Variant report

Variant	rs78213340
Chromosome Location	chr4:106819613-106819614
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	FOXA1	chr4:106819441-106819766	T-47D	breast:	n/a	n/a
2	HNF4A	chr4:106819441-106819749	HepG2	liver:	n/a	chr4:106819642-106819655 chr4:106819642-106819655
3	GATA3	chr4:106819366-106819763	T-47D	breast:	n/a	chr4:106819423-106819434
4	HNF4A	chr4:106819484-106819714	HepG2	liver:	n/a	chr4:106819642-106819655 chr4:106819642-106819655
5	JUND	chr4:106819321-106819748	HepG2	liver:	n/a	n/a
6	FOXA1	chr4:106819414-106819810	T-47D	breast:	n/a	n/a
7	GATA3	chr4:106819389-106819737	MCF-7	breast:	n/a	chr4:106819423-106819434
8	NFIC	chr4:106819426-106819895	HepG2	liver:	n/a	n/a
9	JUND	chr4:106819428-106819716	T-47D	breast:	n/a	n/a
10	GATA3	chr4:106819091-106819907	MCF-7	breast:	n/a	chr4:106819423-106819434
11	FOXA1	chr4:106819273-106819925	HepG2	liver:	n/a	n/a
12	HDAC2	chr4:106819394-106819778	HepG2	liver:	n/a	n/a
13	FOXA1	chr4:106819368-106819867	HepG2	liver:	n/a	n/a
14	FOXA1	chr4:106819323-106819908	HepG2	liver:	n/a	n/a
15	EP300	chr4:106819430-106819777	HepG2	liver:	n/a	n/a
16	REST	chr4:106819462-106819754	HepG2	liver:	n/a	n/a
17	GATA3	chr4:106819261-106819659	MCF-7	breast:	n/a	chr4:106819423-106819434
18	MYBL2	chr4:106819458-106819818	HepG2	liver:	n/a	n/a
19	GATA3	chr4:106819424-106819733	T-47D	breast:	n/a	n/a
20	MYBL2	chr4:106819339-106819880	HepG2	liver:	n/a	n/a
21	KAP1	chr4:106819159-106819897	HEK293	kidney:	n/a	n/a
22	MBD4	chr4:106819389-106819831	HepG2	liver:	n/a	n/a
23	GATA3	chr4:106819406-106819627	SH-SY5Y	brain:	n/a	chr4:106819423-106819434
24	FOXA2	chr4:106819463-106819784	HepG2	liver:	n/a	n/a
25	NFIC	chr4:106819465-106819794	HepG2	liver:	n/a	n/a
26	GATA2	chr4:106819372-106819668	SH-SY5Y	brain:	n/a	chr4:106819423-106819434
27	GATA3	chr4:106819310-106819787	MCF-7	breast:	n/a	chr4:106819423-106819434
28	FOXA1	chr4:106819312-106819772	HepG2	liver:	n/a	n/a
29	FOXA2	chr4:106819156-106820175	HepG2	liver:	n/a	n/a
30	EP300	chr4:106819535-106819735	HepG2	liver:	n/a	n/a
31	TEAD4	chr4:106819401-106819886	HepG2	liver:	n/a	n/a
32	HNF4G	chr4:106819461-106819758	HepG2	liver:	n/a	chr4:106819641-106819656 chr4:106819642-106819655 chr4:106819642-106819655
33	ARID3A	chr4:106819579-106819746	HepG2	liver:	n/a	n/a
34	RXRA	chr4:106819421-106819703	HepG2	liver:	n/a	chr4:106819642-106819655 chr4:106819642-106819655

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106817938..106820838-chr4:106829455..106833276,3	MCF-7	breast:

Variant related genes	Relation type
INTS12	TF binding region
ENSG00000168743	Chromatin interaction

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	nsv1014993	chr4:106796019-106980727	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2418320	chr4:106819289-106819690	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106818000-106824400	Weak transcription	Small Intestine	intestine
2	chr4:106818000-106844800	Weak transcription	Psoas Muscle	Psoas
3	chr4:106818200-106820200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr4:106818200-106830400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:106819200-106819800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
6	chr4:106819200-106820000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
7	chr4:106819200-106821400	Weak transcription	HSMMtube	muscle
8	chr4:106819200-106836200	Weak transcription	Aorta	Aorta
9	chr4:106819200-106844600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:106819400-106820000	Enhancers	Fetal Intestine Small	intestine
11	chr4:106819400-106820200	Enhancers	GM12878-XiMat	blood
12	chr4:106819400-106820600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr4:106819400-106820800	Enhancers	Pancreas	Pancrea
14	chr4:106819400-106820800	Enhancers	HepG2	liver
15	chr4:106819400-106823400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:106819400-106825400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:106819400-106830600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:106819600-106820000	Enhancers	Fetal Intestine Large	intestine
19	chr4:106819600-106820800	Weak transcription	Fetal Heart	heart

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