Variant report

Variant	rs7245699
Chromosome Location	chr19:35999491-35999492
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35996698..35999600-chr19:36003100..36006051,2	MCF-7	breast:
2	chr19:35991484..35996459-chr19:35997926..36003071,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161249	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11084818	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2293700	0.86[MEX][hapmap]
rs4254439	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4358061	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6510492	0.96[CEU][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6510494	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv833811	chr19:35850257-36029535	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv911628	chr19:35999491-36056253	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7245699	CYP2B7P1	cis	cerebellum	SCAN
rs7245699	POU2F2	cis	cerebellum	SCAN
rs7245699	GGN	cis	cerebellum	SCAN
rs7245699	LRFN1	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35986400-35999600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:35986400-36000000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:35986400-36000600	Weak transcription	Right Atrium	heart
4	chr19:35986800-36000200	Weak transcription	Gastric	stomach
5	chr19:35986800-36000400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:35990200-36000400	Weak transcription	Lung	lung
7	chr19:35991000-36000200	Weak transcription	Ovary	ovary
8	chr19:35991200-36000200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:35992200-36000400	Weak transcription	Aorta	Aorta
10	chr19:35993200-35999600	Weak transcription	Brain Anterior Caudate	brain
11	chr19:35993400-36000000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:35993400-36000200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:35996400-35999800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:35997200-36000000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:35997600-35999600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr19:35997600-36000200	Weak transcription	Pancreas	Pancrea
17	chr19:35997800-36000000	Weak transcription	Fetal Intestine Small	intestine
18	chr19:35998200-35999600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:35998200-35999800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:35999000-35999600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:35999000-36000600	Active TSS	GM12878-XiMat	blood
22	chr19:35999200-35999600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:35999200-35999600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
24	chr19:35999200-35999600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
25	chr19:35999200-36000000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:35999200-36000200	Enhancers	HepG2	liver
27	chr19:35999200-36000800	Weak transcription	Esophagus	oesophagus
28	chr19:35999400-35999600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr19:35999400-35999600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr19:35999400-35999600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
31	chr19:35999400-35999600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr19:35999400-35999600	Active TSS	NHEK	skin
33	chr19:35999400-35999800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr19:35999400-35999800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr19:35999400-35999800	Flanking Active TSS	Hela-S3	cervix
36	chr19:35999400-35999800	Flanking Active TSS	HMEC	breast
37	chr19:35999400-36001600	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr19:35999400-36001600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:35999400-36001600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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