Variant report

Variant	rs1166206
Chromosome Location	chr16:75588506-75588507
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75587108..75590001-chr17:56735204..56737947,2	MCF-7	breast:
2	chr16:75588082..75590325-chr16:77223299..77225155,3	K562	blood:
3	chr16:75588035..75589877-chr16:75656645..75658476,2	K562	blood:
4	chr16:75568229..75570112-chr16:75587872..75589519,2	K562	blood:
5	chr16:75586208..75590870-chr16:75596068..75600585,8	K562	blood:
6	chr16:75574449..75576989-chr16:75588011..75589806,2	K562	blood:
7	chr16:75465449..75469390-chr16:75587663..75590801,6	K562	blood:
8	chr16:75587953..75591056-chr16:75597056..75601894,6	MCF-7	breast:
9	chr16:75549723..75552104-chr16:75587869..75590374,4	MCF-7	breast:
10	chr16:75587027..75591762-chr16:75651045..75658145,7	K562	blood:
11	chr16:75564094..75567077-chr16:75588072..75589709,2	K562	blood:
12	chr16:75466075..75467662-chr16:75587828..75590094,2	MCF-7	breast:
13	chr16:75588411..75591308-chr16:75680950..75683486,5	K562	blood:
14	chr16:75587491..75591972-chr16:75596703..75602966,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000103111	Chromatin interaction
ENSG00000135702	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000034713	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000166848	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12599863	0.81[ASN][1000 genomes]
rs1994898	0.85[ASN][1000 genomes]
rs2059262	0.81[ASN][1000 genomes]
rs2550913	0.91[CHD][hapmap]
rs2572094	0.81[ASN][1000 genomes]
rs2641801	0.92[CHD][hapmap]
rs2650400	1.00[CHB][hapmap]
rs4887832	0.81[ASN][1000 genomes]
rs4888438	0.92[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888445	0.85[ASN][1000 genomes]
rs4888456	0.85[ASN][1000 genomes]
rs6564274	0.81[ASN][1000 genomes]
rs7192740	0.81[ASN][1000 genomes]
rs7197769	0.81[ASN][1000 genomes]
rs7199230	0.83[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7206874	0.85[ASN][1000 genomes]
rs8054050	0.83[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8182178	0.81[ASN][1000 genomes]
rs882263	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs920036	0.85[ASN][1000 genomes]
rs964632	1.00[CHB][hapmap];0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs9932190	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	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
6	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	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
9	nsv870450	chr16:75538457-75591359	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	41 gene(s)	inside rSNPs	diseases
10	nsv906929	chr16:75569739-75594918	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1166206	ADAT1	cis	Nerve Tibial	GTEx
rs1166206	ADAT1	cis	cerebellum	SCAN
rs1166206	ADAT1	cis	Adipose Subcutaneous	GTEx
rs1166206	ADAT1	cis	parietal	SCAN
rs1166206	ADAT1	cis	Muscle Skeletal	GTEx
rs1166206	ADAT1	cis	Thyroid	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75551200-75589200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:75564200-75589200	Weak transcription	Lung	lung
3	chr16:75569200-75588600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr16:75570000-75588600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr16:75570000-75588800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:75570600-75588600	Weak transcription	NHEK	skin
7	chr16:75570600-75588800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr16:75570600-75589000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:75571800-75588600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:75572200-75588600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:75572800-75588600	Weak transcription	Brain Germinal Matrix	brain
12	chr16:75572800-75588800	Weak transcription	Aorta	Aorta
13	chr16:75572800-75588800	Weak transcription	Right Ventricle	heart
14	chr16:75573400-75588600	Weak transcription	Fetal Lung	lung
15	chr16:75574000-75588800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:75574200-75589000	Weak transcription	Pancreas	Pancrea
17	chr16:75574400-75588800	Weak transcription	Fetal Kidney	kidney
18	chr16:75575200-75589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr16:75575600-75588800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:75576000-75588800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:75576200-75588600	Weak transcription	Hela-S3	cervix
22	chr16:75578400-75588800	Weak transcription	Fetal Intestine Large	intestine
23	chr16:75578400-75589200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:75578400-75589200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr16:75578400-75589200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr16:75578600-75588600	Weak transcription	Fetal Brain Female	brain
27	chr16:75578600-75589200	Weak transcription	Esophagus	oesophagus
28	chr16:75578600-75589200	Weak transcription	Left Ventricle	heart
29	chr16:75578800-75588600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr16:75578800-75588800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:75578800-75588800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr16:75578800-75588800	Weak transcription	HSMMtube	muscle
33	chr16:75579000-75588600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr16:75579200-75588800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr16:75579200-75588800	Weak transcription	Ovary	ovary
36	chr16:75579400-75588800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:75580800-75588800	Weak transcription	Fetal Stomach	stomach
38	chr16:75583400-75588800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:75584200-75588800	Weak transcription	Brain Substantia Nigra	brain
40	chr16:75584200-75588800	Weak transcription	Fetal Muscle Leg	muscle
41	chr16:75584400-75588800	Weak transcription	Adipose Nuclei	Adipose
42	chr16:75584400-75589000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr16:75584400-75589000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr16:75584400-75589200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr16:75584600-75588600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr16:75584600-75588600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr16:75584600-75588600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr16:75584600-75588600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr16:75584600-75588600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:75584600-75588600	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links