Variant report

Variant	rs9659809
Chromosome Location	chr1:226338240-226338241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226336437..226338325-chr1:226593964..226596823,2	K562	blood:
2	chr1:226313181..226318051-chr1:226333070..226339347,8	MCF-7	breast:
3	chr1:226333956..226336009-chr1:226337599..226339398,2	MCF-7	breast:
4	chr1:226336915..226339836-chr1:226348415..226349970,2	K562	blood:
5	chr1:226333722..226336002-chr1:226337600..226339144,2	K562	blood:

Variant related genes	Relation type
ENSG00000182827	Chromatin interaction
ENSG00000143799	Chromatin interaction
ENSG00000234478	Chromatin interaction
ENSG00000270598	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1043641	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10495243	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12402078	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56381945	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58322813	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58416350	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66520928	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66527714	0.92[AFR][1000 genomes]
rs67431141	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67696165	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72759068	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72759069	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72759091	0.87[AFR][1000 genomes]
rs72759098	0.87[EUR][1000 genomes]
rs9662238	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9725713	0.80[AFR][1000 genomes]
rs9727021	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9727329	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9659809	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226323200-226344600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:226323400-226338400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:226323600-226338400	Weak transcription	Fetal Kidney	kidney
4	chr1:226323600-226339800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:226323600-226339800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:226323600-226346000	Weak transcription	Fetal Heart	heart
7	chr1:226323800-226338600	Weak transcription	Fetal Brain Male	brain
8	chr1:226323800-226355000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:226324000-226339800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:226324000-226340000	Weak transcription	Stomach Mucosa	stomach
11	chr1:226324000-226372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:226324400-226339800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:226324400-226346200	Weak transcription	Pancreas	Pancrea
14	chr1:226329600-226353800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:226330000-226341000	Weak transcription	Psoas Muscle	Psoas
16	chr1:226330600-226354200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:226330800-226354200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:226331000-226341600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:226331000-226353800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:226331000-226353800	Strong transcription	Adipose Nuclei	Adipose
21	chr1:226331000-226354000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:226331000-226355200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:226331200-226342400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:226331200-226342600	Strong transcription	Duodenum Mucosa	Duodenum
25	chr1:226331600-226338400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:226331600-226340000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:226331600-226342200	Strong transcription	Osteobl	bone
28	chr1:226331600-226342400	Strong transcription	Primary B cells from cord blood	blood
29	chr1:226331600-226342600	Strong transcription	NH-A	brain
30	chr1:226331600-226342800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:226331600-226342800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:226331600-226342800	Strong transcription	Fetal Lung	lung
33	chr1:226331600-226343000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr1:226331600-226346200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:226331600-226353600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:226331600-226353800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr1:226331600-226354200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:226331600-226355600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr1:226331800-226342600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr1:226331800-226342800	Strong transcription	HepG2	liver
41	chr1:226331800-226353800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:226331800-226353800	Strong transcription	Liver	Liver
43	chr1:226332200-226346600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:226332600-226338400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:226333000-226356400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:226333600-226342600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:226333600-226342800	Strong transcription	Fetal Thymus	thymus
48	chr1:226333600-226343200	Strong transcription	Fetal Intestine Large	intestine
49	chr1:226333800-226338600	Strong transcription	HSMMtube	muscle
50	chr1:226333800-226339800	Strong transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links