Variant report

Variant	rs72792138
Chromosome Location	chr16:83027905-83027906
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:83027820-83027970	GM12864	blood:	n/a	n/a
2	REST	chr16:83027878-83028212	H1-hESC	embryonic stem cell:	n/a	chr16:83028078-83028087
3	REST	chr16:83027866-83028205	H1-hESC	embryonic stem cell:	n/a	chr16:83028078-83028087

Variant related genes	Relation type
ENSG00000260832	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs72792140	0.95[AFR][1000 genomes]
rs72792141	0.95[AFR][1000 genomes]
rs72792142	0.84[AFR][1000 genomes]
rs72792143	0.97[AFR][1000 genomes]
rs72792145	0.85[AFR][1000 genomes]
rs72792160	0.83[AFR][1000 genomes]
rs72794137	0.82[AFR][1000 genomes]
rs72794141	0.82[AFR][1000 genomes]
rs72794153	0.83[AFR][1000 genomes]
rs72794156	0.82[AFR][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	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
2	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
3	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
4	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv907029	chr16:82951179-83044665	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv907030	chr16:82959437-83044665	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1056005	chr16:82987872-83055420	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1055246	chr16:82988025-83056132	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1064172	chr16:82988932-83046695	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv522570	chr16:82988977-83044665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv573383	chr16:82988977-83044665	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv573384	chr16:82994130-83044665	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82989800-83029600	Weak transcription	HMEC	breast
2	chr16:83009000-83029400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:83014800-83030400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:83017800-83028800	Weak transcription	Left Ventricle	heart
5	chr16:83019600-83029600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:83021600-83029400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:83021600-83035200	Weak transcription	Psoas Muscle	Psoas
8	chr16:83021800-83028800	Weak transcription	NHDF-Ad	bronchial
9	chr16:83021800-83029000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:83021800-83029200	Weak transcription	NHEK	skin
11	chr16:83021800-83035000	Weak transcription	Aorta	Aorta
12	chr16:83024000-83029200	Weak transcription	Osteobl	bone
13	chr16:83024200-83028200	Weak transcription	HUVEC	blood vessel
14	chr16:83024200-83028600	Weak transcription	NH-A	brain
15	chr16:83024200-83029400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:83024200-83029600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:83024200-83030400	Enhancers	Fetal Intestine Small	intestine
18	chr16:83024400-83029200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:83024400-83029400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:83024400-83029800	Enhancers	Fetal Intestine Large	intestine
21	chr16:83025800-83028800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr16:83026400-83029000	Enhancers	Duodenum Mucosa	Duodenum
23	chr16:83027000-83028600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr16:83027200-83028200	Enhancers	Fetal Muscle Leg	muscle
25	chr16:83027400-83028000	Enhancers	HSMMtube	muscle
26	chr16:83027400-83028200	Enhancers	HSMM	muscle
27	chr16:83027800-83028400	Weak transcription	Small Intestine	intestine
28	chr16:83027800-83028800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr16:83027800-83028800	Weak transcription	Right Ventricle	heart

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