Variant report

Variant	rs11634700
Chromosome Location	chr15:30118524-30118525
allele	C/G
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	CEBPB	chr15:30118372-30118670	H1-hESC	embryonic stem cell:	n/a	chr15:30118505-30118516 chr15:30118505-30118514 chr15:30118503-30118516 chr15:30118503-30118516 chr15:30118503-30118514
2	CEBPB	chr15:30118356-30118642	IMR90	lung:	n/a	chr15:30118505-30118516 chr15:30118505-30118514 chr15:30118503-30118516 chr15:30118503-30118516 chr15:30118503-30118514
3	CEBPB	chr15:30118445-30118579	HepG2	liver:	n/a	chr15:30118505-30118516 chr15:30118505-30118514 chr15:30118503-30118516 chr15:30118503-30118516 chr15:30118503-30118514
4	CEBPB	chr15:30118332-30118689	HepG2	liver:	n/a	chr15:30118505-30118516 chr15:30118505-30118514 chr15:30118503-30118516 chr15:30118503-30118516 chr15:30118503-30118514
5	GATA3	chr15:30118443-30118968	SH-SY5Y	brain:	n/a	chr15:30118704-30118715 chr15:30118736-30118746
6	CEBPB	chr15:30118466-30118618	Hela-S3	cervix:	n/a	chr15:30118505-30118516 chr15:30118505-30118514 chr15:30118503-30118516 chr15:30118503-30118516 chr15:30118503-30118514
7	CEBPB	chr15:30118357-30118691	A549	lung:	n/a	chr15:30118505-30118516 chr15:30118505-30118514 chr15:30118503-30118516 chr15:30118503-30118516 chr15:30118503-30118514
8	CEBPB	chr15:30118357-30118682	K562	blood:	n/a	chr15:30118505-30118516 chr15:30118505-30118514 chr15:30118503-30118516 chr15:30118503-30118516 chr15:30118503-30118514

No.	Distal block	Cell Line	Cell type
1	chr15:30117277..30119104-chr15:30123293..30126134,3	MCF-7	breast:
2	chr15:30113090..30115260-chr15:30117657..30120039,3	MCF-7	breast:
3	chr15:30116855..30119130-chr15:30151022..30153262,2	K562	blood:

Variant related genes	Relation type
TJP1	TF binding region
ENSG00000104067	Chromatin interaction
ENSG00000259523	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11632546	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632848	0.85[EUR][1000 genomes]
rs11633069	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11637683	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638797	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901062	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16955758	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1719031	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1851520	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs260526	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41280056	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45449102	0.83[ASN][1000 genomes]
rs45474401	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45478093	0.83[ASN][1000 genomes]
rs45505092	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45537235	0.83[ASN][1000 genomes]
rs45583033	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55845402	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56307541	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719046	1.00[ASN][1000 genomes]
rs72719047	1.00[ASN][1000 genomes]
rs72719058	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719067	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719069	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719076	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785444	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785445	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv832945	chr15:29932599-30123721	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	25 gene(s)	inside rSNPs	diseases
9	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv1851951	chr15:30043659-30178871	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv1845759	chr15:30097078-30142373	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30115400-30119400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:30115400-30121000	Weak transcription	Lung	lung
3	chr15:30115600-30118600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr15:30115600-30118800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:30115600-30119000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:30115600-30119000	Weak transcription	Brain Angular Gyrus	brain
7	chr15:30115600-30119000	Weak transcription	Left Ventricle	heart
8	chr15:30115600-30119000	Weak transcription	Right Atrium	heart
9	chr15:30115600-30119200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr15:30115600-30119600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:30115600-30124400	Weak transcription	Spleen	Spleen
12	chr15:30115600-30127200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:30115600-30132800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:30115600-30136000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:30115800-30118800	Weak transcription	Brain Hippocampus Middle	brain
16	chr15:30115800-30119000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:30115800-30119200	Weak transcription	Brain Anterior Caudate	brain
18	chr15:30115800-30119200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr15:30115800-30119400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:30115800-30119600	Weak transcription	Adipose Nuclei	Adipose
21	chr15:30115800-30119800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr15:30116000-30118800	Weak transcription	Brain Substantia Nigra	brain
23	chr15:30116000-30118800	Weak transcription	Fetal Heart	heart
24	chr15:30116000-30118800	Weak transcription	Placenta	Placenta
25	chr15:30116000-30121000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:30116200-30119000	Weak transcription	Right Ventricle	heart
27	chr15:30116400-30118600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr15:30116400-30119200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr15:30116600-30118800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr15:30116600-30119200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:30116800-30119400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:30117400-30118800	Enhancers	Fetal Lung	lung
33	chr15:30117400-30119000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:30117800-30118800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr15:30117800-30119000	Weak transcription	NHLF	lung
36	chr15:30117800-30119400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:30118000-30118600	Enhancers	Primary T cells from cord blood	blood
38	chr15:30118000-30118600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
39	chr15:30118000-30119400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:30118000-30123800	Weak transcription	A549	lung
41	chr15:30118400-30118600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr15:30118400-30119600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
43	chr15:30118400-30119600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
44	chr15:30118400-30119800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr15:30118400-30119800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood

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