Variant report

Variant	rs72829863
Chromosome Location	chr17:46658981-46658982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:46658660-46659907	ECC-1	luminal epithelium:	n/a	n/a
2	ZBTB7A	chr17:46658497-46658994	K562	blood:	n/a	n/a
3	SUZ12	chr17:46657913-46660550	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr17:46658976-46659060	GM12878	blood:	n/a	n/a
5	POLR2A	chr17:46658884-46659143	K562	blood:	n/a	n/a
6	TAF1	chr17:46658828-46659096	K562	blood:	n/a	n/a
7	POLR2A	chr17:46658373-46660633	K562	blood:	n/a	n/a
8	POLR2A	chr17:46658932-46660085	HUVEC	blood vessel:	n/a	n/a
9	CTBP2	chr17:46658907-46659900	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr17:46658970-46660480	IMR90	lung:	n/a	n/a
11	UBTF	chr17:46658772-46660316	K562	blood:	n/a	n/a
12	POLR2A	chr17:46658802-46659145	HCT-116	colon:	n/a	n/a
13	SUZ12	chr17:46653107-46661081	NT2-D1	testis:	n/a	n/a
14	POLR2A	chr17:46658948-46659737	K562	blood:	n/a	n/a
15	UBTF	chr17:46658861-46659079	K562	blood:	n/a	n/a
16	CCNT2	chr17:46658928-46659979	K562	blood:	n/a	n/a
17	POLR2A	chr17:46655911-46684927	PANC-1	pancreas:	n/a	n/a
18	ZBTB7A	chr17:46658650-46659250	K562	blood:	n/a	n/a
19	HMGN3	chr17:46658725-46659797	K562	blood:	n/a	n/a
20	SIN3AK20	chr17:46658652-46660393	PANC-1	pancreas:	n/a	n/a
21	ELF1	chr17:46658815-46659119	K562	blood:	n/a	chr17:46659005-46659017
22	TCF7L2	chr17:46658895-46659979	PANC-1	pancreas:	n/a	n/a
23	CHD1	chr17:46655927-46662288	IMR90	lung:	n/a	chr17:46657663-46657673 chr17:46660648-46660658
24	CHD2	chr17:46658825-46658997	K562	blood:	n/a	n/a
25	POLR2A	chr17:46645331-46684907	PANC-1	pancreas:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46459433..46462163-chr17:46658202..46660838,2	K562	blood:
2	chr17:46525263..46527446-chr17:46657806..46659592,2	K562	blood:
3	chr17:46652243..46654179-chr17:46657727..46659805,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HOXB4-1	chr17:46656992-46659621	ENSG00000257178.1

No data

Variant related genes	Relation type
HOXB3	TF binding region
MIR10A	TF binding region
HOXB4	TF binding region
ENSG00000120093	Chromatin interaction
ENSG00000200538	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs72829852	0.89[AMR][1000 genomes]
rs72829860	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72829861	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72829862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72829868	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72829877	0.82[EUR][1000 genomes]
rs72829881	0.83[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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46653400-46660400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
2	chr17:46653600-46660200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:46656000-46659200	Flanking Active TSS	HUVEC	blood vessel
4	chr17:46656000-46660600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:46656000-46661200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:46656600-46659200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr17:46656800-46659000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
8	chr17:46656800-46659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr17:46656800-46659000	Weak transcription	Spleen	Spleen
10	chr17:46657000-46659000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr17:46657000-46659000	Enhancers	GM12878-XiMat	blood
12	chr17:46657400-46659200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
13	chr17:46657600-46659000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
14	chr17:46657800-46659000	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr17:46657800-46659600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr17:46657800-46660200	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr17:46658000-46659000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:46658000-46659000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr17:46658000-46659000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr17:46658000-46659800	Bivalent/Poised TSS	Lung	lung
21	chr17:46658000-46661000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr17:46658200-46659000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:46658200-46659000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr17:46658200-46660000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
25	chr17:46658200-46660000	Weak transcription	A549	lung
26	chr17:46658400-46659000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
27	chr17:46658400-46659000	Enhancers	HSMMtube	muscle
28	chr17:46658400-46659200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr17:46658400-46659200	Flanking Bivalent TSS/Enh	NH-A	brain
30	chr17:46658400-46659400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr17:46658400-46661800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr17:46658600-46659000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
33	chr17:46658600-46659000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr17:46658600-46659000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
35	chr17:46658600-46659000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr17:46658600-46659200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
37	chr17:46658600-46659200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
38	chr17:46658600-46659200	Bivalent Enhancer	Placenta	Placenta
39	chr17:46658600-46659400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr17:46658600-46659400	Flanking Active TSS	Colonic Mucosa	Colon
41	chr17:46658600-46659400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr17:46658600-46659600	Bivalent/Poised TSS	NHEK	skin
43	chr17:46658600-46659800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
44	chr17:46658600-46659800	Active TSS	HSMM	muscle
45	chr17:46658600-46660000	Bivalent/Poised TSS	Psoas Muscle	Psoas
46	chr17:46658600-46660200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr17:46658800-46659000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr17:46658800-46659000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr17:46658800-46659200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:46658800-46659200	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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