Variant report

Variant	rs17133889
Chromosome Location	chr7:50633208-50633209
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	MAX	chr7:50632825-50633330	A549	lung:	n/a	n/a
2	MXI1	chr7:50631638-50633619	SK-N-SH	brain:	n/a	n/a
3	MAFF	chr7:50632787-50633306	HepG2	liver:	n/a	n/a
4	RXRA	chr7:50633048-50633329	HepG2	liver:	n/a	chr7:50633176-50633189 chr7:50633173-50633193 chr7:50633175-50633189 chr7:50633181-50633190 chr7:50633175-50633191
5	HNF4G	chr7:50632687-50633358	HepG2	liver:	n/a	chr7:50633181-50633193 chr7:50633176-50633189 chr7:50633176-50633190 chr7:50633176-50633190 chr7:50633177-50633189
6	EP300	chr7:50632966-50633410	HepG2	liver:	n/a	n/a
7	HNF4A	chr7:50633000-50633296	HepG2	liver:	n/a	chr7:50633175-50633190 chr7:50633181-50633193 chr7:50633176-50633189 chr7:50633176-50633190 chr7:50633176-50633190 chr7:50633177-50633189
8	MYBL2	chr7:50632524-50633459	HepG2	liver:	n/a	n/a
9	JUND	chr7:50632904-50633448	HepG2	liver:	n/a	chr7:50633342-50633353
10	MYBL2	chr7:50632686-50633472	HepG2	liver:	n/a	n/a
11	MYC	chr7:50632690-50633358	HepG2	liver:	n/a	n/a
12	MBD4	chr7:50632739-50633574	HepG2	liver:	n/a	n/a
13	SP1	chr7:50632649-50633435	HepG2	liver:	n/a	n/a
14	POLR2A	chr7:50632546-50633385	HepG2	liver:	n/a	n/a
15	POLR2A	chr7:50632625-50633364	HepG2	liver:	n/a	n/a
16	HEY1	chr7:50632621-50633266	HepG2	liver:	n/a	n/a
17	HDAC2	chr7:50632615-50633479	HepG2	liver:	n/a	chr7:50633183-50633191
18	RFX5	chr7:50632760-50633361	HepG2	liver:	n/a	n/a
19	CEBPB	chr7:50633077-50633381	A549	lung:	n/a	n/a
20	CEBPB	chr7:50632981-50633386	HepG2	liver:	n/a	n/a
21	RAD21	chr7:50632656-50633324	HepG2	liver:	n/a	n/a
22	TCF7L2	chr7:50633168-50633618	HepG2	liver:	n/a	n/a
23	CEBPB	chr7:50633114-50633285	HepG2	liver:	n/a	n/a
24	HEY1	chr7:50632663-50633385	HepG2	liver:	n/a	n/a
25	HNF4A	chr7:50632983-50633385	HepG2	liver:	n/a	chr7:50633175-50633190 chr7:50633181-50633193 chr7:50633176-50633189 chr7:50633176-50633190 chr7:50633176-50633190 chr7:50633177-50633189
26	FOXA2	chr7:50632943-50633310	HepG2	liver:	n/a	n/a
27	EP300	chr7:50632685-50633477	HepG2	liver:	n/a	n/a
28	TEAD4	chr7:50632608-50633506	HepG2	liver:	n/a	n/a
29	POLR2A	chr7:50631981-50633423	HepG2	liver:	n/a	n/a
30	MAX	chr7:50632586-50633581	HepG2	liver:	n/a	n/a
31	EP300	chr7:50633037-50633478	HepG2	liver:	n/a	n/a
32	MAX	chr7:50632498-50633437	HepG2	liver:	n/a	n/a
33	POLR2A	chr7:50632672-50633223	HepG2	liver:	n/a	n/a
34	MXI1	chr7:50632633-50633395	HepG2	liver:	n/a	n/a
35	CEBPB	chr7:50632853-50633467	HepG2	liver:	n/a	n/a
36	ARID3A	chr7:50632370-50633385	HepG2	liver:	n/a	n/a
37	CEBPB	chr7:50632970-50633478	A549	lung:	n/a	n/a
38	MAX	chr7:50632983-50633287	HepG2	liver:	n/a	n/a
39	TBP	chr7:50632616-50633359	HepG2	liver:	n/a	n/a
40	SMC3	chr7:50632668-50633358	HepG2	liver:	n/a	chr7:50632669-50632677
41	BHLHE40	chr7:50632734-50633318	HepG2	liver:	n/a	n/a
42	NFIC	chr7:50632660-50633358	HepG2	liver:	n/a	n/a
43	FOXA1	chr7:50632952-50633349	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
DDC	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs59812849	0.89[AFR][1000 genomes]
rs60933571	0.94[AFR][1000 genomes]
rs60982288	1.00[AFR][1000 genomes]
rs61412038	1.00[AFR][1000 genomes]
rs73342865	1.00[AFR][1000 genomes]
rs73342867	1.00[AFR][1000 genomes]
rs73342870	1.00[AFR][1000 genomes]
rs73342880	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50620800-50635600	Weak transcription	Lung	lung
2	chr7:50631000-50633400	Active TSS	Fetal Intestine Large	intestine
3	chr7:50631800-50633400	Active TSS	Colonic Mucosa	Colon
4	chr7:50631800-50633400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr7:50631800-50633800	Enhancers	Adipose Nuclei	Adipose
6	chr7:50631800-50633800	Flanking Active TSS	HepG2	liver
7	chr7:50632000-50634000	Enhancers	Stomach Mucosa	stomach
8	chr7:50632400-50633800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:50632600-50633400	Flanking Active TSS	A549	lung
10	chr7:50632800-50633400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:50633200-50633600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:50633200-50633800	Flanking Active TSS	Fetal Intestine Small	intestine
13	chr7:50633200-50634200	Enhancers	Liver	Liver
14	chr7:50633200-50634200	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr7:50633200-50634200	Enhancers	Pancreas	Pancrea
16	chr7:50633200-50634200	Enhancers	Rectal Mucosa Donor 31	rectum

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