Variant report

Variant	rs1018463
Chromosome Location	chr6:144093352-144093353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:144093220-144093370	BJ	skin:	n/a	n/a
2	CTCF	chr6:144093280-144093430	BJ	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143831076..143832888-chr6:144092613..144094642,2	MCF-7	breast:
2	chr6:144091837..144094429-chr6:144095791..144097571,2	K562	blood:

Variant related genes	Relation type
PHACTR2	TF binding region
ENSG00000001036	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11155325	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2073215	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2144223	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2295202	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4140473	0.84[ASN][1000 genomes]
rs57186895	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6907533	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6907636	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6911389	0.84[ASN][1000 genomes]
rs6912445	0.84[ASN][1000 genomes]
rs6927537	0.84[ASN][1000 genomes]
rs6931865	0.84[ASN][1000 genomes]
rs722754	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7754387	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7770737	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	nsv5513	chr6:144068006-144102028	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv3356440	chr6:144091559-144093557	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1018463	ZFY	trans	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144067800-144095400	Weak transcription	NHLF	lung
2	chr6:144067800-144122000	Weak transcription	Colonic Mucosa	Colon
3	chr6:144069400-144097800	Weak transcription	Gastric	stomach
4	chr6:144070200-144122000	Weak transcription	Small Intestine	intestine
5	chr6:144070800-144106200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:144072600-144095000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:144072600-144106400	Weak transcription	HMEC	breast
8	chr6:144074200-144113200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:144077200-144093600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:144077200-144095400	Weak transcription	Primary B cells from cord blood	blood
11	chr6:144077400-144095000	Weak transcription	NHEK	skin
12	chr6:144077800-144122000	Weak transcription	Fetal Brain Male	brain
13	chr6:144079000-144099600	Weak transcription	K562	blood
14	chr6:144079200-144095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:144080600-144095000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:144080600-144101200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr6:144080600-144122000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr6:144081200-144096400	Weak transcription	Brain Angular Gyrus	brain
19	chr6:144081800-144095200	Weak transcription	Psoas Muscle	Psoas
20	chr6:144081800-144097600	Weak transcription	Esophagus	oesophagus
21	chr6:144083600-144128600	Weak transcription	Hela-S3	cervix
22	chr6:144083800-144098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:144085000-144113800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:144085200-144113800	Weak transcription	Brain Hippocampus Middle	brain
25	chr6:144086200-144099000	Weak transcription	Thymus	Thymus
26	chr6:144086200-144105400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:144086600-144106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:144087000-144094600	Weak transcription	HepG2	liver
29	chr6:144087000-144095000	Weak transcription	Aorta	Aorta
30	chr6:144087000-144106600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:144087000-144122000	Weak transcription	Pancreas	Pancrea
32	chr6:144087200-144093400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:144087200-144093800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:144087200-144095000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr6:144087200-144097800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:144087200-144106000	Weak transcription	Spleen	Spleen
37	chr6:144087600-144096200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr6:144087800-144094600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:144088000-144094600	Weak transcription	Fetal Heart	heart
40	chr6:144088000-144095000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:144088000-144095800	Weak transcription	Right Ventricle	heart
42	chr6:144088000-144106400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:144088600-144102800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:144088800-144093400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr6:144088800-144113600	Weak transcription	A549	lung
46	chr6:144089400-144093400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:144089400-144093400	Weak transcription	Left Ventricle	heart
48	chr6:144089400-144095000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr6:144089600-144093400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:144089800-144094200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links