Variant report

Variant	rs4647720
Chromosome Location	chr11:47245145-47245146
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	POLR2A	chr11:47245114-47245946	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47239591..47242339-chr11:47244082..47246112,2	MCF-7	breast:
2	chr11:47245041..47247792-chr11:47251333..47254265,2	K562	blood:

Variant related genes	Relation type
ENSG00000256897	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12573962	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12575157	0.90[AMR][1000 genomes]
rs12575296	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12576461	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12576690	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12576751	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12576935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12577319	0.90[AMR][1000 genomes]
rs12578030	0.80[ASN][1000 genomes]
rs17197710	0.80[ASN][1000 genomes]
rs3736101	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3758668	0.90[AMR][1000 genomes]
rs3758671	0.90[AMR][1000 genomes]
rs3816724	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41301449	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41304347	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41310332	0.85[EUR][1000 genomes]
rs45489595	0.87[EUR][1000 genomes]
rs4647713	0.80[ASN][1000 genomes]
rs4647735	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4647736	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4647759	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61896047	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61896051	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61896053	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61896054	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61897361	0.85[EUR][1000 genomes]
rs61897855	0.80[ASN][1000 genomes]
rs61897856	0.80[ASN][1000 genomes]
rs61897858	0.80[ASN][1000 genomes]
rs61897859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4647720	PACSIN3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47238400-47246200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr11:47238400-47246600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:47238400-47255800	Weak transcription	Brain Anterior Caudate	brain
4	chr11:47238400-47269400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:47238600-47245600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:47238600-47247600	Weak transcription	Colonic Mucosa	Colon
7	chr11:47238600-47253800	Weak transcription	Aorta	Aorta
8	chr11:47238600-47254200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:47238600-47255400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:47238600-47255400	Weak transcription	Right Ventricle	heart
11	chr11:47238600-47255600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:47238600-47255800	Weak transcription	Brain Substantia Nigra	brain
13	chr11:47238600-47255800	Weak transcription	Right Atrium	heart
14	chr11:47238600-47256000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:47238600-47259600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:47238600-47261000	Weak transcription	Small Intestine	intestine
17	chr11:47238800-47254000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:47239400-47246200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr11:47239400-47252200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:47239400-47252200	Strong transcription	Fetal Thymus	thymus
21	chr11:47239400-47255000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:47239600-47245600	Strong transcription	Thymus	Thymus
23	chr11:47239600-47251800	Strong transcription	Fetal Stomach	stomach
24	chr11:47239800-47245600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr11:47239800-47245600	Strong transcription	Fetal Intestine Small	intestine
26	chr11:47239800-47247400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:47239800-47254200	Weak transcription	Lung	lung
28	chr11:47239800-47255600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:47239800-47255600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:47240000-47245600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr11:47240000-47247200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr11:47240000-47252400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:47240000-47260200	Weak transcription	Fetal Brain Female	brain
34	chr11:47240200-47245600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:47240200-47254200	Weak transcription	Esophagus	oesophagus
36	chr11:47240200-47254200	Weak transcription	Stomach Mucosa	stomach
37	chr11:47240200-47254600	Weak transcription	Pancreas	Pancrea
38	chr11:47240200-47255400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:47240200-47255600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:47240200-47255800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:47240200-47256000	Weak transcription	Gastric	stomach
42	chr11:47240200-47266600	Weak transcription	Fetal Brain Male	brain
43	chr11:47240400-47246000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:47240400-47255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:47241000-47245800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr11:47241400-47255600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:47241800-47254400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr11:47241800-47256000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:47242000-47248400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:47242000-47255800	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links