Variant report

Variant	rs4653702
Chromosome Location	chr1:226182800-226182801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226076245..226078992-chr1:226182776..226185371,2	K562	blood:
2	chr1:226069274..226070953-chr1:226180854..226183828,2	K562	blood:
3	chr1:226182615..226184840-chr1:226309773..226312606,2	K562	blood:
4	chr1:226178645..226182861-chr1:226185061..226188783,6	MCF-7	breast:
5	chr1:226178791..226193771-chr1:226246813..226256535,111	K562	blood:
6	chr1:226178945..226182986-chr1:226250687..226254732,6	K562	blood:
7	chr1:225632657..225635050-chr1:226182326..226184522,2	MCF-7	breast:
8	chr1:226175987..226179180-chr1:226182240..226184777,3	MCF-7	breast:
9	chr1:226180666..226183104-chr1:226186233..226187870,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196187	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000243709	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10915916	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11583426	0.84[AMR][1000 genomes]
rs2180421	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2475152	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2749698	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2816329	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2816330	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4653701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426091	0.88[EUR][1000 genomes]
rs6426092	0.86[EUR][1000 genomes]
rs6657197	0.84[EUR][1000 genomes]
rs6664468	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6690247	0.86[EUR][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	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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 miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4653702	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226129600-226185600	Weak transcription	Right Atrium	heart
2	chr1:226164600-226182800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:226164600-226183000	Strong transcription	Placenta	Placenta
4	chr1:226165000-226183600	Strong transcription	Adipose Nuclei	Adipose
5	chr1:226165000-226186000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:226165200-226183200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:226165200-226183400	Strong transcription	Osteobl	bone
8	chr1:226165400-226183000	Strong transcription	Liver	Liver
9	chr1:226165400-226183000	Strong transcription	Left Ventricle	heart
10	chr1:226165400-226183400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:226165400-226183400	Strong transcription	Stomach Smooth Muscle	stomach
12	chr1:226165400-226183800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:226165600-226184400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:226167000-226185000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:226167400-226183600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:226167600-226183000	Strong transcription	NH-A	brain
17	chr1:226167600-226183200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:226167800-226183200	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:226168600-226183200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr1:226169200-226183600	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:226169800-226183200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:226169800-226183600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:226169800-226183600	Weak transcription	Stomach Mucosa	stomach
24	chr1:226170000-226183000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:226170000-226183600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:226170000-226183800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:226170000-226185800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:226170200-226183200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:226170200-226183200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr1:226170200-226184400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:226170200-226186200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:226170400-226183000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr1:226170400-226184000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr1:226170600-226183600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:226170800-226182800	Strong transcription	Fetal Stomach	stomach
36	chr1:226171000-226183400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:226171000-226183800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr1:226171200-226182800	Strong transcription	Fetal Muscle Leg	muscle
39	chr1:226171400-226184600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:226171600-226183600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:226171600-226184000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:226171600-226185800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:226172200-226183400	Strong transcription	A549	lung
44	chr1:226173000-226183800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr1:226175400-226182800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:226175400-226182800	Strong transcription	Colon Smooth Muscle	Colon
47	chr1:226175600-226182800	Strong transcription	Lung	lung
48	chr1:226175800-226182800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:226175800-226183000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:226176000-226182800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links