Variant report

Variant	rs62064209
Chromosome Location	chr17:33639996-33639997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:141)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:141 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr17:33639467-33640372	SK-N-SH	brain:	n/a	n/a
2	FOXM1	chr17:33639686-33640141	GM12878	blood:	n/a	n/a
3	RAD21	chr17:33639644-33640133	ECC-1	luminal epithelium:	n/a	n/a
4	RAD21	chr17:33639692-33640144	HepG2	liver:	n/a	n/a
5	RAD21	chr17:33639683-33640206	HCT-116	colon:	n/a	n/a
6	CTCF	chr17:33639860-33640010	GM12865	blood:	n/a	n/a
7	RAD21	chr17:33639743-33640087	HepG2	liver:	n/a	n/a
8	CTCF	chr17:33639860-33640010	AG04450	lung:	n/a	n/a
9	CTCF	chr17:33639773-33640018	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr17:33639860-33640010	HRPEpiC	eye:	n/a	n/a
11	ZNF143	chr17:33639723-33640292	GM12878	blood:	n/a	n/a
12	CTCF	chr17:33639769-33640050	ProgFib	skin:	n/a	n/a
13	FOXP2	chr17:33639738-33640178	SK-N-MC	brain:	n/a	n/a
14	BHLHE40	chr17:33639798-33640027	K562	blood:	n/a	n/a
15	RAD21	chr17:33639741-33640069	K562	blood:	n/a	n/a
16	MAZ	chr17:33639714-33640503	GM12878	blood:	n/a	n/a
17	CTCF	chr17:33639749-33640059	Medullo	brain:	n/a	n/a
18	CTCF	chr17:33639778-33640040	Fibrobl	skin:	n/a	n/a
19	RAD21	chr17:33639768-33640092	SK-N-SH_RA	brain:	n/a	n/a
20	ELK1	chr17:33639903-33640036	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr17:33639748-33640089	GM12878	blood:	n/a	n/a
22	ZNF143	chr17:33639729-33640075	K562	blood:	n/a	n/a
23	CTCF	chr17:33639673-33640486	A549	lung:	n/a	n/a
24	FOXA2	chr17:33639798-33640355	A549	lung:	n/a	n/a
25	CTCF	chr17:33639780-33640023	GM10266	blood:	n/a	n/a
26	RAD21	chr17:33639559-33640364	A549	lung:	n/a	n/a
27	RAD21	chr17:33639596-33640220	A549	lung:	n/a	n/a
28	CTCF	chr17:33639768-33640056	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chr17:33639740-33640096	A549	lung:	n/a	n/a
30	CTCF	chr17:33639735-33639999	HepG2	liver:	n/a	n/a
31	JUND	chr17:33639759-33640112	K562	blood:	n/a	n/a
32	CTCF	chr17:33639860-33640010	RPTEC	kidney:	n/a	n/a
33	CTCF	chr17:33639880-33640030	RPTEC	kidney:	n/a	n/a
34	CTCF	chr17:33639834-33640090	GM12891	blood:	n/a	n/a
35	GATA2	chr17:33639476-33640002	HUVEC	blood vessel:	n/a	chr17:33639689-33639703
36	CTCF	chr17:33639765-33640051	GM19239	blood:	n/a	n/a
37	CTCF	chr17:33639860-33640010	GM12873	blood:	n/a	n/a
38	CTCF	chr17:33639860-33640010	HCM	heart:	n/a	n/a
39	CTCF	chr17:33639757-33640013	LNCaP	prostate:	n/a	n/a
40	CTCF	chr17:33639695-33640132	K562	blood:	n/a	n/a
41	RAD21	chr17:33639680-33640203	ECC-1	luminal epithelium:	n/a	n/a
42	RAD21	chr17:33639725-33640109	HepG2	liver:	n/a	n/a
43	CTCF	chr17:33639774-33640002	SK-N-SH_RA	brain:	n/a	n/a
44	MAX	chr17:33639838-33640062	H1-hESC	embryonic stem cell:	n/a	n/a
45	SIN3A	chr17:33639760-33641478	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr17:33639746-33640116	K562	blood:	n/a	n/a
47	RAD21	chr17:33639733-33640089	GM12878	blood:	n/a	n/a
48	CTCF	chr17:33639920-33640070	HVMF	connective:	n/a	n/a
49	SMC3	chr17:33639459-33640378	SK-N-SH	brain:	n/a	n/a
50	CTCF	chr17:33639489-33640374	SK-N-SH	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:33639415..33640336-chr17:33860071..33860985,4	K562	blood:
2	chr17:33639164..33640312-chr17:33859981..33861014,10	MCF-7	breast:
3	chr17:33639796..33640300-chr17:33866137..33866644,2	MCF-7	breast:
4	chr17:33639516..33640351-chr17:33860065..33861379,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267364	TF binding region

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1081697	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12952232	0.96[EUR][1000 genomes]
rs1554044	0.96[EUR][1000 genomes]
rs4796077	1.00[EUR][1000 genomes]
rs62064200	0.94[ASN][1000 genomes]
rs62064202	0.94[ASN][1000 genomes]
rs62064210	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62064211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62064212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62064246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62079537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62079540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62079541	1.00[EUR][1000 genomes]
rs62079542	0.91[EUR][1000 genomes]
rs62079543	1.00[EUR][1000 genomes]
rs62079545	1.00[EUR][1000 genomes]
rs62079546	1.00[EUR][1000 genomes]
rs62079547	1.00[EUR][1000 genomes]
rs62079548	1.00[EUR][1000 genomes]
rs62079549	1.00[EUR][1000 genomes]
rs7207186	0.96[EUR][1000 genomes]
rs7211398	1.00[EUR][1000 genomes]
rs772110	0.94[ASN][1000 genomes]
rs772111	0.94[ASN][1000 genomes]
rs9899691	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv574741	chr17:33552275-33827134	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv457724	chr17:33609247-33691409	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv574742	chr17:33609247-33691409	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33638400-33640000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr17:33638600-33640000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr17:33639400-33641000	Enhancers	Dnd41	blood
4	chr17:33639600-33640000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr17:33639600-33640200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr17:33639600-33640600	Active TSS	Thymus	Thymus
7	chr17:33639600-33641600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr17:33639800-33640000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr17:33639800-33640000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr17:33639800-33640000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr17:33639800-33640000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:33639800-33640000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:33639800-33640000	Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr17:33639800-33640000	Active TSS	Primary B cells from cord blood	blood
15	chr17:33639800-33640000	Active TSS	Primary B cells from peripheral blood	blood
16	chr17:33639800-33640000	Active TSS	Primary T cells from cord blood	blood
17	chr17:33639800-33640000	Active TSS	Primary hematopoietic stem cells	blood
18	chr17:33639800-33640000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr17:33639800-33640000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr17:33639800-33640000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:33639800-33640000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:33639800-33640000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:33639800-33640000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr17:33639800-33640000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:33639800-33640000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr17:33639800-33640000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:33639800-33640000	Active TSS	Adipose Nuclei	Adipose
28	chr17:33639800-33640000	Enhancers	Liver	Liver
29	chr17:33639800-33640000	Active TSS	Brain Anterior Caudate	brain
30	chr17:33639800-33640000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr17:33639800-33640000	Enhancers	Brain Substantia Nigra	brain
32	chr17:33639800-33640000	Enhancers	Colonic Mucosa	Colon
33	chr17:33639800-33640000	Active TSS	Duodenum Mucosa	Duodenum
34	chr17:33639800-33640000	Enhancers	Placenta	Placenta
35	chr17:33639800-33640000	Enhancers	Psoas Muscle	Psoas
36	chr17:33639800-33640000	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr17:33639800-33640000	Active TSS	Right Atrium	heart
38	chr17:33639800-33640000	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr17:33639800-33640000	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr17:33639800-33640000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
41	chr17:33639800-33640000	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr17:33639800-33640000	Bivalent/Poised TSS	Osteobl	bone
43	chr17:33639800-33640200	Active TSS	Primary monocytes fromperipheralblood	blood
44	chr17:33639800-33640200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr17:33639800-33640200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr17:33639800-33640200	Active TSS	Brain Hippocampus Middle	brain
47	chr17:33639800-33640200	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr17:33639800-33640800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr17:33639800-33641000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr17:33639800-33641000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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