Variant report

Variant	rs7206481
Chromosome Location	chr16:75634014-75634015
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75633557..75635461-chr16:75635525..75638161,2	MCF-7	breast:
2	chr16:75627208..75629939-chr16:75629940..75634197,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065457	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11149840	0.89[EUR][1000 genomes]
rs11149841	0.83[ASN][1000 genomes]
rs11642599	0.91[EUR][1000 genomes]
rs11645180	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11649388	0.91[EUR][1000 genomes]
rs3743604	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3784932	0.85[EUR][1000 genomes]
rs3826107	0.81[EUR][1000 genomes]
rs4149500	0.90[EUR][1000 genomes]
rs4149501	0.89[EUR][1000 genomes]
rs4149504	0.85[EUR][1000 genomes]
rs4485400	0.89[EUR][1000 genomes]
rs59359930	0.82[EUR][1000 genomes]
rs60988480	0.86[EUR][1000 genomes]
rs7202717	0.89[EUR][1000 genomes]
rs74024804	0.90[EUR][1000 genomes]
rs8046531	0.82[EUR][1000 genomes]
rs8046977	0.82[EUR][1000 genomes]
rs8048818	0.85[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
rs7206481	ADAT1	cis	multi-tissue	Pritchard
rs7206481	ADAT1	Cis_1M	lymphoblastoid	RTeQTL
rs7206481	ADAT1	cis	Esophagus Muscularis	GTEx
rs7206481	ADAT1	cis	lung	GTEx
rs7206481	ADAT1	cis	Thyroid	GTEx
rs7206481	ADAT1	cis	Artery Tibial	GTEx
rs7206481	ADAT1	cis	Skin Sun Exposed Lower leg	GTEx
rs7206481	ADAT1	cis	Muscle Skeletal	GTEx
rs7206481	ADAT1	cis	Adipose Subcutaneous	GTEx
rs7206481	ADAT1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75610600-75635200	Weak transcription	Fetal Kidney	kidney
2	chr16:75612000-75635600	Weak transcription	Small Intestine	intestine
3	chr16:75613400-75635200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:75625400-75635400	Weak transcription	Brain Substantia Nigra	brain
5	chr16:75625600-75648000	Weak transcription	Fetal Heart	heart
6	chr16:75628000-75635200	Weak transcription	Right Ventricle	heart
7	chr16:75628600-75635000	Weak transcription	NHLF	lung
8	chr16:75628600-75635800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:75628600-75636600	Weak transcription	Stomach Mucosa	stomach
10	chr16:75629000-75635200	Weak transcription	K562	blood
11	chr16:75629000-75636000	Weak transcription	NHDF-Ad	bronchial
12	chr16:75629000-75650600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr16:75629400-75635200	Weak transcription	HUVEC	blood vessel
14	chr16:75629400-75635800	Strong transcription	Primary T cells from cord blood	blood
15	chr16:75629400-75635800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:75629400-75636000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:75629600-75635800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr16:75629600-75636200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:75629600-75654800	Strong transcription	Fetal Stomach	stomach
20	chr16:75629800-75636000	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr16:75630200-75636000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr16:75630200-75636000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:75630200-75636000	Strong transcription	Dnd41	blood
24	chr16:75630200-75638200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr16:75630600-75654600	Strong transcription	Fetal Intestine Large	intestine
26	chr16:75630800-75635800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr16:75630800-75635800	Strong transcription	GM12878-XiMat	blood
28	chr16:75630800-75636000	Strong transcription	Placenta	Placenta
29	chr16:75630800-75636200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr16:75630800-75636400	Strong transcription	Fetal Brain Female	brain
31	chr16:75630800-75638000	Strong transcription	Adipose Nuclei	Adipose
32	chr16:75631000-75635800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr16:75631000-75636000	Weak transcription	Fetal Brain Male	brain
34	chr16:75631000-75636200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr16:75631000-75636200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr16:75631000-75638000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr16:75631000-75638000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr16:75631000-75638200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr16:75631000-75649400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr16:75631200-75637400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr16:75631400-75634600	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr16:75631400-75635600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr16:75631400-75635800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:75631400-75636000	Strong transcription	Fetal Intestine Small	intestine
45	chr16:75631400-75636200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:75631400-75636200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:75631400-75641800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:75631400-75654600	Strong transcription	Brain Hippocampus Middle	brain
49	chr16:75631400-75654600	Strong transcription	Fetal Muscle Leg	muscle
50	chr16:75631400-75655200	Strong transcription	Fetal Muscle Trunk	muscle

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