Variant report

Variant	rs193104250
Chromosome Location	chr7:128074562-128074563
allele	A/C
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	CREB1	chr7:128074490-128074796	A549	lung:	n/a	n/a
2	FOSL2	chr7:128074392-128075211	MCF-7	breast:	n/a	n/a
3	MAFF	chr7:128074429-128074782	HepG2	liver:	n/a	chr7:128074592-128074610
4	NR2F2	chr7:128074384-128075815	MCF-7	breast:	n/a	n/a
5	TCF12	chr7:128074498-128075780	A549	lung:	n/a	chr7:128075361-128075369
6	FOXA1	chr7:128074452-128074903	HepG2	liver:	n/a	n/a
7	MAFK	chr7:128074457-128074768	HepG2	liver:	n/a	chr7:128074594-128074609
8	FOXA1	chr7:128074458-128074993	HepG2	liver:	n/a	n/a
9	MAFK	chr7:128074419-128074787	HepG2	liver:	n/a	chr7:128074594-128074609
10	SIX5	chr7:128074435-128075970	A549	lung:	n/a	n/a
11	MAX	chr7:128074349-128075821	A549	lung:	n/a	n/a
12	FOSL2	chr7:128074554-128074849	HepG2	liver:	n/a	n/a
13	EP300	chr7:128074489-128074890	HepG2	liver:	n/a	n/a
14	GATA3	chr7:128074500-128075696	T-47D	breast:	n/a	n/a
15	CEBPB	chr7:128074466-128074836	A549	lung:	n/a	chr7:128074649-128074660
16	FOXA1	chr7:128074419-128074929	HepG2	liver:	n/a	n/a
17	BCL3	chr7:128074325-128075776	A549	lung:	n/a	n/a
18	ATF3	chr7:128074349-128075853	A549	lung:	n/a	n/a
19	TEAD4	chr7:128074463-128075844	A549	lung:	n/a	n/a
20	JUND	chr7:128074521-128075327	MCF-7	breast:	n/a	chr7:128074746-128074757
21	ARID3A	chr7:128074554-128075237	HepG2	liver:	n/a	n/a
22	BCL3	chr7:128074365-128075878	A549	lung:	n/a	n/a
23	JUND	chr7:128074547-128074854	HepG2	liver:	n/a	chr7:128074746-128074757
24	FOXA2	chr7:128074383-128075892	A549	lung:	n/a	n/a
25	FOXA2	chr7:128074513-128074881	HepG2	liver:	n/a	n/a
26	FOSL2	chr7:128074428-128075111	A549	lung:	n/a	n/a
27	JUND	chr7:128074544-128074853	A549	lung:	n/a	chr7:128074746-128074757
28	GATA3	chr7:128074372-128075752	A549	lung:	n/a	n/a
29	MAX	chr7:128074306-128075877	A549	lung:	n/a	n/a
30	SIN3AK20	chr7:128074433-128075739	MCF-7	breast:	n/a	n/a
31	TEAD4	chr7:128074452-128075766	A549	lung:	n/a	n/a
32	NR3C1	chr7:128074374-128074817	A549	lung:	n/a	n/a
33	CEBPB	chr7:128074403-128074878	A549	lung:	n/a	chr7:128074649-128074660
34	NR3C1	chr7:128074294-128074845	A549	lung:	n/a	n/a
35	GATA3	chr7:128074331-128075738	MCF-7	breast:	n/a	n/a
36	FOXA1	chr7:128074528-128074821	HepG2	liver:	n/a	n/a
37	NR2F2	chr7:128074338-128075619	MCF-7	breast:	n/a	n/a
38	FOSL2	chr7:128074422-128074857	HepG2	liver:	n/a	n/a
39	CEBPB	chr7:128074311-128075895	A549	lung:	n/a	chr7:128074649-128074660
40	NR3C1	chr7:128074292-128074851	A549	lung:	n/a	n/a
41	GATA3	chr7:128074236-128076018	A549	lung:	n/a	n/a
42	NR3C1	chr7:128074449-128074821	A549	lung:	n/a	n/a
43	FOXA1	chr7:128074524-128074817	T-47D	breast:	n/a	n/a
44	ETS1	chr7:128074460-128074887	A549	lung:	n/a	n/a
45	SP1	chr7:128074304-128075968	A549	lung:	n/a	chr7:128075314-128075323 chr7:128075324-128075336 chr7:128075321-128075335 chr7:128075325-128075334 chr7:128074892-128074913 chr7:128075313-128075325
46	CEBPB	chr7:128074511-128074788	HepG2	liver:	n/a	chr7:128074649-128074660
47	SP1	chr7:128074303-128075871	A549	lung:	n/a	chr7:128075314-128075323 chr7:128075324-128075336 chr7:128075321-128075335 chr7:128075325-128075334 chr7:128074892-128074913 chr7:128075313-128075325
48	FOSL2	chr7:128074347-128075916	A549	lung:	n/a	n/a
49	HDAC2	chr7:128074384-128075754	MCF-7	breast:	n/a	chr7:128074709-128074718
50	CEBPB	chr7:128074510-128074832	HepG2	liver:	n/a	chr7:128074649-128074660

No.	Distal block	Cell Line	Cell type
1	chr7:128047282..128051646-chr7:128071407..128074955,4	MCF-7	breast:
2	chr7:128066083..128070069-chr7:128074107..128077404,7	MCF-7	breast:
3	chr7:128074510..128075893-chr7:128101137..128102142,3	MCF-7	breast:
4	chr7:128073893..128075485-chr7:128078567..128080438,2	K562	blood:
5	chr7:128066135..128077193-chr7:128094256..128102719,54	MCF-7	breast:
6	chr7:128045089..128046759-chr7:128073857..128075497,2	MCF-7	breast:
7	chr7:128071934..128079559-chr7:128081793..128086197,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228700	TF binding region
ENSG00000273184	Chromatin interaction
ENSG00000238590	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000135245	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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv1801356	chr7:128073366-128084133	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
2	chr7:128070200-128074800	Enhancers	Placenta	Placenta
3	chr7:128071200-128074800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:128071800-128078600	Weak transcription	Adipose Nuclei	Adipose
5	chr7:128072200-128074600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:128072200-128075000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:128072400-128075400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:128072600-128074800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:128072600-128075000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:128072600-128075400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:128072600-128076200	Enhancers	HepG2	liver
12	chr7:128072800-128075000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:128072800-128075000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:128073000-128075000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:128073000-128075000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:128073200-128074800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:128073600-128074600	Flanking Active TSS	A549	lung
18	chr7:128073800-128083800	Weak transcription	Esophagus	oesophagus
19	chr7:128074000-128075000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:128074400-128075600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:128074400-128076000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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