Variant report

Variant	rs314339
Chromosome Location	chr7:100391581-100391582
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	chr7:100385743..100388426-chr7:100389540..100391819,2	K562	blood:
3	chr7:100388495..100393030-chr7:100395666..100399292,5	MCF-7	breast:
4	chr7:100201801..100204247-chr7:100389860..100391820,2	K562	blood:
5	chr7:100389795..100393324-chr7:100420358..100425338,5	MCF-7	breast:
6	chr7:100389206..100395703-chr7:100421517..100425338,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196411	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000224729	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs160602	0.95[EUR][1000 genomes]
rs17147735	1.00[JPT][hapmap]
rs17147750	1.00[JPT][hapmap]
rs221805	0.95[EUR][1000 genomes]
rs2734880	0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs314298	0.85[EUR][1000 genomes]
rs314300	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs314304	0.95[EUR][1000 genomes]
rs314305	0.96[EUR][1000 genomes]
rs314306	0.95[EUR][1000 genomes]
rs314308	1.00[CHB][hapmap]
rs314319	0.80[EUR][1000 genomes]
rs314320	0.96[CEU][hapmap]
rs314334	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs314335	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs314336	0.96[EUR][1000 genomes]
rs314337	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs314341	0.94[AFR][1000 genomes]
rs314342	0.82[AMR][1000 genomes]
rs314344	0.97[YRI][hapmap];0.94[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs314345	0.96[EUR][1000 genomes]
rs314346	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs314347	0.82[ASN][1000 genomes]
rs314360	0.87[EUR][1000 genomes]
rs314361	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs314364	0.86[EUR][1000 genomes]
rs314365	0.87[EUR][1000 genomes]
rs314366	0.86[EUR][1000 genomes]
rs7808101	1.00[JPT][hapmap]

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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100382600-100391600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:100382600-100400800	Weak transcription	Right Atrium	heart
3	chr7:100382800-100391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:100387000-100391800	Weak transcription	Fetal Intestine Small	intestine
5	chr7:100389200-100391800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:100390000-100391600	Weak transcription	Placenta	Placenta
7	chr7:100390200-100392000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:100390600-100392000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:100391200-100391800	Enhancers	Pancreas	Pancrea
10	chr7:100391200-100393000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:100391400-100391600	Enhancers	Hela-S3	cervix
12	chr7:100391400-100391800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:100391400-100392200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:100391400-100392200	Enhancers	Esophagus	oesophagus
15	chr7:100391400-100392200	Enhancers	Gastric	stomach
16	chr7:100391400-100392400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:100391400-100392800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:100391400-100392800	Enhancers	HMEC	breast
19	chr7:100391400-100393000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:100391400-100393000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:100391400-100393000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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