Variant report

Variant	rs12154919
Chromosome Location	chr7:100115878-100115879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100112807..100116489-chr7:100117677..100120389,3	K562	blood:
2	chr7:100114098..100116911-chr7:100122656..100125319,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11972116	0.89[EUR][1000 genomes]
rs11977607	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978096	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978967	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216707	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406243	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34440977	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56307653	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58509206	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60668677	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60743967	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61309832	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61318457	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67147615	0.85[EUR][1000 genomes]
rs67535650	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970240	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154884	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154887	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154891	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154894	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154895	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154897	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154902	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156207	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156208	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156210	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156211	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711133	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711136	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711137	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784759	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799695	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	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
3	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
4	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
5	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
6	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
7	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
8	nsv527050	chr7:100056166-100125975	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
10	nsv888783	chr7:100073292-100136241	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv518760	chr7:100110324-100119643	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv522427	chr7:100110324-100119643	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100091800-100136200	Weak transcription	Right Atrium	heart
2	chr7:100111400-100116400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr7:100114200-100119000	Weak transcription	A549	lung
4	chr7:100114200-100119200	Weak transcription	K562	blood
5	chr7:100114200-100119400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:100114400-100116200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr7:100114400-100116400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:100114600-100117200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:100114600-100122800	Weak transcription	Stomach Mucosa	stomach
10	chr7:100115400-100117200	Weak transcription	GM12878-XiMat	blood
11	chr7:100115400-100119000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:100115600-100116000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:100115600-100116000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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