Variant report

Variant	rs6664468
Chromosome Location	chr1:226171475-226171476
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226168172..226173537-chr1:226248336..226252170,4	K562	blood:
2	chr1:225995447..225998114-chr1:226169770..226172541,2	K562	blood:
3	chr1:226170379..226172149-chr1:226298358..226299903,2	K562	blood:
4	chr1:226169480..226172418-chr1:226176613..226179473,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143819	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000272562	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	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11583426	0.81[AMR][1000 genomes]
rs2180421	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2475152	0.85[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2749698	0.96[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2816329	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2816330	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4653701	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4653702	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6426091	0.88[EUR][1000 genomes]
rs6426092	0.87[EUR][1000 genomes]
rs6657197	0.85[EUR][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
rs6664468	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 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	chr1:226162400-226173000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:226163600-226175800	Weak transcription	Aorta	Aorta
4	chr1:226163800-226174400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:226163800-226175400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:226163800-226175600	Weak transcription	Gastric	stomach
7	chr1:226163800-226175800	Weak transcription	Esophagus	oesophagus
8	chr1:226163800-226178800	Weak transcription	Right Ventricle	heart
9	chr1:226164000-226172800	Weak transcription	Brain Substantia Nigra	brain
10	chr1:226164400-226179000	Weak transcription	Small Intestine	intestine
11	chr1:226164600-226182800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:226164600-226183000	Strong transcription	Placenta	Placenta
13	chr1:226165000-226178800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:226165000-226183600	Strong transcription	Adipose Nuclei	Adipose
15	chr1:226165000-226186000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:226165200-226171600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:226165200-226174600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:226165200-226183200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:226165200-226183400	Strong transcription	Osteobl	bone
20	chr1:226165400-226176800	Strong transcription	HSMM	muscle
21	chr1:226165400-226182400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:226165400-226183000	Strong transcription	Liver	Liver
23	chr1:226165400-226183000	Strong transcription	Left Ventricle	heart
24	chr1:226165400-226183400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:226165400-226183400	Strong transcription	Stomach Smooth Muscle	stomach
26	chr1:226165400-226183800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:226165600-226184400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:226166000-226178600	Weak transcription	Fetal Brain Male	brain
29	chr1:226166200-226173600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:226166200-226174800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr1:226166400-226176200	Strong transcription	Fetal Lung	lung
32	chr1:226166600-226175600	Weak transcription	Colonic Mucosa	Colon
33	chr1:226167000-226171800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:226167000-226177400	Weak transcription	Pancreas	Pancrea
35	chr1:226167000-226179600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:226167000-226185000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:226167200-226174200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:226167200-226176000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:226167200-226176000	Strong transcription	Fetal Kidney	kidney
40	chr1:226167400-226171600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:226167400-226176000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:226167400-226176000	Strong transcription	HUVEC	blood vessel
43	chr1:226167400-226176200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:226167400-226176200	Strong transcription	Brain Hippocampus Middle	brain
45	chr1:226167400-226176400	Strong transcription	Dnd41	blood
46	chr1:226167400-226182400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:226167400-226183600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:226167600-226171600	Strong transcription	NHEK	skin
49	chr1:226167600-226183000	Strong transcription	NH-A	brain
50	chr1:226167600-226183200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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