Variant report

Variant	rs73300575
Chromosome Location	chr17:17489687-17489688
allele	C/T
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	CTCF	chr17:17489620-17489770	HUVEC	blood vessel:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
2	MYC	chr17:17489643-17489696	K562	blood:	n/a	chr17:17489679-17489689
3	CTCF	chr17:17489632-17489763	GM20000	blood:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
4	CTCF	chr17:17489521-17489856	SK-N-SH	brain:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
5	CTCF	chr17:17489620-17489770	HepG2	liver:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
6	CTCF	chr17:17489620-17489770	AG09309	skin:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
7	CTCF	chr17:17489600-17489750	Hela-S3	cervix:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
8	CTCF	chr17:17489603-17489738	Pancreas_OC	pancreas:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
9	CTCF	chr17:17489600-17489750	GM12875	blood:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
10	CTCF	chr17:17489540-17489810	HMEC	breast:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
11	CTCF	chr17:17489577-17489763	HepG2	liver:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
12	CTCF	chr17:17489600-17489750	HepG2	liver:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
13	CTCF	chr17:17489620-17489770	GM12873	blood:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
14	CTCF	chr17:17489620-17489770	GM12864	blood:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
15	CTCF	chr17:17489660-17489810	BE2_C	brain:	n/a	n/a
16	CTCF	chr17:17489600-17489750	HVMF	connective:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
17	CTCF	chr17:17489600-17489750	GM12865	blood:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
18	MAX	chr17:17489584-17489796	H1-hESC	embryonic stem cell:	n/a	chr17:17489679-17489689
19	RAD21	chr17:17489503-17489814	H1-hESC	embryonic stem cell:	n/a	chr17:17489653-17489667 chr17:17489649-17489668 chr17:17489680-17489693 chr17:17489682-17489694
20	CTCF	chr17:17489600-17489750	WI-38	lung:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
21	CTCF	chr17:17489640-17489790	SAEC	small airway:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
22	CTCF	chr17:17489620-17489770	RPTEC	kidney:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
23	MYC	chr17:17489523-17489821	H1-hESC	embryonic stem cell:	n/a	chr17:17489679-17489689
24	MAX	chr17:17489487-17489843	MCF-7	breast:	n/a	chr17:17489679-17489689
25	CTCF	chr17:17489573-17489774	HepG2	liver:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
26	CTCF	chr17:17489620-17489770	MCF-7	breast:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
27	CTCF	chr17:17489620-17489770	GM12866	blood:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
28	CTCF	chr17:17489622-17489756	GM13976	blood:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
29	CTCF	chr17:17489620-17489770	HAc	cerebellar:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
30	CTCF	chr17:17489620-17489770	HPAF	blood vessel:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
31	CTCF	chr17:17489640-17489790	GM06990	blood:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
32	CTCF	chr17:17489640-17489790	HCPEpiC	choroid plexus:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
33	CTCF	chr17:17489620-17489770	GM06990	blood:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
34	MAX	chr17:17489574-17489928	H1-hESC	embryonic stem cell:	n/a	chr17:17489679-17489689
35	CTCF	chr17:17489491-17489844	K562	blood:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
36	RAD21	chr17:17489553-17489726	SK-N-SH_RA	brain:	n/a	chr17:17489653-17489667 chr17:17489649-17489668 chr17:17489680-17489693 chr17:17489682-17489694
37	CTCF	chr17:17489541-17489804	H1-hESC	embryonic stem cell:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
38	CTCF	chr17:17489592-17489773	GM19239	blood:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
39	CTCF	chr17:17489620-17489770	HA-sp	spinal cord:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
40	CTCF	chr17:17489620-17489770	A549	lung:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
41	CTCF	chr17:17489620-17489770	HMF	breast:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
42	CTCF	chr17:17489620-17489770	GM12872	blood:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
43	CTCF	chr17:17489586-17489789	Gliobla	brain:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
44	CTCF	chr17:17489660-17489810	GM12867	blood:	n/a	n/a
45	CTCF	chr17:17489600-17489750	HCT-116	colon:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
46	CTCF	chr17:17489620-17489770	HPF	lung:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
47	CTCF	chr17:17489578-17489783	Fibrobl	skin:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
48	CTCF	chr17:17489620-17489770	HRE	kidney:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
49	CTCF	chr17:17489560-17489710	GM12868	blood:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667
50	CTCF	chr17:17489600-17489750	NHDF-neo	bronchial:	n/a	chr17:17489652-17489668 chr17:17489651-17489669 chr17:17489653-17489666 chr17:17489646-17489667

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17489116..17489897-chr17:17545271..17545946,2	MCF-7	breast:

Variant related genes	Relation type
PEMT	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56888695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57606281	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58186401	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58701210	1.00[AMR][1000 genomes]
rs60811700	0.83[AMR][1000 genomes]
rs6502607	0.82[AFR][1000 genomes]
rs73288121	0.83[AMR][1000 genomes]
rs73300562	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300567	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv907747	chr17:17412032-17504856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv470579	chr17:17424332-17493810	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
8	nsv1062052	chr17:17461050-17507199	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv543237	chr17:17461050-17507199	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv833383	chr17:17464635-17509138	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17469000-17494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:17469200-17493600	Weak transcription	Thymus	Thymus
3	chr17:17471600-17493600	Weak transcription	Brain Angular Gyrus	brain
4	chr17:17471800-17493600	Weak transcription	Colon Smooth Muscle	Colon
5	chr17:17472400-17493600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr17:17474200-17493600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr17:17474600-17493800	Weak transcription	Primary B cells from cord blood	blood
8	chr17:17474800-17493200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:17478200-17493800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:17479800-17493400	Weak transcription	HMEC	breast
11	chr17:17480200-17490800	Weak transcription	NHEK	skin
12	chr17:17480200-17493000	Weak transcription	Brain Germinal Matrix	brain
13	chr17:17480200-17493600	Weak transcription	Esophagus	oesophagus
14	chr17:17480200-17493600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr17:17480400-17492800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr17:17480400-17493400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:17480400-17493400	Weak transcription	Pancreas	Pancrea
18	chr17:17480400-17493600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr17:17480400-17493600	Weak transcription	Fetal Brain Female	brain
20	chr17:17480400-17493600	Weak transcription	Left Ventricle	heart
21	chr17:17480400-17493600	Weak transcription	Spleen	Spleen
22	chr17:17480400-17493600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr17:17480400-17493800	Weak transcription	Primary T cells from cord blood	blood
24	chr17:17480400-17493800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr17:17480400-17493800	Weak transcription	Colonic Mucosa	Colon
26	chr17:17480600-17492000	Weak transcription	Dnd41	blood
27	chr17:17480600-17493000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr17:17480600-17493400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr17:17480600-17493400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr17:17480600-17493400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr17:17480600-17493600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr17:17480600-17493600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:17480600-17493600	Weak transcription	NHLF	lung
34	chr17:17480800-17493200	Weak transcription	Lung	lung
35	chr17:17480800-17493800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr17:17481000-17494000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr17:17483600-17494200	Weak transcription	Gastric	stomach
38	chr17:17484400-17491000	Weak transcription	Ovary	ovary
39	chr17:17484600-17493200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr17:17484600-17493600	Weak transcription	Right Ventricle	heart
41	chr17:17485000-17491000	Weak transcription	NHDF-Ad	bronchial
42	chr17:17485000-17493600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr17:17485000-17493600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr17:17485200-17491200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:17485200-17493400	Weak transcription	A549	lung
46	chr17:17485200-17493400	Weak transcription	Hela-S3	cervix
47	chr17:17485200-17493600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr17:17485200-17493600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr17:17485400-17493600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr17:17485400-17493800	Weak transcription	Placenta	Placenta

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