Variant report

Variant	rs552484394
Chromosome Location	chr7:99425340-99425341
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	GATA3	chr7:99424524-99426205	MCF-7	breast:	n/a	chr7:99425893-99425904 chr7:99425892-99425900
2	CEBPB	chr7:99424795-99425601	HepG2	liver:	n/a	chr7:99424982-99424993
3	TEAD4	chr7:99424664-99426074	HepG2	liver:	n/a	n/a
4	NFIC	chr7:99424463-99425675	HepG2	liver:	n/a	n/a
5	GATA3	chr7:99424860-99425380	T-47D	breast:	n/a	n/a
6	FOXA1	chr7:99425223-99425353	T-47D	breast:	n/a	n/a
7	FOXA2	chr7:99424696-99426131	HepG2	liver:	n/a	n/a
8	ARID3A	chr7:99424875-99425944	HepG2	liver:	n/a	n/a
9	GATA3	chr7:99424839-99425348	MCF-7	breast:	n/a	n/a
10	FOXA1	chr7:99424737-99425374	A549	lung:	n/a	n/a
11	FOXA1	chr7:99424643-99426060	HepG2	liver:	n/a	n/a
12	FOXA1	chr7:99424643-99426058	HepG2	liver:	n/a	n/a
13	RFX5	chr7:99424968-99425458	Hela-S3	cervix:	n/a	chr7:99425342-99425357
14	STAT3	chr7:99424755-99425516	MCF10A-Er-Src	breast:	n/a	chr7:99424928-99424951
15	MYBL2	chr7:99424540-99425971	HepG2	liver:	n/a	n/a
16	SP1	chr7:99424606-99425671	HepG2	liver:	n/a	n/a
17	RFX5	chr7:99424804-99425724	HepG2	liver:	n/a	chr7:99425342-99425357
18	FOXA1	chr7:99424658-99426061	HepG2	liver:	n/a	n/a
19	GATA3	chr7:99424604-99426143	MCF-7	breast:	n/a	chr7:99425893-99425904 chr7:99425892-99425900
20	JUND	chr7:99424881-99425425	HepG2	liver:	n/a	n/a
21	FOXA1	chr7:99424946-99425390	T-47D	breast:	n/a	n/a
22	MAX	chr7:99424560-99425370	HepG2	liver:	n/a	n/a
23	TCF12	chr7:99424633-99425564	MCF-7	breast:	n/a	chr7:99425435-99425444
24	EP300	chr7:99424635-99425513	HepG2	liver:	n/a	n/a
25	GATA3	chr7:99424925-99425404	T-47D	breast:	n/a	n/a
26	FOXA1	chr7:99424756-99426046	HepG2	liver:	n/a	n/a
27	CEBPB	chr7:99424745-99425340	MCF-7	breast:	n/a	chr7:99424982-99424993
28	EP300	chr7:99424599-99425438	HepG2	liver:	n/a	n/a
29	SIN3AK20	chr7:99424534-99426163	MCF-7	breast:	n/a	n/a
30	HDAC2	chr7:99424690-99425393	MCF-7	breast:	n/a	n/a
31	POLR2A	chr7:99423282-99425951	MCF10A-Er-Src	breast:	n/a	n/a
32	CEBPB	chr7:99424688-99425458	MCF-7	breast:	n/a	chr7:99424982-99424993
33	NR2F2	chr7:99424621-99425916	HepG2	liver:	n/a	n/a
34	TCF7L2	chr7:99424818-99425441	MCF-7	breast:	n/a	n/a
35	RXRA	chr7:99424787-99425456	HepG2	liver:	n/a	n/a
36	NR2F2	chr7:99424795-99425365	MCF-7	breast:	n/a	n/a
37	TCF7L2	chr7:99424765-99425488	HepG2	liver:	n/a	n/a
38	FOS	chr7:99424758-99425359	MCF10A-Er-Src	breast:	n/a	n/a
39	GATA3	chr7:99424943-99425412	MCF-7	breast:	n/a	n/a
40	MYC	chr7:99424726-99425370	MCF10A-Er-Src	breast:	n/a	n/a
41	NR2F2	chr7:99424696-99425480	MCF-7	breast:	n/a	n/a
42	FOXA2	chr7:99424729-99426033	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99213826..99215884-chr7:99424650..99426774,2	MCF-7	breast:

Variant related genes	Relation type
CYP3A43	TF binding region
ENSG00000197037	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827709	chr7:99353500-99440051	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv3402210	chr7:99424936-99425384	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3383358	chr7:99425293-99425703	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 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	chr7:99419400-99432200	Enhancers	Fetal Intestine Small	intestine
2	chr7:99419600-99432000	Enhancers	Fetal Intestine Large	intestine
3	chr7:99421000-99425800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:99421000-99426400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:99422800-99437400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:99423800-99426600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:99424000-99426600	Weak transcription	Adipose Nuclei	Adipose
8	chr7:99424200-99425400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:99424200-99430400	Enhancers	K562	blood
10	chr7:99424400-99426600	Enhancers	Stomach Mucosa	stomach
11	chr7:99424600-99425400	Enhancers	Liver	Liver
12	chr7:99424600-99425400	Enhancers	Hela-S3	cervix
13	chr7:99424600-99426000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:99424600-99429200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:99424800-99426800	Weak transcription	Pancreas	Pancrea
16	chr7:99425200-99426000	Flanking Active TSS	HepG2	liver

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