Variant report

Variant	rs62055076
Chromosome Location	chr16:73086400-73086401
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	POLR2A	chr16:73085684-73094561	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr16:73086328-73086544	MCF10A-Er-Src	breast:	n/a	n/a
3	CHD1	chr16:73084743-73093728	IMR90	lung:	n/a	chr16:73092049-73092059 chr16:73091379-73091389 chr16:73092358-73092368 chr16:73091670-73091680 chr16:73087450-73087460 chr16:73087960-73087970
4	SP1	chr16:73086350-73086900	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr16:73086390-73087997	IMR90	lung:	n/a	n/a
6	JUND	chr16:73085743-73088117	SK-N-SH	brain:	n/a	chr16:73087751-73087760
7	STAT3	chr16:73086228-73086452	MCF10A-Er-Src	breast:	n/a	chr16:73086310-73086318
8	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

No.	Distal block	Cell Line	Cell type
1	chr16:72902697..72904842-chr16:73086116..73088672,2	MCF-7	breast:
2	chr16:73085960..73092476-chr16:73227779..73233499,9	MCF-7	breast:
3	chr16:72994804..72996648-chr16:73085703..73088128,2	MCF-7	breast:

Variant related genes	Relation type
ZFHX3	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs62055069	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62055070	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62055071	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62055072	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62055073	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62055074	0.90[EUR][1000 genomes]
rs62055075	0.90[EUR][1000 genomes]
rs62055077	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62055081	0.93[AMR][1000 genomes]
rs62055083	0.85[AMR][1000 genomes]
rs62055085	0.85[AMR][1000 genomes]
rs62055087	0.85[AMR][1000 genomes]
rs62055088	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv1815924	chr16:73085286-73105415	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73082600-73087400	Weak transcription	Gastric	stomach
2	chr16:73082600-73090400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr16:73082800-73087200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr16:73082800-73087400	Enhancers	Fetal Lung	lung
5	chr16:73082800-73089200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr16:73083000-73087200	Enhancers	Brain Anterior Caudate	brain
7	chr16:73083000-73087200	Weak transcription	Spleen	Spleen
8	chr16:73083000-73087400	Weak transcription	Esophagus	oesophagus
9	chr16:73083000-73087400	Weak transcription	NHEK	skin
10	chr16:73083000-73087600	Enhancers	Liver	Liver
11	chr16:73083000-73088600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:73083000-73089600	Enhancers	Fetal Muscle Leg	muscle
13	chr16:73083200-73086400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:73083200-73086800	Weak transcription	Lung	lung
15	chr16:73083200-73087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:73083200-73087000	Weak transcription	HMEC	breast
17	chr16:73083200-73087200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:73083200-73087200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:73083200-73087200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr16:73083200-73087200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:73083200-73087400	Weak transcription	Brain Angular Gyrus	brain
22	chr16:73083200-73087600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:73083200-73088600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr16:73083200-73089600	Enhancers	Fetal Stomach	stomach
25	chr16:73083200-73090600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr16:73083200-73091000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr16:73083400-73086600	Weak transcription	Left Ventricle	heart
28	chr16:73083400-73087200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:73083400-73087400	Weak transcription	Adipose Nuclei	Adipose
30	chr16:73083400-73089600	Weak transcription	Right Ventricle	heart
31	chr16:73083600-73086400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:73083600-73086600	Weak transcription	Fetal Kidney	kidney
33	chr16:73083600-73087200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr16:73083800-73086400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:73083800-73087200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr16:73083800-73088600	Weak transcription	GM12878-XiMat	blood
37	chr16:73084200-73086600	Weak transcription	Right Atrium	heart
38	chr16:73084200-73087200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr16:73084200-73087800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:73084400-73086600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr16:73084400-73087200	Enhancers	Osteobl	bone
42	chr16:73084400-73087400	Enhancers	Brain Germinal Matrix	brain
43	chr16:73084400-73087400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr16:73084600-73086600	Enhancers	Hela-S3	cervix
45	chr16:73084600-73086800	Enhancers	A549	lung
46	chr16:73084600-73087000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:73084600-73087400	Weak transcription	Stomach Mucosa	stomach
48	chr16:73084800-73086600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
49	chr16:73084800-73087000	Enhancers	Colon Smooth Muscle	Colon
50	chr16:73084800-73087200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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