Variant report

Variant	rs66758829
Chromosome Location	chr7:116590230-116590231
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr7:116590027-116590447	K562	blood:	n/a	n/a
2	IRF1	chr7:116590076-116590389	K562	blood:	n/a	n/a
3	POLR2A	chr7:116590204-116590467	K562	blood:	n/a	n/a
4	TBP	chr7:116590077-116590436	K562	blood:	n/a	n/a
5	EP300	chr7:116590043-116590529	K562	blood:	n/a	n/a
6	CEBPD	chr7:116589989-116590557	K562	blood:	n/a	n/a
7	SPI1	chr7:116590144-116590432	K562	blood:	n/a	n/a
8	TBL1XR1	chr7:116590083-116590453	K562	blood:	n/a	n/a
9	GATA2	chr7:116590036-116590433	K562	blood:	n/a	n/a
10	CEBPD	chr7:116590127-116590817	K562	blood:	n/a	n/a
11	POLR2A	chr7:116590041-116590377	K562	blood:	n/a	n/a
12	GATA2	chr7:116590007-116590496	K562	blood:	n/a	n/a
13	CBX3	chr7:116589631-116590520	K562	blood:	n/a	n/a
14	MAX	chr7:116590131-116590428	K562	blood:	n/a	n/a
15	GATA1	chr7:116589877-116590615	PBDE	blood:	n/a	n/a
16	JUN	chr7:116590077-116590423	K562	blood:	n/a	n/a
17	EGR1	chr7:116590161-116590490	K562	blood:	n/a	n/a
18	TEAD4	chr7:116589641-116590588	K562	blood:	n/a	n/a
19	MAX	chr7:116590110-116590432	K562	blood:	n/a	n/a
20	REST	chr7:116590149-116590382	K562	blood:	n/a	n/a
21	POLR2A	chr7:116590040-116590538	K562	blood:	n/a	n/a
22	CEBPB	chr7:116590087-116590296	K562	blood:	n/a	n/a
23	PML	chr7:116590036-116590514	K562	blood:	n/a	n/a
24	CHD2	chr7:116590196-116590386	K562	blood:	n/a	n/a
25	GTF2F1	chr7:116590204-116590322	K562	blood:	n/a	n/a
26	HDAC2	chr7:116590040-116590518	K562	blood:	n/a	n/a
27	GATA1	chr7:116590098-116590454	K562	blood:	n/a	n/a
28	TAL1	chr7:116590058-116590479	K562	blood:	n/a	n/a
29	RCOR1	chr7:116589728-116590435	K562	blood:	n/a	n/a
30	NR2F2	chr7:116590063-116590464	K562	blood:	n/a	n/a
31	SPI1	chr7:116590180-116590484	K562	blood:	n/a	n/a
32	TEAD4	chr7:116590031-116590572	K562	blood:	n/a	n/a
33	HMGN3	chr7:116590152-116590375	K562	blood:	n/a	n/a
34	ATF3	chr7:116590033-116590480	K562	blood:	n/a	n/a
35	POLR2A	chr7:116590069-116590402	K562	blood:	n/a	n/a
36	MYC	chr7:116590102-116590470	K562	blood:	n/a	n/a
37	FOSL1	chr7:116590120-116590446	K562	blood:	n/a	n/a
38	UBTF	chr7:116590092-116590460	K562	blood:	n/a	n/a
39	SIN3AK20	chr7:116590113-116590456	K562	blood:	n/a	n/a
40	HCFC1	chr7:116590211-116590447	K562	blood:	n/a	n/a
41	ARID3A	chr7:116590161-116590410	K562	blood:	n/a	n/a
42	PML	chr7:116590032-116590500	K562	blood:	n/a	n/a
43	CCNT2	chr7:116590116-116590391	K562	blood:	n/a	n/a
44	ATF3	chr7:116590142-116590374	K562	blood:	n/a	n/a
45	JUN	chr7:116588540-116596631	K562	blood:	n/a	chr7:116591120-116591128 chr7:116591120-116591127 chr7:116596122-116596134 chr7:116596020-116596032 chr7:116596225-116596237 chr7:116591120-116591128
46	JUN	chr7:116590089-116590424	K562	blood:	n/a	n/a
47	RCOR1	chr7:116589743-116590469	K562	blood:	n/a	n/a
48	ZNF384	chr7:116589780-116590489	K562	blood:	n/a	n/a
49	POLR2A	chr7:116590142-116590413	K562	blood:	n/a	n/a
50	HDAC2	chr7:116590041-116590501	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:116589849..116592788-chr7:116643834..116645467,2	K562	blood:
2	chr7:116589852..116592441-chr7:116629486..116632404,2	K562	blood:
3	chr7:116589933..116591821-chr7:116618014..116619931,2	K562	blood:
4	chr7:116589752..116591646-chr7:116612238..116614165,2	K562	blood:
5	chr7:116575973..116578063-chr7:116589463..116591221,2	MCF-7	breast:
6	chr7:116589691..116599368-chr7:116647062..116658963,30	K562	blood:

No data

Variant related genes	Relation type
ST7	TF binding region
ST7-OT4	TF binding region
ENSG00000213050	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11762032	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11764134	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11765198	0.91[EUR][1000 genomes]
rs12706124	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12706125	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706127	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12706134	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12706135	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12706136	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12706137	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12706138	1.00[AFR][1000 genomes]
rs12706139	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs13235739	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13239447	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13243111	0.86[EUR][1000 genomes]
rs34042687	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71544773	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv889074	chr7:116552859-116604194	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 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	chr7:116570800-116592800	Weak transcription	Right Atrium	heart
2	chr7:116583000-116591600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:116583000-116593000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:116588600-116590400	Flanking Active TSS	Fetal Heart	heart
5	chr7:116589000-116592800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:116589200-116591000	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:116589200-116592200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:116589400-116592600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:116589400-116592800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:116589600-116590800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:116589600-116591000	Weak transcription	HepG2	liver
12	chr7:116589600-116592800	Weak transcription	Pancreas	Pancrea
13	chr7:116589600-116592800	Weak transcription	Stomach Mucosa	stomach
14	chr7:116589600-116593000	Weak transcription	Gastric	stomach
15	chr7:116590000-116590400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:116590000-116590400	Enhancers	Left Ventricle	heart
17	chr7:116590000-116591000	Enhancers	K562	blood
18	chr7:116590000-116592200	Weak transcription	Fetal Lung	lung
19	chr7:116590000-116592800	Weak transcription	Aorta	Aorta
20	chr7:116590000-116592800	Weak transcription	Right Ventricle	heart
21	chr7:116590200-116591000	Enhancers	Lung	lung

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