Variant report

Variant	rs14018
Chromosome Location	chr3:48784270-48784271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:48781538..48784352-chr3:48787212..48789298,3	K562	blood:
2	chr3:48783500..48786885-chr3:48790129..48792388,3	K562	blood:
3	chr3:48776467..48778976-chr3:48782002..48785742,3	K562	blood:

Variant related genes	Relation type
ENSG00000068745	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 33 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10865953	1.00[CEU][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs12632533	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs4858799	0.81[EUR][1000 genomes]
rs4858800	1.00[CEU][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs4858830	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4974088	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6442129	0.81[EUR][1000 genomes]
rs6442131	0.96[EUR][1000 genomes]
rs6766238	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6796790	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes]
rs6801211	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs6806356	1.00[CEU][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs7373072	1.00[CEU][hapmap]
rs7429596	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7610519	0.83[EUR][1000 genomes]
rs7621226	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7639370	0.90[EUR][1000 genomes]
rs7641050	0.85[EUR][1000 genomes]
rs7653408	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs9284885	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs9311431	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9848268	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9859473	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9864243	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs9873227	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9879978	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9882443	1.00[CEU][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs990211	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv3407876	chr3:48774454-48823998	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:33)

SNP	Gene	Cis/trans	Tissue	Source
rs14018	AMT	cis	cerebellum	SCAN
rs14018	ARIH2	Cis_1M	lymphoblastoid	RTeQTL
rs14018	LZTFL1	cis	cerebellum	SCAN
rs14018	P4HTM	cis	lung	GTEx
rs14018	AMT	cis	Nerve Tibial	GTEx
rs14018	AMT	cis	Esophagus Mucosa	GTEx
rs14018	NICN1	cis	cerebellum	SCAN
rs14018	DALRD3	cis	parietal	SCAN
rs14018	P4HTM	cis	parietal	SCAN
rs14018	AMT	cis	lung	GTEx
rs14018	DALRD3	cis	cerebellum	SCAN
rs14018	IQCF1	cis	cerebellum	SCAN
rs14018	TLR9	cis	parietal	SCAN
rs14018	WDR6	cis	cerebellum	SCAN
rs14018	WDR6	cis	Nerve Tibial	GTEx
rs14018	AMT	cis	Thyroid	GTEx
rs14018	NICN1	cis	parietal	SCAN
rs14018	AMT	cis	Artery Aorta	GTEx
rs14018	AMT	cis	parietal	SCAN
rs14018	GPX1	cis	parietal	SCAN
rs14018	ZNF589	cis	parietal	SCAN
rs14018	WDR6	cis	Muscle Skeletal	GTEx
rs14018	PH-4	Cis_1M	lymphoblastoid	RTeQTL
rs14018	WDR6	cis	parietal	SCAN
rs14018	PHF7	cis	parietal	SCAN
rs14018	NICN1-AS1	cis	Thyroid	GTEx
rs14018	AMT	cis	Artery Tibial	GTEx
rs14018	QRICH1	cis	cerebellum	SCAN
rs14018	AMT	cis	Whole Blood	GTEx
rs14018	AMT	cis	Adipose Subcutaneous	GTEx
rs14018	AMT	cis	lymphoblastoid	seeQTL
rs14018	NCKIPSD	cis	parietal	SCAN
rs14018	NICN1	cis	Thyroid	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48776200-48784800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:48777600-48787800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:48777800-48784400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr3:48777800-48784800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr3:48777800-48784800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr3:48777800-48784800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:48777800-48785000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr3:48777800-48785400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr3:48777800-48785800	Weak transcription	Spleen	Spleen
10	chr3:48777800-48788000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr3:48777800-48788800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:48777800-48807400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:48778000-48788000	Weak transcription	HUVEC	blood vessel
14	chr3:48778000-48788200	Weak transcription	NH-A	brain
15	chr3:48778000-48788400	Weak transcription	GM12878-XiMat	blood
16	chr3:48778000-48789000	Weak transcription	NHEK	skin
17	chr3:48778000-48807200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:48778200-48784400	Weak transcription	Osteobl	bone
19	chr3:48778200-48784600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:48778200-48784600	Weak transcription	HMEC	breast
21	chr3:48778200-48784600	Weak transcription	NHDF-Ad	bronchial
22	chr3:48778200-48784800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:48778200-48784800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr3:48778200-48785000	Weak transcription	NHLF	lung
25	chr3:48778200-48785800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:48778200-48787800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:48778200-48788400	Weak transcription	Fetal Brain Male	brain
28	chr3:48778200-48814400	Weak transcription	Fetal Heart	heart
29	chr3:48778200-48820200	Weak transcription	Fetal Kidney	kidney
30	chr3:48778200-48836600	Weak transcription	A549	lung
31	chr3:48778400-48784800	Weak transcription	Right Ventricle	heart
32	chr3:48778400-48785200	Weak transcription	Fetal Brain Female	brain
33	chr3:48778400-48785200	Weak transcription	Fetal Intestine Large	intestine
34	chr3:48778400-48785200	Weak transcription	Gastric	stomach
35	chr3:48778400-48785200	Weak transcription	Pancreas	Pancrea
36	chr3:48778400-48785200	Weak transcription	Hela-S3	cervix
37	chr3:48778400-48785800	Weak transcription	HSMMtube	muscle
38	chr3:48778400-48796000	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:48778600-48784400	Weak transcription	Liver	Liver
40	chr3:48778600-48789000	Weak transcription	Small Intestine	intestine
41	chr3:48778600-48826000	Weak transcription	Stomach Mucosa	stomach
42	chr3:48778800-48784800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr3:48779000-48784800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:48779000-48788400	Weak transcription	Colonic Mucosa	Colon
45	chr3:48779000-48788400	Weak transcription	Esophagus	oesophagus
46	chr3:48780000-48784800	Weak transcription	Placenta	Placenta
47	chr3:48780400-48784400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr3:48780600-48784800	Weak transcription	Primary T cells from cord blood	blood
49	chr3:48780600-48788400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:48780600-48788600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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