Variant report

Variant	rs543693182
Chromosome Location	chr7:99275572-99275573
allele	G/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	HNF4A	chr7:99275210-99275613	HepG2	liver:	n/a	chr7:99275441-99275456 chr7:99275440-99275458 chr7:99275442-99275454 chr7:99275443-99275456 chr7:99275443-99275456
2	NR2F2	chr7:99275193-99275715	HepG2	liver:	n/a	n/a
3	RXRA	chr7:99275183-99275637	HepG2	liver:	n/a	n/a
4	EP300	chr7:99275176-99275674	HepG2	liver:	n/a	chr7:99275226-99275240
5	MYBL2	chr7:99275190-99275696	HepG2	liver:	n/a	n/a
6	BHLHE40	chr7:99275274-99275635	HepG2	liver:	n/a	n/a
7	JUND	chr7:99275286-99275587	HepG2	liver:	n/a	n/a
8	FOXA2	chr7:99274937-99275601	HepG2	liver:	n/a	n/a
9	SP1	chr7:99275122-99275677	HepG2	liver:	n/a	chr7:99275311-99275320
10	FOXA2	chr7:99274978-99275885	HepG2	liver:	n/a	n/a
11	FOSL2	chr7:99275221-99275672	HepG2	liver:	n/a	n/a
12	FOXA1	chr7:99275220-99275648	HepG2	liver:	n/a	n/a
13	HDAC2	chr7:99275150-99275625	HepG2	liver:	n/a	n/a
14	MBD4	chr7:99275177-99275726	HepG2	liver:	n/a	n/a
15	MAX	chr7:99274832-99275783	HepG2	liver:	n/a	n/a
16	FOXA1	chr7:99274954-99275662	HepG2	liver:	n/a	n/a
17	ARID3A	chr7:99275040-99275588	HepG2	liver:	n/a	n/a
18	FOXA1	chr7:99274800-99275682	HepG2	liver:	n/a	n/a
19	NR2F2	chr7:99274980-99275757	HepG2	liver:	n/a	n/a
20	EP300	chr7:99275116-99275682	HepG2	liver:	n/a	chr7:99275226-99275240
21	RXRA	chr7:99275214-99275737	HepG2	liver:	n/a	n/a
22	MYBL2	chr7:99275139-99275681	HepG2	liver:	n/a	n/a
23	FOXA1	chr7:99275041-99275707	HepG2	liver:	n/a	n/a
24	NFIC	chr7:99275217-99275702	HepG2	liver:	n/a	n/a
25	HDAC2	chr7:99275144-99275681	HepG2	liver:	n/a	n/a
26	MAX	chr7:99275082-99275692	HepG2	liver:	n/a	n/a
27	MBD4	chr7:99275114-99275716	HepG2	liver:	n/a	n/a
28	HNF4A	chr7:99275176-99275573	HepG2	liver:	n/a	chr7:99275441-99275456 chr7:99275440-99275458 chr7:99275442-99275454 chr7:99275443-99275456 chr7:99275443-99275456

No.	Distal block	Cell Line	Cell type
1	chr7:99270833..99272685-chr7:99275092..99276816,2	K562	blood:
2	chr7:99275381..99276881-chr7:99296561..99298122,2	MCF-7	breast:
3	chr7:99262294..99263935-chr7:99275134..99276805,2	K562	blood:

Variant related genes	Relation type
CYP3A5	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99235800-99276400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:99243000-99278800	Weak transcription	Brain Angular Gyrus	brain
3	chr7:99243600-99276800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:99251600-99276400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:99255800-99277000	Weak transcription	Fetal Brain Male	brain
6	chr7:99258400-99276400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:99258600-99276600	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:99260200-99277000	Weak transcription	Spleen	Spleen
9	chr7:99260600-99276600	Weak transcription	Adipose Nuclei	Adipose
10	chr7:99260600-99276800	Weak transcription	Left Ventricle	heart
11	chr7:99261400-99277000	Weak transcription	Small Intestine	intestine
12	chr7:99263600-99277400	Weak transcription	Aorta	Aorta
13	chr7:99269000-99276600	Weak transcription	HMEC	breast
14	chr7:99272600-99275600	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:99273000-99276400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:99273000-99276800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:99273200-99276800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:99273400-99277000	Transcr. at gene 5' and 3'	Liver	Liver
19	chr7:99273600-99275600	Genic enhancers	Gastric	stomach
20	chr7:99273800-99276000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
21	chr7:99273800-99290400	Weak transcription	Primary T cells from cord blood	blood
22	chr7:99274400-99276200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
23	chr7:99274400-99276800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:99274600-99275600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
25	chr7:99274600-99275800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
26	chr7:99274600-99276600	Enhancers	K562	blood
27	chr7:99274800-99275800	Genic enhancers	Fetal Lung	lung
28	chr7:99275000-99276400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:99275000-99276600	Weak transcription	NHDF-Ad	bronchial
30	chr7:99275000-99277600	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr7:99275000-99277600	Active TSS	Stomach Mucosa	stomach
32	chr7:99275200-99275600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:99275200-99275600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
34	chr7:99275200-99275600	Weak transcription	A549	lung
35	chr7:99275200-99276000	Flanking Active TSS	Pancreas	Pancrea
36	chr7:99275200-99276600	Active TSS	Rectal Smooth Muscle	rectum
37	chr7:99275400-99275600	Active TSS	Colonic Mucosa	Colon
38	chr7:99275400-99275600	Transcr. at gene 5' and 3'	Esophagus	oesophagus
39	chr7:99275400-99275600	Flanking Active TSS	HepG2	liver
40	chr7:99275400-99276000	Active TSS	Lung	lung
41	chr7:99275400-99277400	Active TSS	Fetal Stomach	stomach
42	chr7:99275400-99277800	Active TSS	Pancreatic Islets	Pancreatic Islet

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