Variant report

Variant	rs314368
Chromosome Location	chr7:100448445-100448446
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100026422..100028068-chr7:100447854..100450517,2	K562	blood:
2	chr7:100422826..100425783-chr7:100447402..100452140,5	K562	blood:
3	chr7:100301473..100305247-chr7:100448414..100451828,11	MCF-7	breast:
4	chr7:100448186..100450905-chr7:100471509..100474207,3	K562	blood:
5	chr7:100447367..100452420-chr7:100484839..100489079,9	MCF-7	breast:
6	chr7:100301718..100305707-chr7:100447040..100451705,6	K562	blood:
7	chr7:100271288..100272831-chr7:100448333..100450222,2	MCF-7	breast:
8	chr7:100423433..100426983-chr7:100448013..100452140,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196411	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000176125	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1054391	0.80[ASN][1000 genomes]
rs10953305	0.84[EUR][1000 genomes]
rs12669120	0.89[EUR][1000 genomes]
rs12705094	0.89[EUR][1000 genomes]
rs13226043	0.89[EUR][1000 genomes]
rs3087504	0.89[EUR][1000 genomes]
rs314329	0.81[AMR][1000 genomes]
rs314369	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs314371	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs314372	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs314374	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs314375	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs314376	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs314377	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs314378	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3847063	0.84[EUR][1000 genomes]
rs4727469	0.84[EUR][1000 genomes]
rs4727470	0.84[EUR][1000 genomes]
rs4729615	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4729620	0.81[EUR][1000 genomes]
rs6465776	0.80[ASN][1000 genomes]
rs6942607	0.89[EUR][1000 genomes]
rs6954151	0.89[EUR][1000 genomes]
rs6976053	0.83[EUR][1000 genomes]
rs7783457	0.89[EUR][1000 genomes]
rs7783543	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7801015	0.89[EUR][1000 genomes]
rs7803865	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
12	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer 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
14	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer 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
15	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100435000-100449400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:100435200-100449600	Weak transcription	Right Atrium	heart
3	chr7:100435400-100449200	Weak transcription	NHEK	skin
4	chr7:100435400-100449400	Weak transcription	Primary T cells from cord blood	blood
5	chr7:100435400-100449400	Weak transcription	Fetal Stomach	stomach
6	chr7:100435400-100449400	Weak transcription	A549	lung
7	chr7:100435400-100449600	Weak transcription	Osteobl	bone
8	chr7:100435400-100449800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:100437400-100449200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:100438400-100449400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:100438400-100449400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:100438600-100449400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:100439800-100449400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:100440600-100449400	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:100442800-100449400	Weak transcription	K562	blood
16	chr7:100444600-100449400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:100445000-100449600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:100445200-100449600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:100445400-100449000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:100445400-100449600	Weak transcription	Placenta	Placenta
21	chr7:100445600-100449200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:100448400-100449000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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