Variant report

Variant	rs314341
Chromosome Location	chr7:100392318-100392319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100389809..100393337-chr7:100395699..100399454,7	MCF-7	breast:
2	chr7:100392056..100394261-chr7:100473192..100475486,2	MCF-7	breast:
3	chr7:100372112..100374960-chr7:100391960..100394014,2	MCF-7	breast:
4	chr7:100348273..100350219-chr7:100392224..100395029,2	K562	blood:
5	chr7:100388495..100393030-chr7:100395666..100399292,5	MCF-7	breast:
6	chr7:100389795..100393324-chr7:100420358..100425338,5	MCF-7	breast:
7	chr7:100389206..100395703-chr7:100421517..100425338,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146828	Chromatin interaction
ENSG00000196411	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs144173	0.87[EUR][1000 genomes]
rs1734903	0.85[EUR][1000 genomes]
rs221804	0.89[EUR][1000 genomes]
rs2230585	0.86[EUR][1000 genomes]
rs2406146	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2472559	0.92[EUR][1000 genomes]
rs3134668	0.85[EUR][1000 genomes]
rs314309	0.81[EUR][1000 genomes]
rs314310	0.81[EUR][1000 genomes]
rs314339	0.94[AFR][1000 genomes]
rs314343	0.96[EUR][1000 genomes]
rs314344	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs314347	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs314353	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs314357	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs314358	0.83[EUR][1000 genomes]
rs314359	0.87[EUR][1000 genomes]
rs34361556	0.81[EUR][1000 genomes]
rs482308	0.81[EUR][1000 genomes]
rs531503	0.80[EUR][1000 genomes]
rs539445	0.84[EUR][1000 genomes]
rs540330	0.84[EUR][1000 genomes]
rs542137	0.84[EUR][1000 genomes]
rs559208	0.85[EUR][1000 genomes]
rs570087	0.83[EUR][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	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv888796	chr7:100313420-100423365	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
10	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
11	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100382600-100400800	Weak transcription	Right Atrium	heart
2	chr7:100391200-100393000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:100391400-100392400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:100391400-100392800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:100391400-100392800	Enhancers	HMEC	breast
6	chr7:100391400-100393000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:100391400-100393000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:100391400-100393000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:100391600-100392400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:100391600-100392400	Enhancers	A549	lung
11	chr7:100391600-100393000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:100391600-100393000	Bivalent Enhancer	HepG2	liver
13	chr7:100391600-100393000	Enhancers	NHLF	lung
14	chr7:100391800-100392400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr7:100391800-100392400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:100391800-100392400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:100391800-100392800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:100391800-100392800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:100391800-100393000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:100391800-100393000	Enhancers	HUVEC	blood vessel
21	chr7:100391800-100397200	Weak transcription	Pancreas	Pancrea
22	chr7:100392000-100392400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:100392000-100392400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
24	chr7:100392000-100393000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:100392000-100398600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:100392200-100392400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:100392200-100392600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:100392200-100392600	Enhancers	Hela-S3	cervix
29	chr7:100392200-100392600	Enhancers	NHEK	skin
30	chr7:100392200-100392800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:100392200-100392800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:100392200-100393000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr7:100392200-100393000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:100392200-100394000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:100392200-100396600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:100392200-100397000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:100392200-100397000	Weak transcription	K562	blood
38	chr7:100392200-100398800	Weak transcription	Gastric	stomach
39	chr7:100392200-100399600	Weak transcription	NH-A	brain

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