Variant report

Variant	rs16912505
Chromosome Location	chr9:116844924-116844925
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	CTCF	chr9:116844790-116845080	Hela-S3	cervix:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
2	STAT3	chr9:116844796-116845124	MCF10A-Er-Src	breast:	n/a	chr9:116844964-116844975 chr9:116844960-116844980
3	SRF	chr9:116844811-116845013	HepG2	liver:	n/a	n/a
4	CTCF	chr9:116844808-116845055	GM13976	blood:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
5	RAD21	chr9:116844645-116845164	HepG2	liver:	n/a	chr9:116844947-116844957 chr9:116844942-116844961 chr9:116844947-116844959 chr9:116844945-116844958
6	CTCF	chr9:116844780-116845095	Kidney_OC	kidney:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
7	MYBL2	chr9:116842304-116845289	HepG2	liver:	n/a	n/a
8	CTCF	chr9:116844802-116845154	ECC-1	luminal epithelium:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
9	RFX5	chr9:116844795-116845101	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr9:116844860-116845010	GM12874	blood:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
11	HEY1	chr9:116842588-116845189	HepG2	liver:	n/a	n/a
12	JUND	chr9:116844249-116844993	HepG2	liver:	n/a	n/a
13	CTCF	chr9:116844804-116845061	MCF-7	breast:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
14	CTCF	chr9:116844780-116845103	GM12891	blood:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
15	MAZ	chr9:116843059-116845156	HepG2	liver:	n/a	chr9:116843452-116843462
16	RAD21	chr9:116844649-116845286	MCF-7	breast:	n/a	chr9:116844947-116844957 chr9:116844942-116844961 chr9:116844947-116844959 chr9:116844945-116844958
17	MAX	chr9:116844715-116845001	K562	blood:	n/a	chr9:116844878-116844888
18	CTCF	chr9:116844729-116845163	K562	blood:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
19	RAD21	chr9:116844692-116845207	ECC-1	luminal epithelium:	n/a	chr9:116844947-116844957 chr9:116844942-116844961 chr9:116844947-116844959 chr9:116844945-116844958
20	CTCF	chr9:116844831-116845111	ECC-1	luminal epithelium:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
21	RAD21	chr9:116844721-116845203	SK-N-SH_RA	brain:	n/a	chr9:116844947-116844957 chr9:116844942-116844961 chr9:116844947-116844959 chr9:116844945-116844958
22	MAX	chr9:116844754-116845035	K562	blood:	n/a	chr9:116844878-116844888
23	MAX	chr9:116844724-116845078	GM12878	blood:	n/a	chr9:116844878-116844888
24	YY1	chr9:116844813-116845037	GM12878	blood:	n/a	n/a
25	MYC	chr9:116844768-116845111	MCF10A-Er-Src	breast:	n/a	chr9:116844878-116844888
26	CTCF	chr9:116844880-116845030	HRPEpiC	eye:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
27	CTCF	chr9:116844698-116845159	A549	lung:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
28	YY1	chr9:116844166-116845164	HepG2	liver:	n/a	n/a
29	SP1	chr9:116842406-116845227	A549	lung:	n/a	chr9:116844352-116844366 chr9:116843251-116843260
30	CTCF	chr9:116844880-116845030	HMF	breast:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
31	MYC	chr9:116844792-116844984	MCF-7	breast:	n/a	chr9:116844878-116844888
32	ZNF143	chr9:116844769-116845117	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr9:116844653-116845152	ECC-1	luminal epithelium:	n/a	chr9:116844878-116844888
34	YY1	chr9:116844248-116845086	HepG2	liver:	n/a	n/a
35	CTCF	chr9:116844797-116845077	GM19239	blood:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
36	NR3C1	chr9:116844695-116845133	A549	lung:	n/a	chr9:116844873-116844888 chr9:116844985-116845011 chr9:116844873-116844887
37	CTCF	chr9:116844663-116845093	T-47D	breast:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
38	TCF12	chr9:116842319-116845308	A549	lung:	n/a	chr9:116843446-116843456
39	RAD21	chr9:116844777-116845150	SK-N-SH_RA	brain:	n/a	chr9:116844947-116844957 chr9:116844942-116844961 chr9:116844947-116844959 chr9:116844945-116844958
40	RAD21	chr9:116844749-116845206	IMR90	lung:	n/a	chr9:116844947-116844957 chr9:116844942-116844961 chr9:116844947-116844959 chr9:116844945-116844958
41	CTCF	chr9:116844860-116845010	WERI-Rb-1	eye:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
42	CTCF	chr9:116844880-116845030	HEEpiC	esophagus:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
43	CTCF	chr9:116844860-116845010	HPF	lung:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
44	MAX	chr9:116844613-116845106	K562	blood:	n/a	chr9:116844878-116844888
45	CTCF	chr9:116844900-116845050	GM12872	blood:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
46	CTCF	chr9:116844809-116845055	HepG2	liver:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
47	CTCF	chr9:116844807-116845026	SK-N-SH_RA	brain:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
48	MAFK	chr9:116844103-116845021	HepG2	liver:	n/a	chr9:116844354-116844369
49	CTCF	chr9:116844840-116844990	GM06990	blood:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
50	CTCF	chr9:116844809-116845062	MCF-7	breast:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958

No.	Distal block	Cell Line	Cell type
1	chr9:116836828..116838763-chr9:116843693..116846191,2	K562	blood:
2	chr9:116843708..116846188-chr9:116846451..116849353,3	MCF-7	breast:
3	chr9:116844821..116845361-chr9:116869981..116870487,2	MCF-7	breast:
4	chr9:116837232..116841114-chr9:116841892..116845820,4	MCF-7	breast:
5	chr9:116844518..116845085-chr9:116869930..116870489,2	MCF-7	breast:
6	chr9:116844247..116845566-chr9:117052560..117054100,7	MCF-7	breast:
7	chr9:116844093..116845109-chr9:117068221..117068772,3	K562	blood:
8	chr9:116844450..116845667-chr9:117052850..117054752,10	K562	blood:
9	chr9:116844583..116845499-chr9:117067855..117068993,4	MCF-7	breast:
10	chr9:116844851..116845417-chr9:117067843..117068379,2	MCF-7	breast:
11	chr9:116843600..116846294-chr9:117069884..117072218,2	MCF-7	breast:
12	chr9:116844678..116846349-chr9:117050619..117053590,2	MCF-7	breast:
13	chr9:116844498..116845455-chr9:117033807..117034432,3	MCF-7	breast:
14	chr9:116844543..116845536-chr9:117026114..117026681,2	K562	blood:
15	chr9:116844453..116844997-chr9:117033798..117034722,3	MCF-7	breast:

Variant related genes	Relation type
AMBP	TF binding region
ENSG00000196739	Chromatin interaction
ENSG00000106927	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs34412510	1.00[EUR][1000 genomes]
rs34578955	1.00[EUR][1000 genomes]
rs35739679	1.00[EUR][1000 genomes]
rs56263506	1.00[EUR][1000 genomes]
rs57079546	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58313981	1.00[EUR][1000 genomes]
rs60017130	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60345423	1.00[EUR][1000 genomes]
rs61126346	1.00[EUR][1000 genomes]
rs7024049	1.00[EUR][1000 genomes]
rs7039786	1.00[EUR][1000 genomes]
rs73543951	1.00[EUR][1000 genomes]
rs73557912	1.00[EUR][1000 genomes]
rs73658325	1.00[EUR][1000 genomes]
rs73658326	1.00[EUR][1000 genomes]
rs9696555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	nsv466514	chr9:116810890-116867054	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv615222	chr9:116810890-116867054	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
6	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
7	nsv466515	chr9:116814661-116867054	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv615223	chr9:116814661-116867054	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv528822	chr9:116815777-116867054	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv466516	chr9:116815777-116867054	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv466518	chr9:116815777-116867054	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv466519	chr9:116815777-116867054	Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv466520	chr9:116815777-116867054	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv466521	chr9:116815777-116867054	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv466522	chr9:116815777-116867054	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv466523	chr9:116815777-116867054	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv471319	chr9:116815777-116867054	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
18	nsv615224	chr9:116815777-116867054	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
19	nsv466524	chr9:116826842-116867054	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv466525	chr9:116826842-116867054	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv615225	chr9:116826842-116867054	Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	esv996359	chr9:116839001-116847886	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	nsv870215	chr9:116842614-117070344	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	124 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116839000-116845200	Enhancers	Stomach Mucosa	stomach
2	chr9:116839800-116846200	Enhancers	Fetal Intestine Small	intestine
3	chr9:116840000-116847000	Enhancers	Fetal Intestine Large	intestine
4	chr9:116840800-116845200	Enhancers	Pancreas	Pancrea
5	chr9:116841600-116845200	Enhancers	Fetal Kidney	kidney
6	chr9:116842400-116845200	Flanking Active TSS	Liver	Liver
7	chr9:116842400-116845200	Enhancers	Duodenum Mucosa	Duodenum
8	chr9:116842600-116845000	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr9:116843000-116845400	Enhancers	Colonic Mucosa	Colon
10	chr9:116843000-116858800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr9:116843600-116845200	Enhancers	Fetal Lung	lung
12	chr9:116843600-116845200	Flanking Active TSS	HepG2	liver
13	chr9:116844400-116845000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr9:116844400-116845400	Flanking Active TSS	A549	lung
15	chr9:116844600-116845200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr9:116844600-116845200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr9:116844600-116845200	Enhancers	Brain Substantia Nigra	brain
18	chr9:116844600-116845400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:116844800-116845200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:116844800-116845200	Enhancers	Fetal Muscle Trunk	muscle
21	chr9:116844800-116845800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:116844800-116851800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:116844800-116855400	Weak transcription	Gastric	stomach

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