Variant report

Variant	rs7500719
Chromosome Location	chr16:30840877-30840878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30838714..30840881-chr16:30843458..30846272,2	MCF-7	breast:
2	chr16:30840375..30842964-chr16:30885119..30888009,2	K562	blood:
3	chr16:30840609..30843295-chr16:30848327..30849905,2	K562	blood:

Variant related genes	Relation type
ENSG00000260083	Chromatin interaction
ENSG00000265991	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11150596	1.00[CHB][hapmap];0.94[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11150599	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11647697	0.84[ASN][1000 genomes]
rs11864054	0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[ASN][1000 genomes]
rs12926237	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12926295	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12929065	0.84[ASN][1000 genomes]
rs12930944	0.84[ASN][1000 genomes]
rs13338946	0.88[ASW][hapmap];0.94[CEU][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap]
rs2125293	0.84[ASN][1000 genomes]
rs2168834	0.84[ASN][1000 genomes]
rs2289442	0.88[ASW][hapmap];0.94[CEU][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap]
rs2335013	0.84[ASN][1000 genomes]
rs28421305	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28853644	0.83[EUR][1000 genomes]
rs35629860	0.89[CEU][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap]
rs3747481	0.94[ASW][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap]
rs3747486	0.89[CEU][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];0.97[TSI][hapmap]
rs3812999	0.94[CEU][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.97[TSI][hapmap]
rs4889490	0.82[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs4889534	0.84[ASN][1000 genomes]
rs4889536	0.84[ASN][1000 genomes]
rs4889614	0.82[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.81[ASN][1000 genomes]
rs4889622	0.84[ASN][1000 genomes]
rs4889627	0.87[ASN][1000 genomes]
rs4889630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4889651	1.00[CHB][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap]
rs4889653	1.00[CHB][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap]
rs6565207	0.85[ASN][1000 genomes]
rs7187359	0.94[CEU][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.97[TSI][hapmap]
rs7197475	0.82[CHD][hapmap];0.85[GIH][hapmap]
rs7198250	0.94[CEU][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap]
rs8046001	1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8046391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8058578	0.88[ASW][hapmap];0.94[CEU][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.97[TSI][hapmap]
rs8058961	0.94[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes]
rs8063565	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs885107	0.88[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.97[TSI][hapmap]
rs9319587	0.95[ASN][1000 genomes]
rs9921835	0.87[EUR][1000 genomes]
rs9925025	0.82[CHD][hapmap];0.85[GIH][hapmap]
rs9932572	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9933843	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs9934249	0.95[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	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' 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	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers 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	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
5	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
6	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
7	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
8	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
9	nsv869652	chr16:30799471-30951038	Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers 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	70 gene(s)	inside rSNPs	diseases
10	nsv1060384	chr16:30802415-30878838	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv1059633	chr16:30803099-30867916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv833189	chr16:30819708-30960795	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30826400-30844800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr16:30832400-30844600	Weak transcription	Ovary	ovary
3	chr16:30836000-30850600	Weak transcription	Esophagus	oesophagus
4	chr16:30836600-30845400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:30837000-30844000	Weak transcription	Gastric	stomach
6	chr16:30837200-30849000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:30839000-30842000	Weak transcription	Fetal Stomach	stomach
8	chr16:30840200-30856400	Weak transcription	Aorta	Aorta
9	chr16:30840400-30841200	Enhancers	Brain Hippocampus Middle	brain
10	chr16:30840400-30841600	Enhancers	Fetal Heart	heart
11	chr16:30840400-30842000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr16:30840600-30841000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:30840600-30841000	Enhancers	Brain Cingulate Gyrus	brain
14	chr16:30840600-30841000	Enhancers	Right Atrium	heart
15	chr16:30840600-30841400	Enhancers	Fetal Muscle Trunk	muscle
16	chr16:30840600-30841400	Enhancers	Left Ventricle	heart
17	chr16:30840600-30841400	Enhancers	Right Ventricle	heart
18	chr16:30840600-30841400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr16:30840600-30841800	Enhancers	Duodenum Mucosa	Duodenum
20	chr16:30840600-30841800	Enhancers	Fetal Muscle Leg	muscle
21	chr16:30840600-30841800	Enhancers	Stomach Mucosa	stomach
22	chr16:30840600-30842000	Enhancers	Fetal Intestine Small	intestine
23	chr16:30840600-30842200	Enhancers	Fetal Intestine Large	intestine
24	chr16:30840600-30844600	Weak transcription	Fetal Brain Female	brain
25	chr16:30840800-30841000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:30840800-30841000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr16:30840800-30841000	Enhancers	Lung	lung
28	chr16:30840800-30841200	Enhancers	Brain Substantia Nigra	brain
29	chr16:30840800-30841200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr16:30840800-30841200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr16:30840800-30841200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr16:30840800-30841200	Enhancers	HSMM	muscle
33	chr16:30840800-30841200	Flanking Active TSS	HSMMtube	muscle
34	chr16:30840800-30842200	Flanking Active TSS	HepG2	liver

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