Variant report

Variant	rs7195447
Chromosome Location	chr16:75635852-75635853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75634253..75636592-chr16:75661880..75664841,2	K562	blood:
2	chr16:75635717..75638506-chr16:75654475..75657293,3	MCF-7	breast:
3	chr16:75634260..75637164-chr16:75680044..75681999,3	K562	blood:

Variant related genes	Relation type
ENSG00000065427	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000065457	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs12599863	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2550909	0.82[EUR][1000 genomes]
rs2641801	0.80[AMR][1000 genomes]
rs3863448	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324157	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4887832	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4888435	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4888439	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59297469	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564267	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7189895	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8048944	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964632	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
rs7195447	ADAT1	cis	Adipose Subcutaneous	GTEx
rs7195447	ADAT1	cis	Muscle Skeletal	GTEx
rs7195447	ADAT1	cis	Artery Tibial	GTEx
rs7195447	ADAT1	cis	lung	GTEx
rs7195447	ADAT1	cis	Esophagus Muscularis	GTEx
rs7195447	ADAT1	cis	Thyroid	GTEx
rs7195447	ADAT1	Cis_1M	lymphoblastoid	RTeQTL
rs7195447	ADAT1	cis	Skin Sun Exposed Lower leg	GTEx
rs7195447	ADAT1	cis	Nerve Tibial	GTEx
rs7195447	ADAT1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75625600-75648000	Weak transcription	Fetal Heart	heart
2	chr16:75628600-75636600	Weak transcription	Stomach Mucosa	stomach
3	chr16:75629000-75636000	Weak transcription	NHDF-Ad	bronchial
4	chr16:75629000-75650600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr16:75629400-75636000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:75629600-75636200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:75629600-75654800	Strong transcription	Fetal Stomach	stomach
8	chr16:75629800-75636000	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr16:75630200-75636000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr16:75630200-75636000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr16:75630200-75636000	Strong transcription	Dnd41	blood
12	chr16:75630200-75638200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr16:75630600-75654600	Strong transcription	Fetal Intestine Large	intestine
14	chr16:75630800-75636000	Strong transcription	Placenta	Placenta
15	chr16:75630800-75636200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr16:75630800-75636400	Strong transcription	Fetal Brain Female	brain
17	chr16:75630800-75638000	Strong transcription	Adipose Nuclei	Adipose
18	chr16:75631000-75636000	Weak transcription	Fetal Brain Male	brain
19	chr16:75631000-75636200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr16:75631000-75636200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr16:75631000-75638000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:75631000-75638000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr16:75631000-75638200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:75631000-75649400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr16:75631200-75637400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:75631400-75636000	Strong transcription	Fetal Intestine Small	intestine
27	chr16:75631400-75636200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr16:75631400-75636200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr16:75631400-75641800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:75631400-75654600	Strong transcription	Brain Hippocampus Middle	brain
31	chr16:75631400-75654600	Strong transcription	Fetal Muscle Leg	muscle
32	chr16:75631400-75655200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr16:75631600-75636000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr16:75631800-75636200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:75632000-75639000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr16:75632200-75638000	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr16:75632600-75654800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr16:75632800-75637800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr16:75632800-75643000	Strong transcription	HepG2	liver
40	chr16:75633000-75636000	Strong transcription	Primary B cells from cord blood	blood
41	chr16:75633000-75636000	Strong transcription	Thymus	Thymus
42	chr16:75633000-75637800	Strong transcription	Ovary	ovary
43	chr16:75633000-75638000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr16:75633000-75638000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr16:75633000-75654400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr16:75633000-75654400	Strong transcription	Fetal Thymus	thymus
47	chr16:75633200-75636000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr16:75633200-75636200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr16:75633200-75638200	Strong transcription	Brain Anterior Caudate	brain
50	chr16:75633200-75638200	Strong transcription	Lung	lung

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