Variant report

Variant	rs12444827
Chromosome Location	chr16:73094493-73094494
allele	A/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	chr16:73094150-73094560	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr16:73093053-73095808	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr16:73094148-73094498	MCF10A-Er-Src	breast:	n/a	n/a
5	TCF12	chr16:73092724-73094740	A549	lung:	n/a	chr16:73094261-73094269
6	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
7	POLR2A	chr16:73093753-73094658	H1-neurons	neurons:	n/a	n/a
8	MAFK	chr16:73094394-73094594	IMR90	lung:	n/a	chr16:73094576-73094590 chr16:73094577-73094588
9	POLR2A	chr16:73088321-73094761	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:73018202..73027072-chr16:73088249..73094904,11	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-44L9.1.1-12	chr16:73093800-73095621	NONHSAT143627
2	lnc-RP11-44L9.1.1-12	chr16:73094279-73096215	NONHSAT143628
3	lnc-RP11-44L9.1.1-12	chr16:73094369-73096215	ENSG00000271009.2
4	lnc-RP11-44L9.1.1-12	chr16:73094144-73094658	ENSG00000272250.1

Variant related genes	Relation type
ZFHX3	TF binding region
ENSG00000221799	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1075855	0.92[AFR][1000 genomes]
rs6416749	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7404072	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	nsv827734	chr16:73090810-73096182	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv1837302	chr16:73091679-73102456	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73087800-73099200	Active TSS	Aorta	Aorta
2	chr16:73088200-73095200	Active TSS	Right Atrium	heart
3	chr16:73089800-73094800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr16:73090000-73095200	Active TSS	HSMM	muscle
5	chr16:73093000-73097400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:73093200-73095200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:73093200-73098600	Weak transcription	Lung	lung
8	chr16:73093200-73100600	Weak transcription	Gastric	stomach
9	chr16:73093400-73094600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:73093400-73094800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr16:73093400-73094800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr16:73093400-73095200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:73093400-73095200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr16:73093400-73095200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
15	chr16:73093400-73096800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:73093400-73098000	Weak transcription	Pancreas	Pancrea
17	chr16:73093600-73094600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr16:73093600-73094600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:73093600-73094800	Active TSS	Adipose Nuclei	Adipose
20	chr16:73093600-73095000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr16:73093600-73095400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr16:73093600-73095600	Enhancers	HepG2	liver
23	chr16:73093600-73096600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr16:73093600-73096600	Weak transcription	Placenta	Placenta
25	chr16:73093600-73096800	Weak transcription	Ovary	ovary
26	chr16:73093800-73094800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr16:73093800-73095000	Enhancers	Fetal Lung	lung
28	chr16:73093800-73095200	Flanking Active TSS	A549	lung
29	chr16:73094000-73094800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:73094000-73095600	Enhancers	HUVEC	blood vessel
31	chr16:73094000-73096800	Weak transcription	HMEC	breast
32	chr16:73094200-73094600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:73094200-73094600	Flanking Active TSS	HSMMtube	muscle
34	chr16:73094200-73095000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr16:73094200-73095200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:73094200-73095200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr16:73094200-73095200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
38	chr16:73094200-73096600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
39	chr16:73094400-73094600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
40	chr16:73094400-73094600	Active TSS	Colon Smooth Muscle	Colon
41	chr16:73094400-73094600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr16:73094400-73094600	Enhancers	NHDF-Ad	bronchial
43	chr16:73094400-73094600	Active TSS	NHLF	lung
44	chr16:73094400-73095000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
45	chr16:73094400-73095000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
46	chr16:73094400-73095000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:73094400-73095200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr16:73094400-73095200	Enhancers	Psoas Muscle	Psoas
49	chr16:73094400-73095200	Enhancers	Hela-S3	cervix
50	chr16:73094400-73095400	Enhancers	Osteobl	bone

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