	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118873800-118895600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:118889600-118895600	Weak transcription	Ovary	ovary
3	chr6:118894200-118902400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
4	chr6:118894400-118897000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:118894400-118904200	ZNF genes & repeats	Dnd41	blood
6	chr6:118894600-118896200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:118894600-118896200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:118894600-118896200	ZNF genes & repeats	Fetal Lung	lung
9	chr6:118894600-118897000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
10	chr6:118894600-118900600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr6:118894800-118895800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr6:118894800-118898200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:118894800-118898600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
14	chr6:118894800-118900600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr6:118894800-118902600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr6:118895000-118896200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr6:118895000-118896200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr6:118895000-118896200	ZNF genes & repeats	NH-A	brain
19	chr6:118895000-118896400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:118895000-118896400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
21	chr6:118895000-118896600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:118895000-118896600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr6:118895000-118897000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
24	chr6:118895000-118897800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:118895000-118899600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:118895000-118900400	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr6:118895000-118902000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
28	chr6:118895200-118895600	ZNF genes & repeats	Brain Angular Gyrus	brain
29	chr6:118895200-118895600	ZNF genes & repeats	K562	blood
30	chr6:118895200-118895800	ZNF genes & repeats	A549	lung
31	chr6:118895200-118896000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:118895200-118896000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:118895200-118896000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr6:118895200-118896000	ZNF genes & repeats	HSMM	muscle
35	chr6:118895200-118896200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:118895200-118896200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:118895200-118896200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:118895200-118896200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:118895200-118896200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
40	chr6:118895200-118896200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:118895200-118896200	ZNF genes & repeats	Aorta	Aorta
42	chr6:118895200-118896200	ZNF genes & repeats	Liver	Liver
43	chr6:118895200-118896200	ZNF genes & repeats	Gastric	stomach
44	chr6:118895200-118896200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
45	chr6:118895200-118896200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
46	chr6:118895200-118896200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
47	chr6:118895200-118896200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
48	chr6:118895200-118896200	ZNF genes & repeats	HSMMtube	muscle
49	chr6:118895200-118896200	ZNF genes & repeats	Osteobl	bone
50	chr6:118895200-118896400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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