Variant report

Variant	rs45466796
Chromosome Location	chr7:99317993-99317994
allele	C/T
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	SP1	chr7:99317809-99318343	HepG2	liver:	n/a	n/a
2	FOXA2	chr7:99317907-99318239	HepG2	liver:	n/a	n/a
3	MYBL2	chr7:99317786-99318435	HepG2	liver:	n/a	n/a
4	EP300	chr7:99317920-99318357	HepG2	liver:	n/a	n/a
5	FOXA1	chr7:99317715-99318353	HepG2	liver:	n/a	n/a
6	HNF4G	chr7:99317899-99318279	HepG2	liver:	n/a	n/a
7	ARID3A	chr7:99317835-99318286	HepG2	liver:	n/a	n/a
8	HNF4A	chr7:99317922-99318282	HepG2	liver:	n/a	n/a
9	CEBPB	chr7:99317967-99318253	HepG2	liver:	n/a	n/a
10	HEY1	chr7:99317899-99318380	HepG2	liver:	n/a	n/a
11	FOXA1	chr7:99317737-99318319	HepG2	liver:	n/a	n/a
12	HNF4G	chr7:99317879-99318356	HepG2	liver:	n/a	n/a
13	HNF4A	chr7:99317918-99318279	HepG2	liver:	n/a	n/a
14	CEBPB	chr7:99317988-99318190	HepG2	liver:	n/a	n/a
15	FOXA1	chr7:99317864-99318326	HepG2	liver:	n/a	n/a
16	EP300	chr7:99317845-99318335	HepG2	liver:	n/a	n/a
17	FOXA1	chr7:99317779-99318334	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CYP3A7	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2204127	0.85[AFR][1000 genomes]
rs35073169	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv970911	chr7:99275492-99333590	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv888771	chr7:99294762-99355278	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv3378448	chr7:99295540-99331065	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99303200-99318200	Weak transcription	Fetal Heart	heart
2	chr7:99303200-99337200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:99304800-99318000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr7:99306000-99339000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:99306800-99340800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:99307200-99334400	Weak transcription	Left Ventricle	heart
7	chr7:99307400-99318000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:99311800-99318400	Weak transcription	Pancreas	Pancrea
9	chr7:99311800-99349000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:99314800-99334400	Weak transcription	Esophagus	oesophagus
11	chr7:99315600-99318400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:99315600-99331200	Weak transcription	Aorta	Aorta
13	chr7:99317000-99319200	Enhancers	HepG2	liver
14	chr7:99317000-99320800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:99317200-99318800	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr7:99317200-99319200	Enhancers	Primary T cells from cord blood	blood
17	chr7:99317400-99318600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:99317400-99318800	Enhancers	Duodenum Mucosa	Duodenum
19	chr7:99317400-99318800	Enhancers	Fetal Intestine Large	intestine
20	chr7:99317400-99318800	Enhancers	Fetal Intestine Small	intestine
21	chr7:99317400-99318800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr7:99317400-99318800	Enhancers	Stomach Mucosa	stomach
23	chr7:99317400-99319200	Enhancers	Dnd41	blood
24	chr7:99317400-99320600	Enhancers	Fetal Lung	lung
25	chr7:99317600-99318200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:99317600-99318200	Enhancers	K562	blood
27	chr7:99317600-99318400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr7:99317600-99320600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr7:99317800-99318200	Active TSS	Liver	Liver
30	chr7:99317800-99318800	Enhancers	Adipose Nuclei	Adipose
31	chr7:99317800-99318800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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