Variant report

Variant	rs16973227
Chromosome Location	chr16:71512580-71512581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF23-5	chr16:71512123-71512908	NONHSAT143482

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13331092	0.88[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13335958	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338592	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338643	0.83[AMR][1000 genomes]
rs13339359	0.83[AMR][1000 genomes]
rs16972292	0.94[LWK][hapmap];0.81[MKK][hapmap]
rs28436693	1.00[AMR][1000 genomes]
rs28448676	1.00[AMR][1000 genomes]
rs59475931	1.00[AMR][1000 genomes]
rs7202340	0.88[YRI][hapmap]
rs73584836	1.00[AMR][1000 genomes]
rs73589850	1.00[AMR][1000 genomes]
rs8053156	0.83[AMR][1000 genomes]
rs8060811	1.00[AMR][1000 genomes]
rs9921203	0.83[AMR][1000 genomes]
rs9926624	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9927547	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs9927810	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs9940830	0.84[YRI][hapmap];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16973227	MARVELD3	cis	lymphoblastoid	seeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71497000-71517400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr16:71497000-71517400	Weak transcription	Fetal Heart	heart
3	chr16:71497000-71517600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr16:71502800-71517400	Weak transcription	Dnd41	blood
5	chr16:71504400-71512800	Strong transcription	Skeletal Muscle Male	skeletal muscle
6	chr16:71504600-71513600	Strong transcription	Stomach Smooth Muscle	stomach
7	chr16:71504800-71512800	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr16:71504800-71513000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:71505000-71513000	Strong transcription	Adipose Nuclei	Adipose
10	chr16:71506400-71517400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr16:71507200-71514800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr16:71507200-71517800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:71507400-71517800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr16:71507600-71512800	Strong transcription	Ovary	ovary
15	chr16:71507600-71513000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:71507600-71517400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr16:71507600-71517400	Weak transcription	Fetal Brain Male	brain
18	chr16:71507800-71512600	Strong transcription	Fetal Brain Female	brain
19	chr16:71507800-71512800	Strong transcription	Left Ventricle	heart
20	chr16:71507800-71513000	Strong transcription	Aorta	Aorta
21	chr16:71507800-71513000	Strong transcription	Brain Germinal Matrix	brain
22	chr16:71507800-71513000	Strong transcription	Fetal Muscle Leg	muscle
23	chr16:71507800-71513200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:71508000-71513000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr16:71508200-71513000	Strong transcription	Liver	Liver
26	chr16:71508400-71512600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:71508400-71512800	Strong transcription	Brain Anterior Caudate	brain
28	chr16:71508400-71513000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr16:71508400-71517600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr16:71508400-71517600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:71508600-71512800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr16:71508600-71512800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr16:71508600-71512800	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr16:71508600-71513000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:71508800-71512600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:71508800-71512800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:71508800-71513000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr16:71508800-71513000	Strong transcription	Primary T cells from cord blood	blood
39	chr16:71508800-71513000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:71508800-71513000	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr16:71508800-71513000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr16:71508800-71517800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr16:71509000-71513000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr16:71509000-71513000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr16:71509000-71513000	Strong transcription	Right Ventricle	heart
46	chr16:71509200-71512600	Strong transcription	Brain Angular Gyrus	brain
47	chr16:71509200-71512800	Strong transcription	Brain Cingulate Gyrus	brain
48	chr16:71509200-71512800	Strong transcription	Fetal Intestine Large	intestine
49	chr16:71509200-71513000	Strong transcription	Primary B cells from cord blood	blood
50	chr16:71509200-71513000	Strong transcription	HepG2	liver

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