Variant report

Variant	rs10116075
Chromosome Location	chr9:116844208-116844209
allele	C/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	MYBL2	chr9:116842304-116845289	HepG2	liver:	n/a	n/a
2	HEY1	chr9:116842588-116845189	HepG2	liver:	n/a	n/a
3	MAZ	chr9:116843059-116845156	HepG2	liver:	n/a	chr9:116843452-116843462
4	CEBPD	chr9:116843971-116844736	HepG2	liver:	n/a	n/a
5	YY1	chr9:116844166-116845164	HepG2	liver:	n/a	n/a
6	SP1	chr9:116842406-116845227	A549	lung:	n/a	chr9:116844352-116844366 chr9:116843251-116843260
7	TCF12	chr9:116842319-116845308	A549	lung:	n/a	chr9:116843446-116843456
8	HDAC2	chr9:116842964-116844702	HepG2	liver:	n/a	chr9:116843340-116843349
9	POLR2A	chr9:116842289-116844808	HepG2	liver:	n/a	n/a
10	CTCF	chr9:116844160-116844310	HepG2	liver:	n/a	n/a
11	ELF1	chr9:116844169-116844578	HepG2	liver:	n/a	n/a
12	HNF4G	chr9:116843049-116844775	HepG2	liver:	n/a	chr9:116843377-116843385 chr9:116843378-116843390 chr9:116843376-116843391 chr9:116843342-116843350
13	MAFK	chr9:116844103-116845021	HepG2	liver:	n/a	chr9:116844354-116844369
14	MBD4	chr9:116844084-116845131	HepG2	liver:	n/a	n/a
15	REST	chr9:116843826-116845086	HepG2	liver:	n/a	n/a
16	NFIC	chr9:116844098-116845119	HepG2	liver:	n/a	n/a
17	TAF1	chr9:116844174-116845079	HepG2	liver:	n/a	n/a
18	MAX	chr9:116842847-116845114	HepG2	liver:	n/a	chr9:116843452-116843462 chr9:116844878-116844888
19	HNF4A	chr9:116844154-116844651	HepG2	liver:	n/a	n/a
20	CTCF	chr9:116844100-116844250	GM12864	blood:	n/a	n/a
21	REST	chr9:116842485-116845193	A549	lung:	n/a	n/a
22	CTCF	chr9:116844163-116845367	A549	lung:	n/a	chr9:116844944-116844957 chr9:116844946-116844956 chr9:116844943-116844964 chr9:116844941-116844959 chr9:116844944-116844953 chr9:116844942-116844958
23	SP1	chr9:116842368-116845209	A549	lung:	n/a	chr9:116844352-116844366 chr9:116843251-116843260
24	POLR2A	chr9:116842272-116845223	HepG2	liver:	n/a	n/a
25	TBP	chr9:116842720-116845074	HepG2	liver:	n/a	n/a
26	MAX	chr9:116842190-116845354	HepG2	liver:	n/a	chr9:116843452-116843462 chr9:116844878-116844888
27	FOXA2	chr9:116844114-116844689	HepG2	liver:	n/a	n/a
28	POLR2A	chr9:116842693-116845034	HepG2	liver:	n/a	n/a
29	ZBTB7A	chr9:116844072-116844493	HepG2	liver:	n/a	n/a
30	EP300	chr9:116842579-116845190	HepG2	liver:	n/a	chr9:116843339-116843349
31	BHLHE40	chr9:116844108-116845133	HepG2	liver:	n/a	n/a
32	MYBL2	chr9:116842527-116845298	HepG2	liver:	n/a	n/a
33	MXI1	chr9:116842815-116845213	HepG2	liver:	n/a	n/a
34	SMC3	chr9:116844181-116845155	HepG2	liver:	n/a	chr9:116844947-116844957 chr9:116844943-116844957
35	RCOR1	chr9:116843063-116845154	HepG2	liver:	n/a	n/a
36	MBD4	chr9:116842569-116845208	HepG2	liver:	n/a	n/a
37	SP1	chr9:116842688-116845098	HepG2	liver:	n/a	chr9:116844352-116844366 chr9:116843251-116843260
38	CTCF	chr9:116844160-116844310	HCM	heart:	n/a	n/a
39	SREBP1	chr9:116843116-116845107	HepG2	liver:	n/a	n/a
40	NFIC	chr9:116842323-116845215	HepG2	liver:	n/a	n/a
41	POLR2A	chr9:116842401-116845170	HepG2	liver:	n/a	n/a
42	POLR2A	chr9:116842329-116845543	HepG2	liver:	n/a	n/a
43	FOXA1	chr9:116844068-116845210	HepG2	liver:	n/a	n/a
44	TEAD4	chr9:116842438-116845262	HepG2	liver:	n/a	n/a
45	EP300	chr9:116843091-116845117	HepG2	liver:	n/a	chr9:116843339-116843349
46	ELF1	chr9:116844097-116844605	HepG2	liver:	n/a	n/a
47	POLR2A	chr9:116844113-116844713	HepG2	liver:	n/a	n/a
48	CTCF	chr9:116844200-116844350	HPAF	blood vessel:	n/a	n/a
49	EP300	chr9:116842781-116844723	HepG2	liver:	n/a	chr9:116843339-116843349
50	HNF4A	chr9:116843010-116845123	HepG2	liver:	n/a	chr9:116843377-116843385 chr9:116843378-116843390 chr9:116843376-116843391 chr9:116843342-116843350

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	chr9:116837232..116841114-chr9:116841892..116845820,4	MCF-7	breast:
4	chr9:116844093..116845109-chr9:117068221..117068772,3	K562	blood:
5	chr9:116843600..116846294-chr9:117069884..117072218,2	MCF-7	breast:
6	chr9:116841868..116844591-chr9:116846288..116849534,3	MCF-7	breast:
7	chr9:116842742..116844725-chr9:116847223..116849817,2	K562	blood:

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

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10119159	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10759681	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10982059	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982048	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1982049	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2116403	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2251680	0.95[ASN][1000 genomes]
rs2285055	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2761691	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6478062	0.80[EUR][1000 genomes]
rs7040719	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7853169	0.80[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:21 , 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	chr9:116840800-116844600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr9:116840800-116845200	Enhancers	Pancreas	Pancrea
6	chr9:116841600-116845200	Enhancers	Fetal Kidney	kidney
7	chr9:116842400-116844800	Enhancers	Gastric	stomach
8	chr9:116842400-116844800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr9:116842400-116845200	Flanking Active TSS	Liver	Liver
10	chr9:116842400-116845200	Enhancers	Duodenum Mucosa	Duodenum
11	chr9:116842600-116844800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:116842600-116845000	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr9:116843000-116845400	Enhancers	Colonic Mucosa	Colon
14	chr9:116843000-116858800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr9:116843600-116844600	Enhancers	Lung	lung
16	chr9:116843600-116845200	Enhancers	Fetal Lung	lung
17	chr9:116843600-116845200	Flanking Active TSS	HepG2	liver
18	chr9:116844000-116844400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr9:116844000-116844400	Enhancers	A549	lung
20	chr9:116844000-116844800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr9:116844200-116844800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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