Variant report

Variant	rs607396
Chromosome Location	chr18:7755226-7755227
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	MYBL2	chr18:7754584-7755312	HepG2	liver:	n/a	n/a
2	EP300	chr18:7754652-7755337	HepG2	liver:	n/a	chr18:7755243-7755257
3	HDAC2	chr18:7754679-7755247	HepG2	liver:	n/a	chr18:7755230-7755244 chr18:7755231-7755245
4	MYBL2	chr18:7754509-7755383	HepG2	liver:	n/a	n/a
5	EP300	chr18:7754585-7755262	HepG2	liver:	n/a	chr18:7754627-7754640 chr18:7755243-7755257
6	FOXA1	chr18:7754848-7755431	A549	lung:	n/a	n/a
7	GATA3	chr18:7754579-7755425	A549	lung:	n/a	n/a
8	ARID3A	chr18:7754639-7755251	HepG2	liver:	n/a	n/a
9	HDAC2	chr18:7754676-7755288	HepG2	liver:	n/a	chr18:7755234-7755248 chr18:7755230-7755244 chr18:7755231-7755245
10	NFIC	chr18:7754675-7755262	HepG2	liver:	n/a	n/a
11	SP1	chr18:7754613-7755294	HepG2	liver:	n/a	n/a
12	FOXA2	chr18:7754711-7755420	HepG2	liver:	n/a	n/a
13	FOXA1	chr18:7754713-7755435	A549	lung:	n/a	n/a
14	TEAD4	chr18:7754444-7755330	HepG2	liver:	n/a	chr18:7754818-7754827
15	MXI1	chr18:7754616-7755386	HepG2	liver:	n/a	n/a
16	FOXA1	chr18:7754748-7755363	HepG2	liver:	n/a	n/a
17	SP1	chr18:7754584-7755274	A549	lung:	n/a	n/a
18	GATA3	chr18:7754733-7755289	MCF-7	breast:	n/a	n/a
19	TCF12	chr18:7754317-7755360	A549	lung:	n/a	n/a
20	RXRA	chr18:7754664-7755304	HepG2	liver:	n/a	chr18:7754874-7754887 chr18:7754870-7754890 chr18:7754874-7754887 chr18:7754874-7754887 chr18:7754873-7754882
21	EP300	chr18:7754600-7755307	A549	lung:	n/a	chr18:7754627-7754640 chr18:7755243-7755257
22	FOXA1	chr18:7754657-7755482	HepG2	liver:	n/a	n/a
23	NR3C1	chr18:7754635-7755278	A549	lung:	n/a	chr18:7754682-7754691 chr18:7755089-7755105 chr18:7755089-7755105 chr18:7754681-7754688
24	NR3C1	chr18:7754595-7755271	A549	lung:	n/a	chr18:7754682-7754691 chr18:7755089-7755105 chr18:7755089-7755105 chr18:7754681-7754688
25	SP1	chr18:7754585-7755234	A549	lung:	n/a	n/a
26	FOXA1	chr18:7754679-7755576	HepG2	liver:	n/a	n/a
27	NFIC	chr18:7754609-7755411	HepG2	liver:	n/a	n/a
28	NR3C1	chr18:7754688-7755238	A549	lung:	n/a	chr18:7755089-7755105 chr18:7755089-7755105

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7745866..7749831-chr18:7752461..7755443,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266767	TF binding region
ENSG00000266767	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10502359	0.81[CHD][hapmap]
rs1446077	0.83[CHD][hapmap]
rs1446083	0.90[CHB][hapmap]
rs16952451	0.81[CHD][hapmap]
rs16952467	0.81[CHD][hapmap]
rs4798592	0.83[CHD][hapmap]
rs6506530	0.81[CHD][hapmap]
rs664592	0.82[CHB][hapmap]
rs680780	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7230840	0.81[CHD][hapmap]
rs7232461	0.90[CHB][hapmap]
rs7244983	0.81[CHD][hapmap]
rs9946476	0.90[CHB][hapmap]
rs9953664	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064597	chr18:7169490-7762738	Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv543636	chr18:7169490-7762738	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1064869	chr18:7730116-7760969	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1061538	chr18:7730116-7762149	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1067394	chr18:7730116-7768536	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv2656311	chr18:7732141-7761056	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1057760	chr18:7732188-7760969	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv431970	chr18:7732188-7770950	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv525328	chr18:7732917-7760498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv576421	chr18:7732917-7761056	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv576422	chr18:7732917-7763363	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv576423	chr18:7732917-7788329	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv576424	chr18:7740473-7761056	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv576425	chr18:7747873-7859757	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7748600-7784000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:7749200-7757000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:7750000-7760800	Weak transcription	Fetal Stomach	stomach
4	chr18:7750600-7756200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr18:7750800-7760800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr18:7750800-7764600	Weak transcription	Fetal Muscle Leg	muscle
7	chr18:7751000-7755800	Weak transcription	HUVEC	blood vessel
8	chr18:7751200-7761600	Weak transcription	Aorta	Aorta
9	chr18:7751400-7760600	Weak transcription	Ovary	ovary
10	chr18:7753400-7756600	Flanking Active TSS	A549	lung
11	chr18:7753600-7756000	Flanking Active TSS	HepG2	liver
12	chr18:7753600-7756400	Enhancers	Fetal Intestine Small	intestine
13	chr18:7753600-7757400	Enhancers	Thymus	Thymus
14	chr18:7753800-7756200	Enhancers	Colon Smooth Muscle	Colon
15	chr18:7753800-7756200	Enhancers	Fetal Intestine Large	intestine
16	chr18:7753800-7756400	Enhancers	Adipose Nuclei	Adipose
17	chr18:7753800-7757200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr18:7754000-7757800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:7754200-7755400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:7754200-7756200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr18:7754400-7755400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr18:7754400-7755400	Enhancers	Fetal Kidney	kidney
23	chr18:7754400-7755600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr18:7754400-7755600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:7754400-7755600	Enhancers	Gastric	stomach
26	chr18:7754400-7755600	Enhancers	Left Ventricle	heart
27	chr18:7754400-7755600	Enhancers	Pancreas	Pancrea
28	chr18:7754400-7755600	Enhancers	Right Atrium	heart
29	chr18:7754400-7755600	Enhancers	Right Ventricle	heart
30	chr18:7754400-7755600	Enhancers	Small Intestine	intestine
31	chr18:7754400-7755800	Enhancers	Placenta	Placenta
32	chr18:7754400-7756000	Enhancers	Fetal Thymus	thymus
33	chr18:7754400-7756200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr18:7754400-7758200	Enhancers	Psoas Muscle	Psoas
35	chr18:7754600-7755400	Enhancers	Stomach Smooth Muscle	stomach
36	chr18:7754600-7755600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:7754600-7755600	Enhancers	Lung	lung
38	chr18:7754600-7755800	Enhancers	Fetal Heart	heart
39	chr18:7754600-7756200	Enhancers	Liver	Liver
40	chr18:7754600-7757400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr18:7754800-7766400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr18:7755000-7755400	Enhancers	Rectal Smooth Muscle	rectum
43	chr18:7755000-7755600	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr18:7755000-7757000	Weak transcription	Osteobl	bone
45	chr18:7755000-7760800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr18:7755000-7765800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr18:7755200-7760800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr18:7755200-7760800	Weak transcription	Fetal Lung	lung

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