Variant report

Variant	rs62055074
Chromosome Location	chr16:73084518-73084519
allele	C/T
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	HEY1	chr16:73083970-73085091	HepG2	liver:	n/a	n/a
2	TAF1	chr16:73084473-73084959	H1-neurons	neurons:	n/a	n/a
3	NFIC	chr16:73084156-73084577	HepG2	liver:	n/a	n/a
4	MYBL2	chr16:73083981-73085098	HepG2	liver:	n/a	n/a
5	ZEB1	chr16:73083892-73085088	HepG2	liver:	n/a	n/a
6	SMC3	chr16:73084224-73084590	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:73084065-73085018	HepG2	liver:	n/a	n/a
8	MYBL2	chr16:73084192-73084846	HepG2	liver:	n/a	n/a
9	REST	chr16:73084134-73085035	H1-neurons	neurons:	n/a	chr16:73084142-73084155
10	POLR2A	chr16:73081176-73085549	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr16:73084189-73084943	Hela-S3	cervix:	n/a	n/a
12	TAF1	chr16:73084448-73085037	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr16:73080017-73085654	H1-neurons	neurons:	n/a	n/a
14	REST	chr16:73079663-73097378	H1-neurons	neurons:	n/a	chr16:73084142-73084155 chr16:73087431-73087444 chr16:73082371-73082384 chr16:73091909-73091929 chr16:73082047-73082060 chr16:73097037-73097057 chr16:73088004-73088022 chr16:73091374-73091387 chr16:73091745-73091758 chr16:73096963-73096973 chr16:73091633-73091646 chr16:73091913-73091926 chr16:73097037-73097057 chr16:73081695-73081715 chr16:73091544-73091557 chr16:73096925-73096938 chr16:73097330-73097339
15	TCF12	chr16:73084475-73084954	H1-hESC	embryonic stem cell:	n/a	chr16:73084576-73084586

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:73048726..73050990-chr16:73083446..73086063,2	MCF-7	breast:
2	chr16:73061921..73064545-chr16:73083761..73085497,2	K562	blood:

Variant related genes	Relation type
ZFHX3	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs62055069	0.87[EUR][1000 genomes]
rs62055070	0.87[EUR][1000 genomes]
rs62055071	0.87[EUR][1000 genomes]
rs62055072	0.87[EUR][1000 genomes]
rs62055073	0.87[EUR][1000 genomes]
rs62055075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62055076	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv827730	chr16:73066699-73115642	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv827732	chr16:73069343-73116594	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv827733	chr16:73075114-73103721	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1819498	chr16:73079212-73092845	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73082200-73085200	Enhancers	Fetal Heart	heart
2	chr16:73082400-73085600	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr16:73082600-73084600	Flanking Active TSS	Hela-S3	cervix
4	chr16:73082600-73085400	Enhancers	Pancreas	Pancrea
5	chr16:73082600-73085600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr16:73082600-73086200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:73082600-73087400	Weak transcription	Gastric	stomach
8	chr16:73082600-73090400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr16:73082800-73084800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr16:73082800-73085000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:73082800-73085200	Enhancers	Placenta	Placenta
12	chr16:73082800-73085400	Enhancers	Duodenum Mucosa	Duodenum
13	chr16:73082800-73087200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:73082800-73087400	Enhancers	Fetal Lung	lung
15	chr16:73082800-73089200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr16:73083000-73084600	Weak transcription	Ovary	ovary
17	chr16:73083000-73084600	Enhancers	NHLF	lung
18	chr16:73083000-73085400	Enhancers	Fetal Muscle Trunk	muscle
19	chr16:73083000-73085600	Enhancers	Fetal Intestine Large	intestine
20	chr16:73083000-73085600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr16:73083000-73085800	Enhancers	Fetal Intestine Small	intestine
22	chr16:73083000-73087200	Enhancers	Brain Anterior Caudate	brain
23	chr16:73083000-73087200	Weak transcription	Spleen	Spleen
24	chr16:73083000-73087400	Weak transcription	Esophagus	oesophagus
25	chr16:73083000-73087400	Weak transcription	NHEK	skin
26	chr16:73083000-73087600	Enhancers	Liver	Liver
27	chr16:73083000-73088600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:73083000-73089600	Enhancers	Fetal Muscle Leg	muscle
29	chr16:73083200-73084600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr16:73083200-73084600	Enhancers	Rectal Smooth Muscle	rectum
31	chr16:73083200-73084600	Weak transcription	Small Intestine	intestine
32	chr16:73083200-73085000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
33	chr16:73083200-73086000	Enhancers	Brain Hippocampus Middle	brain
34	chr16:73083200-73086400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:73083200-73086800	Weak transcription	Lung	lung
36	chr16:73083200-73087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:73083200-73087000	Weak transcription	HMEC	breast
38	chr16:73083200-73087200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:73083200-73087200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:73083200-73087200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr16:73083200-73087200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr16:73083200-73087400	Weak transcription	Brain Angular Gyrus	brain
43	chr16:73083200-73087600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:73083200-73088600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr16:73083200-73089600	Enhancers	Fetal Stomach	stomach
46	chr16:73083200-73090600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr16:73083200-73091000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr16:73083400-73084600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr16:73083400-73084600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr16:73083400-73084600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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