Variant report

Variant	rs7695918
Chromosome Location	chr4:143397125-143397126
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr4:143396802-143397266	A549	lung:	n/a	n/a
2	GATA3	chr4:143396883-143397132	MCF-7	breast:	n/a	n/a
3	FOXA2	chr4:143396765-143397238	A549	lung:	n/a	n/a
4	FOS	chr4:143396837-143397217	MCF10A-Er-Src	breast:	n/a	chr4:143397015-143397026
5	ZNF217	chr4:143396800-143397223	MCF-7	breast:	n/a	n/a
6	REST	chr4:143396733-143397263	A549	lung:	n/a	n/a
7	JUND	chr4:143396832-143397216	Hela-S3	cervix:	n/a	n/a
8	NR2F2	chr4:143396790-143397349	MCF-7	breast:	n/a	n/a
9	SIN3AK20	chr4:143396572-143397348	MCF-7	breast:	n/a	n/a
10	GATA3	chr4:143396636-143397421	A549	lung:	n/a	n/a
11	JUND	chr4:143396815-143397177	A549	lung:	n/a	n/a
12	FOSL2	chr4:143396819-143397267	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr4:143396639-143397362	SK-N-SH	brain:	n/a	n/a
14	EP300	chr4:143396765-143397268	MCF-7	breast:	n/a	n/a
15	FOSL2	chr4:143396860-143397197	A549	lung:	n/a	n/a
16	GATA3	chr4:143396719-143397316	A549	lung:	n/a	n/a
17	EP300	chr4:143396553-143397408	A549	lung:	n/a	n/a
18	FOS	chr4:143396837-143397197	MCF10A-Er-Src	breast:	n/a	chr4:143397015-143397026
19	TCF7L2	chr4:143396699-143397173	MCF-7	breast:	n/a	chr4:143396899-143396913
20	JUND	chr4:143396688-143397302	MCF-7	breast:	n/a	n/a
21	EP300	chr4:143396736-143397268	T-47D	breast:	n/a	n/a
22	POLR2A	chr4:143397067-143397197	MCF10A-Er-Src	breast:	n/a	n/a
23	GATA3	chr4:143396788-143397309	SK-N-SH	brain:	n/a	n/a
24	FOS	chr4:143396804-143397189	HUVEC	blood vessel:	n/a	chr4:143397015-143397026
25	FOXM1	chr4:143396564-143397407	MCF-7	breast:	n/a	n/a
26	CEBPB	chr4:143396796-143397243	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr4:143396744-143397298	MCF-7	breast:	n/a	n/a
28	SP1	chr4:143396653-143397269	A549	lung:	n/a	n/a
29	SP1	chr4:143396711-143397259	A549	lung:	n/a	n/a
30	JUND	chr4:143396695-143397352	SK-N-SH	brain:	n/a	n/a
31	FOSL2	chr4:143396773-143397267	MCF-7	breast:	n/a	n/a
32	EP300	chr4:143396743-143397254	Hela-S3	cervix:	n/a	n/a
33	EP300	chr4:143396757-143397321	MCF-7	breast:	n/a	n/a
34	CEBPB	chr4:143396888-143397156	A549	lung:	n/a	n/a
35	FOS	chr4:143396851-143397212	MCF10A-Er-Src	breast:	n/a	chr4:143397015-143397026
36	FOS	chr4:143396856-143397206	MCF10A-Er-Src	breast:	n/a	chr4:143397015-143397026
37	CEBPB	chr4:143396780-143397264	MCF-7	breast:	n/a	n/a
38	FOSL1	chr4:143396723-143397230	HCT-116	colon:	n/a	n/a
39	NR2F2	chr4:143396710-143397230	MCF-7	breast:	n/a	n/a
40	EP300	chr4:143396749-143397300	A549	lung:	n/a	n/a
41	FOSL2	chr4:143396710-143397250	MCF-7	breast:	n/a	n/a
42	CEBPB	chr4:143396826-143397270	A549	lung:	n/a	n/a
43	CEBPB	chr4:143396744-143397325	A549	lung:	n/a	n/a
44	GATA3	chr4:143396807-143397206	T-47D	breast:	n/a	n/a
45	TCF12	chr4:143396547-143397478	A549	lung:	n/a	n/a
46	GATA3	chr4:143396801-143397173	T-47D	breast:	n/a	n/a
47	FOSL2	chr4:143396685-143397411	A549	lung:	n/a	n/a
48	GATA3	chr4:143396643-143397344	MCF-7	breast:	n/a	n/a
49	FOXA1	chr4:143396790-143397147	T-47D	breast:	n/a	n/a
50	GATA3	chr4:143396608-143397341	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:143392966..143400087-chr4:143764739..143770446,12	MCF-7	breast:
2	chr4:143395685..143398637-chr4:143542900..143544725,2	MCF-7	breast:
3	chr4:143389462..143399452-chr4:143428707..143442488,28	MCF-7	breast:
4	chr4:143351692..143359150-chr4:143392769..143399702,12	MCF-7	breast:
5	chr4:143395976..143397476-chr4:143613237..143615113,2	MCF-7	breast:
6	chr4:143391421..143397876-chr4:143484529..143495051,12	MCF-7	breast:
7	chr4:143395579..143398506-chr4:143758143..143759826,2	MCF-7	breast:

No data

Variant related genes	Relation type
INPP4B	TF binding region
ENSG00000109452	Chromatin interaction
ENSG00000249806	Chromatin interaction
ENSG00000251248	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10008498	0.93[ASN][1000 genomes]
rs10012476	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10015184	0.89[EUR][1000 genomes]
rs10015271	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1013397	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12643136	0.86[CEU][hapmap]
rs12644565	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12646243	0.86[CEU][hapmap]
rs12649139	0.86[CEU][hapmap]
rs1364917	0.86[CEU][hapmap]
rs1364918	0.86[CEU][hapmap]
rs1364919	0.86[CEU][hapmap]
rs1364920	0.86[CEU][hapmap]
rs1364926	0.86[CEU][hapmap]
rs1391099	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs1425534	0.86[CEU][hapmap]
rs1425535	0.86[CEU][hapmap]
rs1425537	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1425538	0.86[CEU][hapmap]
rs1489581	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs17016163	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs17016170	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17016195	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17016207	0.86[CEU][hapmap]
rs17016248	0.86[CEU][hapmap]
rs17016304	0.86[CEU][hapmap]
rs1817970	0.80[ASN][1000 genomes]
rs2322705	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2322706	0.89[EUR][1000 genomes]
rs2322795	0.85[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2874841	0.91[ASN][1000 genomes]
rs28823374	0.91[EUR][1000 genomes]
rs28850298	0.91[EUR][1000 genomes]
rs28861843	0.92[EUR][1000 genomes]
rs34900920	0.91[EUR][1000 genomes]
rs3863128	0.89[ASN][1000 genomes]
rs3913164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3913165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4345256	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4956444	0.89[ASN][1000 genomes]
rs6822263	0.85[CEU][hapmap]
rs7662794	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7668133	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9308151	0.88[ASN][1000 genomes]
rs9308152	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs931637	0.85[CEU][hapmap]
rs979511	1.00[CEU][hapmap]
rs9986090	1.00[CEU][hapmap];0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143369200-143410600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:143371600-143400800	Weak transcription	Aorta	Aorta
3	chr4:143394600-143397200	Enhancers	HMEC	breast
4	chr4:143394800-143397800	Enhancers	Hela-S3	cervix
5	chr4:143395000-143397200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:143395200-143397600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:143395400-143403000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:143396000-143397200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:143396000-143397200	Enhancers	Stomach Mucosa	stomach
10	chr4:143396800-143397200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:143396800-143397200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:143396800-143397200	Active TSS	A549	lung
13	chr4:143396800-143397400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:143396800-143401400	Weak transcription	NH-A	brain
15	chr4:143396800-143406000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr4:143396800-143406800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:143397000-143397200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr4:143397000-143406200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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