Variant report

Variant	rs7193530
Chromosome Location	chr16:82730449-82730450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82722552..82724277-chr16:82729529..82732176,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1462044	1.00[AMR][1000 genomes]
rs16957873	1.00[AMR][1000 genomes]
rs55919647	1.00[AMR][1000 genomes]
rs61355622	1.00[AMR][1000 genomes]
rs7189103	1.00[AMR][1000 genomes]
rs7189439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7196302	1.00[AMR][1000 genomes]
rs7202671	1.00[AMR][1000 genomes]
rs73601047	1.00[EUR][1000 genomes]
rs73603152	1.00[AMR][1000 genomes]
rs8044993	1.00[AMR][1000 genomes]
rs8045343	1.00[AMR][1000 genomes]
rs8045359	1.00[AMR][1000 genomes]
rs8045447	1.00[AMR][1000 genomes]
rs8048570	1.00[AMR][1000 genomes]
rs8048858	1.00[AMR][1000 genomes]
rs8049363	1.00[AMR][1000 genomes]
rs8049419	1.00[AMR][1000 genomes]
rs8050851	1.00[AMR][1000 genomes]
rs8054331	1.00[AMR][1000 genomes]
rs8056117	1.00[AMR][1000 genomes]
rs8058705	1.00[AMR][1000 genomes]
rs8059730	1.00[AMR][1000 genomes]
rs8060336	1.00[AMR][1000 genomes]
rs8060604	1.00[AMR][1000 genomes]
rs8060659	1.00[AMR][1000 genomes]
rs8060965	1.00[AMR][1000 genomes]
rs8061413	1.00[AMR][1000 genomes]
rs8063356	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1065896	chr16:82213517-82731994	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1059718	chr16:82564054-82810003	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
8	nsv907023	chr16:82680391-82751932	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA	n/a	inside rSNPs	diseases
9	nsv1065303	chr16:82685793-82758280	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
10	nsv542999	chr16:82685793-82758280	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
11	nsv573379	chr16:82713551-82887631	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
12	nsv907024	chr16:82713874-82768568	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
13	esv2751616	chr16:82714696-82852296	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
14	nsv907025	chr16:82718030-82768568	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
15	nsv1067216	chr16:82719694-82821762	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
16	nsv543000	chr16:82719694-82821762	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82722600-82731600	Weak transcription	Psoas Muscle	Psoas
2	chr16:82725000-82730600	Weak transcription	Aorta	Aorta
3	chr16:82727600-82732800	Weak transcription	NHLF	lung
4	chr16:82728400-82732800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:82728800-82731800	Weak transcription	Right Ventricle	heart
6	chr16:82728800-82731800	Weak transcription	Hela-S3	cervix
7	chr16:82728800-82732000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:82728800-82732000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:82728800-82732200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:82728800-82732200	Weak transcription	NH-A	brain
11	chr16:82728800-82732800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:82728800-82732800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:82728800-82732800	Weak transcription	HMEC	breast
14	chr16:82728800-82732800	Weak transcription	NHEK	skin
15	chr16:82729000-82732800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr16:82729000-82732800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:82729000-82732800	Weak transcription	Colon Smooth Muscle	Colon
18	chr16:82729000-82733000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:82729200-82732000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:82729200-82732000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr16:82729200-82732000	Weak transcription	Left Ventricle	heart
22	chr16:82729200-82732000	Weak transcription	Right Atrium	heart
23	chr16:82729200-82732000	Weak transcription	NHDF-Ad	bronchial
24	chr16:82729200-82732200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr16:82729400-82732000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:82729400-82732000	Weak transcription	HSMMtube	muscle
27	chr16:82729400-82732800	Weak transcription	Osteobl	bone
28	chr16:82729600-82731800	Weak transcription	Fetal Heart	heart
29	chr16:82729600-82732600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:82730400-82732000	Strong transcription	HSMM	muscle

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