Variant report

Variant	rs4888443
Chromosome Location	chr16:75685511-75685512
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	chr16:75685170-75685621	GM12878	blood:	n/a	n/a
2	EBF1	chr16:75685265-75685538	GM12878	blood:	n/a	n/a
3	WRNIP1	chr16:75685291-75685549	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75509496..75511501-chr16:75683548..75685675,2	K562	blood:
2	chr16:75682807..75685554-chr16:77222359..77225911,3	K562	blood:

Variant related genes	Relation type
TERF2IP	TF binding region
KARS	TF binding region
ENSG00000103111	Chromatin interaction
ENSG00000203472	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12596662	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61310184	0.80[AFR][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	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4888443	ADAT1	cis	Thyroid	GTEx
rs4888443	ADAT1	cis	Nerve Tibial	GTEx
rs4888443	ADAT1	cis	Esophagus Mucosa	GTEx
rs4888443	ADAT1	Cis_1M	lymphoblastoid	RTeQTL
rs4888443	ADAT1	cis	Esophagus Muscularis	GTEx
rs4888443	ADAT1	cis	Skin Sun Exposed Lower leg	GTEx
rs4888443	ADAT1	cis	Muscle Skeletal	GTEx
rs4888443	ADAT1	cis	Artery Tibial	GTEx
rs4888443	ADAT1	cis	Adipose Subcutaneous	GTEx
rs4888443	ADAT1	cis	lung	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75680800-75686200	Active TSS	Ovary	ovary
2	chr16:75681200-75685600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr16:75683400-75686000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr16:75683400-75686200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:75683400-75686400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr16:75683600-75685800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr16:75683600-75686200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:75683600-75686200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr16:75683600-75686200	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr16:75683600-75686400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr16:75683600-75689800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:75683800-75686200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr16:75683800-75686800	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr16:75683800-75691800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr16:75683800-75692800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr16:75684000-75685600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:75684200-75685600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr16:75684200-75685800	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr16:75684200-75685800	Enhancers	A549	lung
20	chr16:75684200-75686200	Enhancers	Spleen	Spleen
21	chr16:75684200-75687400	Enhancers	Fetal Heart	heart
22	chr16:75684400-75685600	Enhancers	Fetal Muscle Leg	muscle
23	chr16:75684400-75685600	Genic enhancers	Fetal Stomach	stomach
24	chr16:75684400-75685600	Genic enhancers	Fetal Thymus	thymus
25	chr16:75684400-75686000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr16:75684400-75686200	Enhancers	Placenta	Placenta
27	chr16:75684400-75686200	Enhancers	Psoas Muscle	Psoas
28	chr16:75684400-75686600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:75684400-75686800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr16:75684400-75687600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:75684400-75687800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr16:75684400-75688200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr16:75684400-75689000	Weak transcription	HSMMtube	muscle
34	chr16:75684400-75689400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr16:75684400-75689400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr16:75684400-75689800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:75684600-75685600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:75684600-75686000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:75684600-75686200	Enhancers	Right Ventricle	heart
40	chr16:75684600-75686400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:75684600-75687000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
42	chr16:75684600-75687400	Weak transcription	Fetal Intestine Small	intestine
43	chr16:75684600-75688000	Weak transcription	Fetal Intestine Large	intestine
44	chr16:75684600-75695400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:75684800-75685600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr16:75684800-75685600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:75684800-75685600	Active TSS	Fetal Brain Female	brain
48	chr16:75684800-75685600	Enhancers	Left Ventricle	heart
49	chr16:75684800-75685600	Enhancers	Lung	lung
50	chr16:75684800-75685800	Enhancers	Aorta	Aorta

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