Variant report

Variant	rs62055075
Chromosome Location	chr16:73085161-73085162
allele	A/G
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	chr16:73085150-73085285	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr16:73081176-73085549	H1-neurons	neurons:	n/a	n/a
3	FOXA1	chr16:73084744-73085164	HepG2	liver:	n/a	chr16:73084952-73084967
4	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
5	FOXA1	chr16:73084654-73085187	HepG2	liver:	n/a	chr16:73084952-73084967
6	POLR2A	chr16:73080017-73085654	H1-neurons	neurons:	n/a	n/a
7	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
8	POLR2A	chr16:73084919-73085328	MCF10A-Er-Src	breast:	n/a	n/a

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]
rs62055074	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:89 , 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	chr16:73082600-73085400	Enhancers	Pancreas	Pancrea
4	chr16:73082600-73085600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr16:73082600-73086200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:73082600-73087400	Weak transcription	Gastric	stomach
7	chr16:73082600-73090400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr16:73082800-73085200	Enhancers	Placenta	Placenta
9	chr16:73082800-73085400	Enhancers	Duodenum Mucosa	Duodenum
10	chr16:73082800-73087200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr16:73082800-73087400	Enhancers	Fetal Lung	lung
12	chr16:73082800-73089200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr16:73083000-73085400	Enhancers	Fetal Muscle Trunk	muscle
14	chr16:73083000-73085600	Enhancers	Fetal Intestine Large	intestine
15	chr16:73083000-73085600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr16:73083000-73085800	Enhancers	Fetal Intestine Small	intestine
17	chr16:73083000-73087200	Enhancers	Brain Anterior Caudate	brain
18	chr16:73083000-73087200	Weak transcription	Spleen	Spleen
19	chr16:73083000-73087400	Weak transcription	Esophagus	oesophagus
20	chr16:73083000-73087400	Weak transcription	NHEK	skin
21	chr16:73083000-73087600	Enhancers	Liver	Liver
22	chr16:73083000-73088600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:73083000-73089600	Enhancers	Fetal Muscle Leg	muscle
24	chr16:73083200-73086000	Enhancers	Brain Hippocampus Middle	brain
25	chr16:73083200-73086400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:73083200-73086800	Weak transcription	Lung	lung
27	chr16:73083200-73087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:73083200-73087000	Weak transcription	HMEC	breast
29	chr16:73083200-73087200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:73083200-73087200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:73083200-73087200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr16:73083200-73087200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr16:73083200-73087400	Weak transcription	Brain Angular Gyrus	brain
34	chr16:73083200-73087600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr16:73083200-73088600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr16:73083200-73089600	Enhancers	Fetal Stomach	stomach
37	chr16:73083200-73090600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr16:73083200-73091000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr16:73083400-73085200	Weak transcription	Aorta	Aorta
40	chr16:73083400-73085200	Weak transcription	NH-A	brain
41	chr16:73083400-73085800	Weak transcription	HUVEC	blood vessel
42	chr16:73083400-73086200	Enhancers	Brain Substantia Nigra	brain
43	chr16:73083400-73086200	Enhancers	NHDF-Ad	bronchial
44	chr16:73083400-73086600	Weak transcription	Left Ventricle	heart
45	chr16:73083400-73087200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr16:73083400-73087400	Weak transcription	Adipose Nuclei	Adipose
47	chr16:73083400-73089600	Weak transcription	Right Ventricle	heart
48	chr16:73083600-73085200	Flanking Active TSS	HepG2	liver
49	chr16:73083600-73085600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr16:73083600-73086400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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