Variant report

Variant	rs72829869
Chromosome Location	chr17:46662822-46662823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:303)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr17:46662062-46663342	K562	blood:	n/a	n/a
2	BCL3	chr17:46662320-46663465	A549	lung:	n/a	n/a
3	MAZ	chr17:46662285-46664134	IMR90	lung:	n/a	n/a
4	WRNIP1	chr17:46662795-46663051	GM12878	blood:	n/a	n/a
5	ELK1	chr17:46662588-46663130	GM12878	blood:	n/a	n/a
6	MTA3	chr17:46662378-46664216	GM12878	blood:	n/a	n/a
7	CTCF	chr17:46662629-46663060	H1-hESC	embryonic stem cell:	n/a	chr17:46662761-46662774
8	RAD21	chr17:46662437-46663149	IMR90	lung:	n/a	chr17:46663122-46663136
9	JUN	chr17:46662484-46663048	K562	blood:	n/a	n/a
10	MXI1	chr17:46662675-46663013	K562	blood:	n/a	n/a
11	CTCF	chr17:46662820-46662970	GM12866	blood:	n/a	n/a
12	CTCF	chr17:46662690-46663066	GM12892	blood:	n/a	chr17:46662761-46662774
13	RAD21	chr17:46662698-46663049	K562	blood:	n/a	n/a
14	TAL1	chr17:46662770-46662962	K562	blood:	n/a	n/a
15	MAX	chr17:46662645-46663261	K562	blood:	n/a	n/a
16	POLR2A	chr17:46662556-46663563	HCT-116	colon:	n/a	n/a
17	ARID3A	chr17:46662822-46663011	HepG2	liver:	n/a	n/a
18	ZNF384	chr17:46662633-46663069	K562	blood:	n/a	n/a
19	ELF1	chr17:46662652-46663057	K562	blood:	n/a	n/a
20	CEBPB	chr17:46662641-46663348	GM12878	blood:	n/a	n/a
21	E2F6	chr17:46662710-46663410	K562	blood:	n/a	n/a
22	ZBTB7A	chr17:46662567-46663053	K562	blood:	n/a	chr17:46662821-46662829
23	RAD21	chr17:46662657-46663069	GM12878	blood:	n/a	n/a
24	JUND	chr17:46662350-46663220	K562	blood:	n/a	n/a
25	CTCF	chr17:46662820-46662970	BJ	skin:	n/a	n/a
26	SMC3	chr17:46662783-46663034	HepG2	liver:	n/a	n/a
27	SP1	chr17:46662657-46663141	GM12878	blood:	n/a	n/a
28	USF1	chr17:46662704-46663057	K562	blood:	n/a	n/a
29	PML	chr17:46662517-46662985	K562	blood:	n/a	n/a
30	FOXA1	chr17:46662696-46663076	T-47D	breast:	n/a	n/a
31	FOSL2	chr17:46662617-46662989	A549	lung:	n/a	n/a
32	CTCF	chr17:46662751-46663020	SK-N-SH_RA	brain:	n/a	chr17:46662761-46662774
33	SIN3AK20	chr17:46662524-46663407	A549	lung:	n/a	n/a
34	CTCF	chr17:46662773-46663036	H1-hESC	embryonic stem cell:	n/a	n/a
35	REST	chr17:46662270-46663618	A549	lung:	n/a	chr17:46663350-46663363
36	CTCF	chr17:46662758-46663055	MCF-7	breast:	n/a	chr17:46662761-46662774
37	RAD21	chr17:46662704-46663077	SK-N-SH_RA	brain:	n/a	n/a
38	CUX1	chr17:46662585-46663143	GM12878	blood:	n/a	n/a
39	HDAC2	chr17:46662524-46663155	MCF-7	breast:	n/a	n/a
40	RAD21	chr17:46662497-46663157	SK-N-SH_RA	brain:	n/a	chr17:46663122-46663136
41	POLR2A	chr17:46662558-46663073	K562	blood:	n/a	n/a
42	CTCF	chr17:46662798-46663046	GM13976	blood:	n/a	n/a
43	CTCF	chr17:46662718-46663037	ProgFib	skin:	n/a	chr17:46662761-46662774
44	SMC3	chr17:46662460-46663175	GM12878	blood:	n/a	n/a
45	TBL1XR1	chr17:46662657-46663140	K562	blood:	n/a	n/a
46	CTCF	chr17:46662806-46663024	GM20000	blood:	n/a	n/a
47	ZNF143	chr17:46662645-46663099	K562	blood:	n/a	n/a
48	CTCF	chr17:46662820-46662970	GM12875	blood:	n/a	n/a
49	HEY1	chr17:46662573-46663037	K562	blood:	n/a	n/a
50	CTCF	chr17:46662766-46663059	GM13977	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46428798..46429820-chr17:46662269..46663364,6	MCF-7	breast:
2	chr17:46340424..46341008-chr17:46662375..46662930,2	K562	blood:
3	chr17:46552529..46553414-chr17:46662806..46663443,2	K562	blood:
4	chr17:46662731..46663402-chr17:46682480..46683122,2	K562	blood:
5	chr17:46413229..46413908-chr17:46662406..46663395,3	K562	blood:
6	chr17:46589537..46591935-chr17:46661739..46663956,2	MCF-7	breast:
7	chr17:46572626..46574764-chr17:46662731..46664611,2	MCF-7	breast:
8	chr17:46399542..46400089-chr17:46662377..46663363,2	K562	blood:
9	chr17:46660229..46663792-chr17:46665732..46668852,4	K562	blood:
10	chr17:46530850..46533321-chr17:46662351..46664282,2	K562	blood:
11	chr17:46428363..46429421-chr17:46662774..46663395,3	K562	blood:
12	chr17:46569545..46570868-chr17:46662367..46663838,14	MCF-7	breast:
13	chr17:46451915..46452630-chr17:46662498..46663096,2	MCF-7	breast:
14	chr17:46655425..46657433-chr17:46661001..46663692,2	MCF-7	breast:
15	chr17:46412896..46413881-chr17:46662518..46663224,3	MCF-7	breast:
16	chr17:46569538..46570528-chr17:46662492..46663352,3	K562	blood:
17	chr17:46569144..46570490-chr17:46662375..46663400,6	MCF-7	breast:
18	chr17:46578066..46579157-chr17:46662272..46663401,5	K562	blood:

No data

Variant related genes	Relation type
HOXB-AS3	TF binding region
HOXB3	TF binding region
MIR10A	TF binding region
ENSG00000233101	Chromatin interaction
ENSG00000120093	Chromatin interaction
ENSG00000257178	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72829868	0.81[EUR][1000 genomes]
rs72829877	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72829881	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	nsv908577	chr17:46584900-46704536	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	343 gene(s)	inside rSNPs	diseases
4	nsv908578	chr17:46592413-46698710	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
5	nsv908579	chr17:46592413-46727289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
6	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
7	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
8	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
9	nsv908580	chr17:46609103-46698710	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
10	nsv908581	chr17:46610646-46735520	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
11	nsv575480	chr17:46617019-46684929	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
12	nsv908582	chr17:46617019-46698710	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
13	nsv908583	chr17:46617019-46704536	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
14	nsv833471	chr17:46617787-46783345	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	356 gene(s)	inside rSNPs	diseases
15	nsv908584	chr17:46618926-46735520	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
16	nsv457822	chr17:46620402-46698710	Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
17	nsv575481	chr17:46620402-46698710	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
18	nsv457823	chr17:46620402-46704536	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
19	nsv575482	chr17:46620402-46704536	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
20	nsv457824	chr17:46625519-46693491	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
21	nsv575483	chr17:46625519-46693491	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46658800-46665800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr17:46661600-46667000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:46661800-46663800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr17:46661800-46664000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:46662000-46663800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr17:46662000-46664600	Active TSS	NHDF-Ad	bronchial
7	chr17:46662000-46665200	Active TSS	Colon Smooth Muscle	Colon
8	chr17:46662200-46663200	Bivalent/Poised TSS	Fetal Lung	lung
9	chr17:46662200-46663200	Active TSS	NHLF	lung
10	chr17:46662200-46663400	Active TSS	A549	lung
11	chr17:46662200-46663600	Active TSS	Esophagus	oesophagus
12	chr17:46662200-46663600	Active TSS	HSMM	muscle
13	chr17:46662200-46664000	Active TSS	Fetal Kidney	kidney
14	chr17:46662200-46664000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr17:46662200-46664000	Active TSS	Right Atrium	heart
16	chr17:46662200-46664200	Active TSS	Rectal Smooth Muscle	rectum
17	chr17:46662400-46663000	Flanking Bivalent TSS/Enh	Placenta	Placenta
18	chr17:46662400-46663200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr17:46662400-46663200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:46662400-46663200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
21	chr17:46662400-46663400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr17:46662400-46663600	Active TSS	Aorta	Aorta
23	chr17:46662400-46663600	Active TSS	HSMMtube	muscle
24	chr17:46662400-46663800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:46662400-46663800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
26	chr17:46662400-46663800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr17:46662400-46663800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
28	chr17:46662400-46663800	Active TSS	Psoas Muscle	Psoas
29	chr17:46662400-46664000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
30	chr17:46662400-46664000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
31	chr17:46662400-46664000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr17:46662400-46664000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr17:46662400-46664000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
34	chr17:46662400-46664000	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr17:46662400-46664200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
36	chr17:46662400-46664200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
37	chr17:46662400-46664200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
38	chr17:46662400-46664200	Flanking Active TSS	HUVEC	blood vessel
39	chr17:46662400-46665000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr17:46662400-46665000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr17:46662400-46665600	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr17:46662400-46668000	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr17:46662600-46663000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr17:46662600-46663000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr17:46662600-46663000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr17:46662600-46663000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr17:46662600-46663000	Flanking Active TSS	Liver	Liver
48	chr17:46662600-46663000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
49	chr17:46662600-46663000	Bivalent Enhancer	Fetal Heart	heart
50	chr17:46662600-46663000	Enhancers	Placenta Amnion	Placenta Amnion

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