Variant report

Variant	rs62064210
Chromosome Location	chr17:33640161-33640162
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

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	RAD21	chr17:33639683-33640206	HCT-116	colon:	n/a	n/a
3	ZNF143	chr17:33639723-33640292	GM12878	blood:	n/a	n/a
4	FOXP2	chr17:33639738-33640178	SK-N-MC	brain:	n/a	n/a
5	MAZ	chr17:33639714-33640503	GM12878	blood:	n/a	n/a
6	CTCF	chr17:33639673-33640486	A549	lung:	n/a	n/a
7	FOXA2	chr17:33639798-33640355	A549	lung:	n/a	n/a
8	RAD21	chr17:33639559-33640364	A549	lung:	n/a	n/a
9	RAD21	chr17:33639596-33640220	A549	lung:	n/a	n/a
10	RAD21	chr17:33639680-33640203	ECC-1	luminal epithelium:	n/a	n/a
11	SIN3A	chr17:33639760-33641478	H1-hESC	embryonic stem cell:	n/a	n/a
12	SMC3	chr17:33639459-33640378	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr17:33639489-33640374	SK-N-SH	brain:	n/a	n/a
14	STAT1	chr17:33639811-33640183	GM12878	blood:	n/a	n/a
15	SMC3	chr17:33639513-33640780	GM12878	blood:	n/a	n/a
16	SP1	chr17:33639645-33640417	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr17:33639630-33640163	HCT-116	colon:	n/a	n/a
18	RAD21	chr17:33639693-33640164	MCF-7	breast:	n/a	n/a
19	WRNIP1	chr17:33639777-33640270	GM12878	blood:	n/a	n/a
20	CTCF	chr17:33640158-33640270	Gliobla	brain:	n/a	n/a
21	MYC	chr17:33639840-33640405	H1-hESC	embryonic stem cell:	n/a	n/a
22	RUNX3	chr17:33639785-33640606	GM12878	blood:	n/a	n/a
23	CTCF	chr17:33639772-33640199	GM19238	blood:	n/a	n/a
24	CTCF	chr17:33640104-33640169	GM12891	blood:	n/a	n/a
25	RAD21	chr17:33639583-33640301	HCT-116	colon:	n/a	n/a
26	SMC3	chr17:33639692-33640195	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr17:33639629-33640230	HCT-116	colon:	n/a	n/a
28	RAD21	chr17:33639582-33640322	H1-hESC	embryonic stem cell:	n/a	n/a
29	RAD21	chr17:33639695-33640279	GM12878	blood:	n/a	n/a
30	FOXA2	chr17:33639771-33640263	A549	lung:	n/a	n/a
31	KAP1	chr17:33639801-33640208	U2OS	brain:	n/a	n/a
32	RUNX3	chr17:33639748-33640784	GM12878	blood:	n/a	n/a
33	CTCF	chr17:33639677-33640350	GM12878	blood:	n/a	n/a
34	CTCF	chr17:33639677-33640169	MCF-7	breast:	n/a	n/a
35	CTCF	chr17:33639653-33640244	K562	blood:	n/a	n/a
36	RAD21	chr17:33639666-33640339	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr17:33639712-33640271	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr17:33639702-33640308	IMR90	lung:	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]
rs62064209	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62064211	1.00[EUR][1000 genomes]
rs62064212	1.00[EUR][1000 genomes]
rs62064246	1.00[EUR][1000 genomes]
rs62079537	1.00[EUR][1000 genomes]
rs62079540	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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33639400-33641000	Enhancers	Dnd41	blood
2	chr17:33639600-33640200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
3	chr17:33639600-33640600	Active TSS	Thymus	Thymus
4	chr17:33639600-33641600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr17:33639800-33640200	Active TSS	Primary monocytes fromperipheralblood	blood
6	chr17:33639800-33640200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr17:33639800-33640200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr17:33639800-33640200	Active TSS	Brain Hippocampus Middle	brain
9	chr17:33639800-33640200	Flanking Active TSS	Colon Smooth Muscle	Colon
10	chr17:33639800-33640800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:33639800-33641000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:33639800-33641000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr17:33639800-33641000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:33639800-33641200	Flanking Active TSS	Fetal Thymus	thymus
15	chr17:33639800-33641600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr17:33639800-33641600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:33639800-33641800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr17:33639800-33641800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr17:33640000-33640200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
20	chr17:33640000-33640200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr17:33640000-33640200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
22	chr17:33640000-33640200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:33640000-33640200	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr17:33640000-33640200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr17:33640000-33640200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr17:33640000-33640200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr17:33640000-33640200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:33640000-33640200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:33640000-33640200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr17:33640000-33640200	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr17:33640000-33640200	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr17:33640000-33640200	Bivalent Enhancer	Fetal Brain Male	brain
33	chr17:33640000-33640200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr17:33640000-33640200	Enhancers	Pancreas	Pancrea
35	chr17:33640000-33640200	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
36	chr17:33640000-33640200	Flanking Active TSS	HSMMtube	muscle
37	chr17:33640000-33640200	Enhancers	NHEK	skin
38	chr17:33640000-33640200	Flanking Active TSS	NHLF	lung
39	chr17:33640000-33640200	Flanking Bivalent TSS/Enh	Osteobl	bone
40	chr17:33640000-33640400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr17:33640000-33640400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr17:33640000-33640400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr17:33640000-33640400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:33640000-33640400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr17:33640000-33640400	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr17:33640000-33640400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr17:33640000-33640400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr17:33640000-33640400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr17:33640000-33640400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr17:33640000-33640400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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