Variant report

Variant	rs72829845
Chromosome Location	chr17:46619691-46619692
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	POLR2A	chr17:46618856-46619975	ProgFib	skin:	n/a	n/a
2	POLR2A	chr17:46618007-46622747	K562	blood:	n/a	n/a
3	TBP	chr17:46618760-46620033	K562	blood:	n/a	n/a
4	POLR2A	chr17:46616545-46629919	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr17:46616973-46622292	K562	blood:	n/a	n/a
6	POLR2A	chr17:46618264-46620080	K562	blood:	n/a	n/a
7	CCNT2	chr17:46619605-46619948	K562	blood:	n/a	chr17:46619789-46619798
8	UBTF	chr17:46618433-46622294	K562	blood:	n/a	n/a
9	RAD21	chr17:46618570-46619971	IMR90	lung:	n/a	n/a
10	POLR2A	chr17:46619534-46619897	GM12891	blood:	n/a	n/a
11	POLR2A	chr17:46618757-46620044	GM19193	blood:	n/a	n/a
12	SUZ12	chr17:46619167-46619955	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZNF263	chr17:46618615-46619921	HEK293-T-REx	kidney:	n/a	n/a
14	POLR2A	chr17:46618381-46619985	K562	blood:	n/a	n/a
15	POLR2A	chr17:46619455-46620005	GM12892	blood:	n/a	n/a
16	MAZ	chr17:46618593-46619958	K562	blood:	n/a	chr17:46619640-46619650
17	HEY1	chr17:46618698-46620046	K562	blood:	n/a	chr17:46619510-46619525
18	UBTF	chr17:46618409-46622293	K562	blood:	n/a	n/a
19	ZMIZ1	chr17:46618488-46619816	K562	blood:	n/a	n/a
20	POLR2A	chr17:46619502-46620012	GM12891	blood:	n/a	n/a
21	MAX	chr17:46619629-46620009	K562	blood:	n/a	chr17:46619640-46619650
22	POLR2A	chr17:46619072-46620063	GM12878	blood:	n/a	n/a
23	POLR2A	chr17:46618573-46620047	GM12878	blood:	n/a	n/a
24	SIN3AK20	chr17:46618541-46620002	PANC-1	pancreas:	n/a	n/a
25	HEY1	chr17:46618693-46619990	K562	blood:	n/a	chr17:46619510-46619525
26	POLR2A	chr17:46618816-46620023	IMR90	lung:	n/a	n/a
27	POLR2A	chr17:46618394-46620004	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr17:46618296-46623366	K562	blood:	n/a	n/a
29	CHD2	chr17:46618608-46619702	K562	blood:	n/a	n/a
30	PML	chr17:46618663-46620142	K562	blood:	n/a	n/a
31	IRF1	chr17:46619454-46619997	K562	blood:	n/a	chr17:46619788-46619802
32	CHD1	chr17:46619679-46622065	GM12878	blood:	n/a	chr17:46619790-46619800
33	CTCF	chr17:46619560-46619710	NHEK	skin:	n/a	n/a
34	POLR2A	chr17:46618956-46620044	GM15510	blood:	n/a	n/a
35	POLR2A	chr17:46618649-46619996	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr17:46618730-46620061	GM18526	blood:	n/a	n/a
37	POLR2A	chr17:46618228-46620038	U87	brain:	n/a	n/a
38	TCF7L2	chr17:46619647-46619737	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr17:46618334-46620158	K562	blood:	n/a	n/a
40	MAZ	chr17:46618843-46619898	GM12878	blood:	n/a	chr17:46619640-46619650
41	POLR2A	chr17:46618249-46620045	K562	blood:	n/a	n/a
42	YY1	chr17:46618799-46619970	GM12891	blood:	n/a	chr17:46619107-46619121 chr17:46619194-46619216 chr17:46619197-46619205 chr17:46619116-46619130 chr17:46619193-46619205
43	TEAD4	chr17:46618238-46619958	K562	blood:	n/a	n/a
44	MYC	chr17:46618604-46619873	K562	blood:	n/a	chr17:46619640-46619650
45	POLR2A	chr17:46618938-46619965	GM12878	blood:	n/a	n/a
46	TAF7	chr17:46618965-46619749	K562	blood:	n/a	n/a
47	POLR2A	chr17:46618930-46620097	GM12878	blood:	n/a	n/a
48	TAF1	chr17:46618840-46620020	K562	blood:	n/a	n/a
49	PML	chr17:46618411-46619999	K562	blood:	n/a	n/a
50	ZBTB7A	chr17:46619632-46619946	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46618342..46619854-chr17:46690014..46692247,2	K562	blood:
2	chr17:46618868..46624573-chr17:46700689..46705978,10	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HOXB2-1	chr17:46619497-46619805	NONHSAT054401

Variant related genes	Relation type
HOXB-AS1	TF binding region
ENSG00000120068	Chromatin interaction
ENSG00000170689	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12452773	0.88[EUR][1000 genomes]
rs17625073	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72829813	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72829816	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72829819	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72829823	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72829828	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72829842	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46617600-46620200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr17:46618000-46619800	Active TSS	Colon Smooth Muscle	Colon
3	chr17:46618200-46622400	Active TSS	Rectal Smooth Muscle	rectum
4	chr17:46618400-46619800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:46618400-46619800	Flanking Bivalent TSS/Enh	Placenta	Placenta
6	chr17:46618400-46619800	Active TSS	Psoas Muscle	Psoas
7	chr17:46618400-46619800	Active TSS	Small Intestine	intestine
8	chr17:46618400-46620000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr17:46618400-46620000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:46618400-46620400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
11	chr17:46618400-46620600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr17:46618400-46620600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:46618400-46620600	Bivalent/Poised TSS	Colonic Mucosa	Colon
14	chr17:46618400-46621000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
15	chr17:46618400-46621600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:46618400-46622000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
17	chr17:46618400-46622400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
18	chr17:46618400-46622400	Bivalent/Poised TSS	Thymus	Thymus
19	chr17:46618400-46622600	Active TSS	Right Atrium	heart
20	chr17:46618400-46622600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr17:46618600-46619800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr17:46618600-46619800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr17:46618600-46620000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
24	chr17:46618600-46620000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:46618600-46620000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:46618600-46620800	Active TSS	Lung	lung
27	chr17:46618600-46620800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
28	chr17:46618600-46621200	Transcr. at gene 5' and 3'	NHLF	lung
29	chr17:46618600-46621400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:46618600-46621400	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr17:46618600-46622200	Active TSS	Esophagus	oesophagus
32	chr17:46618600-46622200	Bivalent/Poised TSS	GM12878-XiMat	blood
33	chr17:46618600-46622400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr17:46618600-46622400	Active TSS	Aorta	Aorta
35	chr17:46618600-46622400	Active TSS	Placenta Amnion	Placenta Amnion
36	chr17:46618600-46622600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr17:46618600-46622600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr17:46618600-46622600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr17:46618600-46622600	Bivalent/Poised TSS	Fetal Lung	lung
40	chr17:46618800-46619800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr17:46618800-46619800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr17:46618800-46620200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr17:46618800-46620400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
44	chr17:46618800-46620400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr17:46618800-46620400	Active TSS	Pancreas	Pancrea
46	chr17:46618800-46620600	Bivalent/Poised TSS	Right Ventricle	heart
47	chr17:46618800-46620800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr17:46618800-46621200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:46618800-46621400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr17:46618800-46621600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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