Variant report

Variant	rs72829861
Chromosome Location	chr17:46652885-46652886
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr17:46652378-46652938	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr17:46652847-46653815	HUVEC	blood vessel:	n/a	n/a
3	RCOR1	chr17:46652749-46652899	K562	blood:	n/a	n/a
4	TCF7L2	chr17:46652133-46652987	HEK293	kidney:	n/a	n/a
5	POLR2A	chr17:46652243-46653986	K562	blood:	n/a	n/a
6	POLR2A	chr17:46652443-46656956	K562	blood:	n/a	n/a
7	IRF1	chr17:46652763-46653282	K562	blood:	n/a	chr17:46653145-46653166
8	FOXM1	chr17:46652231-46653123	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr17:46645800-46653979	PANC-1	pancreas:	n/a	n/a
10	CHD1	chr17:46641810-46654030	IMR90	lung:	n/a	n/a
11	IRF1	chr17:46652808-46653262	K562	blood:	n/a	chr17:46653145-46653166
12	NFIC	chr17:46652298-46652993	ECC-1	luminal epithelium:	n/a	n/a
13	TCF12	chr17:46652266-46652961	ECC-1	luminal epithelium:	n/a	n/a
14	IRF1	chr17:46652558-46653496	K562	blood:	n/a	chr17:46653145-46653166
15	FOXM1	chr17:46652123-46653083	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr17:46652830-46653816	IMR90	lung:	n/a	n/a
17	EP300	chr17:46652093-46653143	ECC-1	luminal epithelium:	n/a	chr17:46652193-46652207
18	TEAD4	chr17:46652342-46653022	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr17:46650582-46653838	K562	blood:	n/a	n/a
20	POLR2A	chr17:46645331-46684907	PANC-1	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	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-HOXB4-2	chr17:46652405-46652912	NONHSAT054413

No data

Variant related genes	Relation type
HOXB3	TF binding region
ENSG00000257178	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs55682497	1.00[AFR][1000 genomes]
rs55786154	1.00[AFR][1000 genomes]
rs56314407	1.00[AFR][1000 genomes]
rs72827889	1.00[AFR][1000 genomes]
rs72829847	1.00[AFR][1000 genomes]
rs72829852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72829860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829862	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72829863	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72829868	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72829877	0.82[EUR][1000 genomes]
rs72829881	0.83[EUR][1000 genomes]
rs72829895	1.00[AFR][1000 genomes]
rs72831805	1.00[AFR][1000 genomes]
rs72831816	1.00[AFR][1000 genomes]
rs72831824	1.00[AFR][1000 genomes]
rs72831829	1.00[AFR][1000 genomes]
rs72831830	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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
22	esv1007307	chr17:46638901-46653131	Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46635000-46654600	Weak transcription	Hela-S3	cervix
2	chr17:46644600-46654200	Weak transcription	Spleen	Spleen
3	chr17:46646400-46654800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
4	chr17:46647400-46653600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr17:46648800-46654200	Weak transcription	Primary T cells from cord blood	blood
6	chr17:46648800-46654800	Weak transcription	Gastric	stomach
7	chr17:46649600-46653000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:46649600-46653600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:46650000-46653200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr17:46650400-46653400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:46650600-46653800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:46650600-46654000	Flanking Active TSS	HUVEC	blood vessel
13	chr17:46650600-46654200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr17:46650600-46655200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr17:46650800-46653400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr17:46651000-46653000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr17:46651000-46653000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:46651000-46653200	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr17:46651000-46653400	Weak transcription	Esophagus	oesophagus
20	chr17:46651000-46653400	Weak transcription	HMEC	breast
21	chr17:46651200-46653000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:46651600-46653400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr17:46651600-46653800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr17:46651800-46653200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:46652000-46653600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
26	chr17:46652000-46654000	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr17:46652200-46653000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:46652200-46653200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr17:46652200-46653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr17:46652200-46653200	Enhancers	Colonic Mucosa	Colon
31	chr17:46652200-46653200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr17:46652200-46653200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr17:46652200-46653200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr17:46652400-46653200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr17:46652400-46653200	Enhancers	GM12878-XiMat	blood
36	chr17:46652400-46653600	Transcr. at gene 5' and 3'	K562	blood
37	chr17:46652400-46654000	Enhancers	HSMMtube	muscle
38	chr17:46652600-46653000	Enhancers	Adipose Nuclei	Adipose
39	chr17:46652600-46653000	Active TSS	Fetal Kidney	kidney
40	chr17:46652600-46653200	Bivalent Enhancer	Fetal Intestine Small	intestine
41	chr17:46652600-46653400	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr17:46652600-46654000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr17:46652600-46654000	Weak transcription	Aorta	Aorta
44	chr17:46652800-46653000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:46652800-46653000	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr17:46652800-46653000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
47	chr17:46652800-46653000	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr17:46652800-46653400	Enhancers	Primary hematopoietic stem cells	blood
49	chr17:46652800-46653400	Enhancers	HSMM	muscle
50	chr17:46652800-46653600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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