Variant report

Variant	rs62074393
Chromosome Location	chr17:45330802-45330803
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr17:45330761-45331054	GM12878	blood:	n/a	n/a
2	MAZ	chr17:45330511-45332011	IMR90	lung:	n/a	n/a
3	JUN	chr17:45330487-45331821	K562	blood:	n/a	n/a
4	EP300	chr17:45330742-45331660	ECC-1	luminal epithelium:	n/a	chr17:45331566-45331582 chr17:45331608-45331624
5	CTBP2	chr17:45330800-45332290	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr17:45330497-45332433	SK-N-SH	brain:	n/a	chr17:45331927-45331936 chr17:45331921-45331939
7	MXI1	chr17:45330643-45332297	IMR90	lung:	n/a	n/a
8	CEBPB	chr17:45330569-45330810	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr17:45330700-45331678	HUVEC	blood vessel:	n/a	n/a
10	ZBTB7A	chr17:45330596-45331856	ECC-1	luminal epithelium:	n/a	chr17:45331586-45331597
11	ELF1	chr17:45330704-45331983	GM12878	blood:	n/a	chr17:45331480-45331492
12	ZBTB7A	chr17:45330776-45331834	ECC-1	luminal epithelium:	n/a	chr17:45331586-45331597
13	ZBTB7A	chr17:45330793-45331449	K562	blood:	n/a	n/a
14	MAX	chr17:45330697-45332048	A549	lung:	n/a	n/a
15	GATA2	chr17:45329896-45330980	SH-SY5Y	brain:	n/a	chr17:45330447-45330464 chr17:45330456-45330466 chr17:45330456-45330465 chr17:45330458-45330465
16	E2F6	chr17:45330753-45332175	H1-hESC	embryonic stem cell:	n/a	chr17:45331159-45331166 chr17:45331159-45331166 chr17:45331159-45331166
17	MAX	chr17:45330754-45331943	ECC-1	luminal epithelium:	n/a	n/a
18	CTCF	chr17:45329967-45331680	A549	lung:	n/a	n/a
19	ZBTB7A	chr17:45330669-45331437	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45297983..45300898-chr17:45329772..45332242,2	K562	blood:

Variant related genes	Relation type
ENSG00000259753	TF binding region
ITGB3	TF binding region
ENSG00000252088	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11653733	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62074394	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62074395	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62074396	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73316435	1.00[ASN][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv3370617	chr17:45329978-45332826	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45318600-45331200	Weak transcription	HSMMtube	muscle
2	chr17:45328800-45332200	Enhancers	Fetal Heart	heart
3	chr17:45329400-45331200	Enhancers	Liver	Liver
4	chr17:45330600-45331000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:45330600-45331000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr17:45330600-45331000	Flanking Active TSS	Colon Smooth Muscle	Colon
7	chr17:45330600-45331000	Flanking Active TSS	Fetal Intestine Small	intestine
8	chr17:45330600-45331000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
9	chr17:45330600-45331000	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr17:45330600-45331000	Bivalent Enhancer	Stomach Mucosa	stomach
11	chr17:45330600-45331000	Flanking Active TSS	K562	blood
12	chr17:45330600-45331200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr17:45330600-45331400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:45330600-45331400	Active TSS	Stomach Smooth Muscle	stomach
15	chr17:45330600-45331800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:45330600-45331800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:45330600-45331800	Bivalent/Poised TSS	A549	lung
18	chr17:45330600-45332000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr17:45330600-45332200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr17:45330600-45332200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
21	chr17:45330600-45332200	Flanking Bivalent TSS/Enh	Dnd41	blood
22	chr17:45330600-45332400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr17:45330600-45332800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:45330600-45333000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:45330600-45333000	Active TSS	Rectal Smooth Muscle	rectum
26	chr17:45330800-45331000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr17:45330800-45331000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr17:45330800-45331000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr17:45330800-45331000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr17:45330800-45331000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr17:45330800-45331000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:45330800-45331000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr17:45330800-45331000	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr17:45330800-45331000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
35	chr17:45330800-45331000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
36	chr17:45330800-45331000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
37	chr17:45330800-45331000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
38	chr17:45330800-45331000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
39	chr17:45330800-45331000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
40	chr17:45330800-45331000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr17:45330800-45331000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:45330800-45331000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
43	chr17:45330800-45331000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:45330800-45331000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr17:45330800-45331000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
46	chr17:45330800-45331000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr17:45330800-45331000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr17:45330800-45331000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:45330800-45331000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr17:45330800-45331000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood

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