Variant report

Variant	rs72829886
Chromosome Location	chr17:46687231-46687232
allele	A/G
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	SUZ12	chr17:46686802-46688344	NT2-D1	testis:	n/a	n/a
2	POLR2A	chr17:46687211-46689612	ProgFib	skin:	n/a	n/a
3	FOSL2	chr17:46686907-46687832	A549	lung:	n/a	chr17:46687359-46687368
4	SIN3AK20	chr17:46687005-46689014	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr17:46686211-46690442	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr17:46687045-46687366	HCT-116	colon:	n/a	n/a
7	MAX	chr17:46687054-46691101	A549	lung:	n/a	chr17:46689596-46689606 chr17:46687379-46687389 chr17:46688399-46688412 chr17:46688400-46688411 chr17:46688415-46688424 chr17:46687617-46687627 chr17:46688401-46688410 chr17:46688401-46688410 chr17:46688413-46688422 chr17:46688414-46688425 chr17:46689593-46689603 chr17:46688401-46688410 chr17:46688399-46688412 chr17:46687253-46687263 chr17:46688400-46688409
8	TCF12	chr17:46687095-46690958	A549	lung:	n/a	chr17:46687150-46687157 chr17:46689250-46689260
9	MTA3	chr17:46687151-46688965	GM12878	blood:	n/a	n/a
10	CHD2	chr17:46687022-46688862	Hela-S3	cervix:	n/a	chr17:46687305-46687315
11	POLR2A	chr17:46686938-46688983	K562	blood:	n/a	n/a
12	TCF12	chr17:46687110-46688144	ECC-1	luminal epithelium:	n/a	chr17:46687150-46687157
13	SIX5	chr17:46686953-46687724	A549	lung:	n/a	chr17:46687079-46687095
14	POLR2A	chr17:46686914-46688882	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr17:46685805-46708856	PANC-1	pancreas:	n/a	n/a
16	MAZ	chr17:46686443-46688186	K562	blood:	n/a	chr17:46687379-46687389 chr17:46687617-46687627 chr17:46687253-46687263
17	POLR2A	chr17:46687015-46688918	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr17:46687074-46690508	HCT-116	colon:	n/a	n/a
19	POLR2A	chr17:46687115-46687427	K562	blood:	n/a	n/a
20	ZBTB7A	chr17:46687070-46687832	K562	blood:	n/a	chr17:46687795-46687802
21	CTBP2	chr17:46687092-46688279	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr17:46687027-46687348	K562	blood:	n/a	n/a
23	POLR2A	chr17:46686611-46688909	K562	blood:	n/a	n/a
24	MAX	chr17:46687065-46688746	K562	blood:	n/a	chr17:46687379-46687389 chr17:46688399-46688412 chr17:46688400-46688411 chr17:46688415-46688424 chr17:46687617-46687627 chr17:46688401-46688410 chr17:46688401-46688410 chr17:46688413-46688422 chr17:46688414-46688425 chr17:46688401-46688410 chr17:46688399-46688412 chr17:46687253-46687263 chr17:46688400-46688409
25	POLR2A	chr17:46685788-46692102	PANC-1	pancreas:	n/a	n/a
26	SMARCB1	chr17:46686813-46689764	Hela-S3	cervix:	n/a	n/a
27	SUZ12	chr17:46686772-46688152	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr17:46687229-46687360	HUVEC	blood vessel:	n/a	n/a
29	ZNF143	chr17:46687194-46687318	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr17:46686914-46690902	Hela-S3	cervix:	n/a	n/a
31	REST	chr17:46687001-46690419	A549	lung:	n/a	chr17:46689534-46689547 chr17:46689624-46689637 chr17:46689078-46689091 chr17:46687565-46687583
32	ELK1	chr17:46687226-46687306	Hela-S3	cervix:	n/a	n/a
33	ZBTB7A	chr17:46687090-46687703	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:46212650..46214229-chr17:46686261..46688122,2	MCF-7	breast:
2	chr17:46687190..46687709-chr22:46933195..46933836,2	HCT-116	colon:
3	chr17:46685746..46689281-chr17:46702801..46705653,3	MCF-7	breast:
4	chr17:46412297..46414059-chr17:46686711..46688269,2	MCF-7	breast:
5	chr17:46337445..46339514-chr17:46686634..46688158,2	MCF-7	breast:
6	chr17:46675371..46683952-chr17:46685648..46690575,16	MCF-7	breast:
7	chr17:46687211..46688141-chr20:30181460..30182033,2	HCT-116	colon:
8	chr17:46686493..46690300-chr17:46702976..46707350,6	MCF-7	breast:

Variant related genes	Relation type
HOXB6	TF binding region
HOXB7	TF binding region
HOXB3	TF binding region
ENSG00000108511	Chromatin interaction
ENSG00000242207	Chromatin interaction
ENSG00000120093	Chromatin interaction
ENSG00000233101	Chromatin interaction
ENSG00000170689	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2740754	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3833172	0.83[AFR][1000 genomes]
rs72829877	0.84[AMR][1000 genomes]
rs72829881	0.84[AMR][1000 genomes]
rs72829884	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs890430	0.87[AFR][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	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	nsv543380	chr17:46686151-46721371	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46683600-46691000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr17:46686000-46687600	Flanking Active TSS	Colonic Mucosa	Colon
3	chr17:46686200-46687400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:46686200-46687400	Bivalent Enhancer	Placenta	Placenta
5	chr17:46686200-46687800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:46686200-46688200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr17:46686400-46687400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr17:46686400-46687400	Flanking Active TSS	A549	lung
9	chr17:46686400-46687600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr17:46686600-46687400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr17:46686600-46687600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:46686600-46687600	Flanking Active TSS	K562	blood
13	chr17:46686800-46687400	Flanking Active TSS	HUVEC	blood vessel
14	chr17:46686800-46687600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:46686800-46687600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr17:46686800-46687600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
17	chr17:46687000-46687400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:46687000-46687400	Bivalent Enhancer	Fetal Lung	lung
19	chr17:46687000-46687400	Flanking Active TSS	Rectal Smooth Muscle	rectum
20	chr17:46687000-46687600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:46687000-46687600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr17:46687000-46687600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr17:46687000-46687600	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr17:46687000-46688600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
25	chr17:46687000-46689000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:46687000-46689000	Active TSS	Fetal Kidney	kidney
27	chr17:46687000-46690400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr17:46687000-46691600	Active TSS	HSMMtube	muscle
29	chr17:46687200-46687400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
30	chr17:46687200-46687400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
31	chr17:46687200-46687400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
32	chr17:46687200-46687400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr17:46687200-46687400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:46687200-46687400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:46687200-46687400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
36	chr17:46687200-46687400	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr17:46687200-46687400	Bivalent/Poised TSS	Small Intestine	intestine
38	chr17:46687200-46687400	Flanking Active TSS	GM12878-XiMat	blood
39	chr17:46687200-46687600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr17:46687200-46687600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
41	chr17:46687200-46687600	Bivalent Enhancer	Esophagus	oesophagus
42	chr17:46687200-46687600	Bivalent Enhancer	Lung	lung
43	chr17:46687200-46687600	Enhancers	Spleen	Spleen
44	chr17:46687200-46687800	Bivalent Enhancer	Primary B cells from cord blood	blood
45	chr17:46687200-46687800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
46	chr17:46687200-46687800	Bivalent/Poised TSS	Psoas Muscle	Psoas
47	chr17:46687200-46687800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
48	chr17:46687200-46688600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:46687200-46688600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
50	chr17:46687200-46688600	Active TSS	NHLF	lung

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