Variant report

Variant	rs1874022
Chromosome Location	chr16:75655049-75655050
allele	C/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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75655020..75658877-chr16:75680481..75684905,8	MCF-7	breast:
2	chr16:75496396..75498894-chr16:75652662..75656672,3	MCF-7	breast:
3	chr16:75653410..75664044-chr16:75674901..75683254,27	MCF-7	breast:
4	chr16:75635717..75638506-chr16:75654475..75657293,3	MCF-7	breast:
5	chr16:75467060..75468632-chr16:75654952..75657400,2	K562	blood:
6	chr16:75575437..75578213-chr16:75652785..75655591,2	K562	blood:
7	chr16:75505427..75506354-chr16:75654710..75655557,4	MCF-7	breast:
8	chr16:75618900..75620910-chr16:75653881..75655616,2	K562	blood:
9	chr16:75647375..75649764-chr16:75653227..75655141,2	K562	blood:
10	chr16:75589687..75590298-chr16:75654934..75655642,2	K562	blood:
11	chr16:75649115..75650926-chr16:75653662..75655747,3	MCF-7	breast:
12	chr16:75638796..75640828-chr16:75652296..75655145,2	MCF-7	breast:
13	chr16:75465910..75469192-chr16:75654368..75658890,6	K562	blood:
14	chr16:75654016..75659144-chr16:75660095..75666421,8	K562	blood:
15	chr16:75551190..75551731-chr16:75654745..75655449,2	K562	blood:
16	chr16:75601864..75604416-chr16:75653579..75655170,2	MCF-7	breast:
17	chr16:75587027..75591762-chr16:75651045..75658145,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166822	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000153774	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10781978	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11149843	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12596662	0.92[ASN][1000 genomes]
rs2550913	0.91[LWK][hapmap]
rs3743598	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.87[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3863448	0.90[CHD][hapmap];0.91[GIH][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs4888435	0.92[YRI][hapmap]
rs4888441	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55864135	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61310184	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6564267	0.90[CHD][hapmap]
rs7189895	0.90[CHD][hapmap];0.91[GIH][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap]
rs8060972	0.82[CHB][hapmap]
rs964632	0.91[LWK][hapmap];0.93[MKK][hapmap];0.82[TSI][hapmap];0.92[YRI][hapmap]

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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1874022	ADAT1	cis	Artery Tibial	GTEx
rs1874022	ADAT1	cis	Esophagus Muscularis	GTEx
rs1874022	ADAT1	cis	Adipose Subcutaneous	GTEx
rs1874022	ADAT1	cis	Thyroid	GTEx
rs1874022	ADAT1	Cis_1M	lymphoblastoid	RTeQTL
rs1874022	ADAT1	cis	lung	GTEx
rs1874022	ADAT1	cis	Esophagus Mucosa	GTEx
rs1874022	ADAT1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75631400-75655200	Strong transcription	Fetal Muscle Trunk	muscle
2	chr16:75637400-75655200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:75637800-75655200	Weak transcription	Stomach Mucosa	stomach
4	chr16:75640200-75655200	Strong transcription	Stomach Smooth Muscle	stomach
5	chr16:75646600-75655800	Weak transcription	Esophagus	oesophagus
6	chr16:75647000-75656200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr16:75647800-75655800	Weak transcription	Right Ventricle	heart
8	chr16:75648400-75656000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:75649800-75655800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:75651200-75656000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:75651400-75655600	Weak transcription	Brain Angular Gyrus	brain
12	chr16:75651400-75656000	Weak transcription	Fetal Kidney	kidney
13	chr16:75651400-75656200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr16:75651600-75655400	Weak transcription	Fetal Brain Male	brain
15	chr16:75651600-75656200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:75651800-75655600	Weak transcription	Psoas Muscle	Psoas
17	chr16:75652000-75656000	Weak transcription	Colonic Mucosa	Colon
18	chr16:75653000-75656000	Weak transcription	NHDF-Ad	bronchial
19	chr16:75653200-75655800	Weak transcription	Small Intestine	intestine
20	chr16:75653200-75656200	Weak transcription	Aorta	Aorta
21	chr16:75653600-75655200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr16:75654000-75656000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr16:75654000-75656200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr16:75654200-75656200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr16:75654200-75656200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr16:75654400-75655200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr16:75654400-75655200	Enhancers	HUVEC	blood vessel
28	chr16:75654400-75655600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr16:75654400-75655600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr16:75654400-75655600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr16:75654400-75655600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr16:75654400-75655800	Flanking Active TSS	K562	blood
33	chr16:75654400-75656000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr16:75654400-75656000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:75654400-75656000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr16:75654400-75656000	Enhancers	Fetal Heart	heart
37	chr16:75654400-75656000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr16:75654400-75656200	Weak transcription	Fetal Lung	lung
39	chr16:75654400-75656400	Weak transcription	Ovary	ovary
40	chr16:75654600-75655200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:75654600-75655200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:75654600-75655200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr16:75654600-75655400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:75654600-75655400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr16:75654600-75655400	Genic enhancers	Primary T cells from cord blood	blood
46	chr16:75654600-75655600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr16:75654600-75655600	Weak transcription	Brain Hippocampus Middle	brain
48	chr16:75654600-75655600	Enhancers	Rectal Smooth Muscle	rectum
49	chr16:75654600-75655800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr16:75654600-75655800	Weak transcription	Fetal Intestine Large	intestine

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