Variant report

Variant	rs12449192
Chromosome Location	chr16:75615970-75615971
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75613643..75617035-chr16:75620700..75623039,3	MCF-7	breast:
2	chr16:75611305..75613480-chr16:75615216..75617290,3	K562	blood:
3	chr16:75467147..75468917-chr16:75614662..75617006,2	MCF-7	breast:
4	chr16:75614933..75617785-chr16:75656182..75657692,2	MCF-7	breast:
5	chr16:75603870..75606248-chr16:75614427..75616715,2	K562	blood:
6	chr16:75593250..75596560-chr16:75613588..75617138,3	MCF-7	breast:
7	chr16:75613514..75616148-chr16:75621638..75623239,2	K562	blood:

Variant related genes	Relation type
ENSG00000065457	Chromatin interaction
ENSG00000153774	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12599863	0.82[AFR][1000 genomes]
rs4888435	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6564267	0.87[ASN][1000 genomes]
rs964632	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	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
6	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

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs12449192	ADAT1	Cis_1M	lymphoblastoid	RTeQTL
rs12449192	ADAT1	cis	Thyroid	GTEx
rs12449192	ADAT1	cis	Esophagus Muscularis	GTEx
rs12449192	ADAT1	cis	Adipose Subcutaneous	GTEx
rs12449192	ADAT1	cis	lung	GTEx
rs12449192	ADAT1	cis	Artery Tibial	GTEx
rs12449192	ADAT1	cis	Nerve Tibial	GTEx
rs12449192	ADAT1	cis	Esophagus Mucosa	GTEx
rs12449192	ADAT1	cis	Muscle Skeletal	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75601200-75624400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:75604200-75622600	Weak transcription	Right Atrium	heart
3	chr16:75605400-75616000	Strong transcription	Fetal Intestine Small	intestine
4	chr16:75607000-75623200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:75607600-75630800	Weak transcription	Fetal Brain Male	brain
6	chr16:75608800-75616600	Weak transcription	Stomach Mucosa	stomach
7	chr16:75609000-75627800	Weak transcription	NHEK	skin
8	chr16:75610400-75634000	Weak transcription	Hela-S3	cervix
9	chr16:75610600-75622800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:75610600-75622800	Weak transcription	Fetal Heart	heart
11	chr16:75610600-75633400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr16:75610600-75635200	Weak transcription	Fetal Kidney	kidney
13	chr16:75611000-75624800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr16:75611400-75622600	Weak transcription	Right Ventricle	heart
15	chr16:75611400-75634000	Weak transcription	Colonic Mucosa	Colon
16	chr16:75611800-75628800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr16:75612000-75620400	Weak transcription	Pancreas	Pancrea
18	chr16:75612000-75622600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:75612000-75627400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr16:75612000-75627400	Weak transcription	Psoas Muscle	Psoas
21	chr16:75612000-75631000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:75612000-75635600	Weak transcription	Small Intestine	intestine
23	chr16:75612400-75620200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:75612400-75624600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr16:75612400-75631000	Weak transcription	Gastric	stomach
26	chr16:75612400-75631200	Weak transcription	Esophagus	oesophagus
27	chr16:75612600-75622200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr16:75613200-75622800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr16:75613200-75622800	Weak transcription	Brain Germinal Matrix	brain
30	chr16:75613200-75624200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr16:75613200-75624400	Weak transcription	K562	blood
32	chr16:75613200-75624600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr16:75613200-75624800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr16:75613200-75624800	Weak transcription	NHLF	lung
35	chr16:75613200-75627200	Weak transcription	HepG2	liver
36	chr16:75613200-75627800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr16:75613200-75633400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr16:75613400-75619200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:75613400-75620400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr16:75613400-75624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr16:75613400-75624400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr16:75613400-75624400	Weak transcription	HSMM	muscle
43	chr16:75613400-75624600	Weak transcription	NH-A	brain
44	chr16:75613400-75624800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr16:75613400-75624800	Weak transcription	NHDF-Ad	bronchial
46	chr16:75613400-75630800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr16:75613400-75635200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr16:75613600-75619600	Enhancers	Primary B cells from peripheral blood	blood
49	chr16:75613600-75622600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr16:75613600-75627400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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