Variant report

Variant	rs55706726
Chromosome Location	chr7:128075476-128075477
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr7:128074384-128075815	MCF-7	breast:	n/a	n/a
2	EP300	chr7:128075295-128075708	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:128075057-128075772	PANC-1	pancreas:	n/a	n/a
4	TCF12	chr7:128074498-128075780	A549	lung:	n/a	chr7:128075361-128075369
5	SP1	chr7:128075240-128075678	HepG2	liver:	n/a	chr7:128075314-128075323 chr7:128075324-128075336 chr7:128075321-128075335 chr7:128075325-128075334 chr7:128075313-128075325
6	SIN3AK20	chr7:128075368-128075695	A549	lung:	n/a	n/a
7	FOXA1	chr7:128075266-128075798	HepG2	liver:	n/a	n/a
8	JUND	chr7:128074659-128075743	T-47D	breast:	n/a	chr7:128074746-128074757
9	CEBPB	chr7:128075342-128075826	MCF-7	breast:	n/a	n/a
10	CREB1	chr7:128075376-128075639	A549	lung:	n/a	n/a
11	EP300	chr7:128074691-128075810	T-47D	breast:	n/a	n/a
12	ESR1	chr7:128075353-128075698	T-47D	breast:	n/a	n/a
13	ZBTB33	chr7:128075336-128075745	A549	lung:	n/a	n/a
14	FOXA2	chr7:128075329-128075698	HepG2	liver:	n/a	n/a
15	SIX5	chr7:128074435-128075970	A549	lung:	n/a	n/a
16	MAX	chr7:128074349-128075821	A549	lung:	n/a	n/a
17	REST	chr7:128075321-128075681	A549	lung:	n/a	n/a
18	NR3C1	chr7:128074890-128075739	A549	lung:	n/a	chr7:128075318-128075331
19	GATA3	chr7:128074500-128075696	T-47D	breast:	n/a	n/a
20	NR3C1	chr7:128074894-128075720	A549	lung:	n/a	chr7:128075318-128075331
21	EP300	chr7:128075305-128075708	HepG2	liver:	n/a	n/a
22	ZBTB33	chr7:128075269-128075724	A549	lung:	n/a	n/a
23	REST	chr7:128075330-128075801	PANC-1	pancreas:	n/a	n/a
24	BCL3	chr7:128074325-128075776	A549	lung:	n/a	n/a
25	ATF3	chr7:128074349-128075853	A549	lung:	n/a	n/a
26	EP300	chr7:128075339-128075716	MCF-7	breast:	n/a	n/a
27	TEAD4	chr7:128074463-128075844	A549	lung:	n/a	n/a
28	FOXA1	chr7:128074870-128075735	T-47D	breast:	n/a	n/a
29	JUND	chr7:128074882-128075753	T-47D	breast:	n/a	n/a
30	BCL3	chr7:128074365-128075878	A549	lung:	n/a	n/a
31	ATF3	chr7:128075272-128075745	A549	lung:	n/a	n/a
32	FOXA2	chr7:128074383-128075892	A549	lung:	n/a	n/a
33	ESR1	chr7:128074841-128075676	T-47D	breast:	n/a	n/a
34	FOXA2	chr7:128075105-128075829	HepG2	liver:	n/a	n/a
35	CEBPB	chr7:128075262-128075792	A549	lung:	n/a	n/a
36	EP300	chr7:128075316-128075739	MCF-7	breast:	n/a	n/a
37	GATA3	chr7:128074738-128075739	T-47D	breast:	n/a	n/a
38	POLR2A	chr7:128074910-128075798	PANC-1	pancreas:	n/a	n/a
39	GATA3	chr7:128074372-128075752	A549	lung:	n/a	n/a
40	MAX	chr7:128074306-128075877	A549	lung:	n/a	n/a
41	HDAC2	chr7:128075310-128075715	HepG2	liver:	n/a	n/a
42	NR3C1	chr7:128074978-128075650	A549	lung:	n/a	chr7:128075318-128075331
43	REST	chr7:128075373-128075631	PANC-1	pancreas:	n/a	n/a
44	SIN3AK20	chr7:128074433-128075739	MCF-7	breast:	n/a	n/a
45	TEAD4	chr7:128074452-128075766	A549	lung:	n/a	n/a
46	FOXA1	chr7:128075195-128075779	HepG2	liver:	n/a	n/a
47	GATA3	chr7:128074331-128075738	MCF-7	breast:	n/a	n/a
48	RCOR1	chr7:128075400-128075600	HepG2	liver:	n/a	n/a
49	EP300	chr7:128075413-128075639	HepG2	liver:	n/a	n/a
50	NR3C1	chr7:128074932-128075696	A549	lung:	n/a	chr7:128075318-128075331

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128075023..128077569-chr7:128095918..128098804,2	K562	blood:
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:

No data

Variant related genes	Relation type
ENSG00000228700	TF binding region
ENSG00000135245	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000238590	Chromatin interaction
ENSG00000106348	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1048531	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10954185	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11763326	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11764599	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11766743	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11769087	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11769168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771063	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11771514	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12532613	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12540060	0.82[AMR][1000 genomes]
rs12540762	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288550	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2288554	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35501542	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3793164	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57124454	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57715170	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58727049	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481099	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62481100	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62481103	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62481115	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481116	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
2	chr7:128071800-128078600	Weak transcription	Adipose Nuclei	Adipose
3	chr7:128072600-128076200	Enhancers	HepG2	liver
4	chr7:128073800-128083800	Weak transcription	Esophagus	oesophagus
5	chr7:128074400-128075600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:128074400-128076000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:128074600-128075600	Active TSS	A549	lung
8	chr7:128074600-128076400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:128074800-128075600	Weak transcription	Placenta	Placenta
10	chr7:128074800-128075800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:128074800-128076000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:128075000-128075600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:128075000-128075600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:128075000-128075600	Enhancers	NHEK	skin
15	chr7:128075000-128075800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr7:128075000-128075800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:128075000-128075800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:128075000-128076000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:128075000-128076400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:128075000-128076400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:128075000-128076600	Enhancers	Fetal Lung	lung
22	chr7:128075400-128075600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:128075400-128075600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:128075400-128075600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr7:128075400-128075600	Enhancers	Pancreas	Pancrea
26	chr7:128075400-128076000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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