Variant report

Variant	rs2199501
Chromosome Location	chr1:226442395-226442396
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10753418	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1219659	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1361559	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2306119	0.82[AMR][1000 genomes]
rs2927339	0.82[AMR][1000 genomes]
rs3008189	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3008190	0.81[AMR][1000 genomes]
rs3008191	0.81[AMR][1000 genomes]
rs3008192	0.81[AMR][1000 genomes]
rs6668540	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6703375	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7367845	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7368170	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9286999	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9629826	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2199501	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226412000-226449600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:226412000-226455400	Weak transcription	Ovary	ovary
3	chr1:226412000-226456200	Weak transcription	NH-A	brain
4	chr1:226412000-226460600	Weak transcription	Aorta	Aorta
5	chr1:226412200-226448000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:226412200-226456200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:226412200-226485400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:226412400-226442600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:226412400-226443000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:226412400-226443000	Weak transcription	Osteobl	bone
11	chr1:226412400-226446800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:226413000-226445000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:226413000-226448600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:226413200-226456200	Weak transcription	NHDF-Ad	bronchial
15	chr1:226413600-226447000	Weak transcription	Brain Germinal Matrix	brain
16	chr1:226413600-226447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:226414000-226456800	Weak transcription	Fetal Kidney	kidney
18	chr1:226414200-226447200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:226414200-226454400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:226414600-226457000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:226414800-226443000	Weak transcription	Placenta	Placenta
22	chr1:226414800-226484600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:226415400-226473800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:226415600-226450000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:226415800-226495400	Weak transcription	Liver	Liver
26	chr1:226416200-226495600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:226416400-226457400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:226416800-226443400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:226418400-226455400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr1:226418400-226484600	Weak transcription	Right Ventricle	heart
31	chr1:226421800-226457400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:226422800-226445000	Weak transcription	NHLF	lung
33	chr1:226424400-226449800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:226425000-226452200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:226425000-226456200	Weak transcription	HMEC	breast
36	chr1:226425000-226456600	Weak transcription	NHEK	skin
37	chr1:226425000-226474200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:226425600-226447800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:226426200-226446800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:226426200-226449000	Weak transcription	Fetal Brain Female	brain
41	chr1:226426600-226445400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:226426800-226447800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:226427000-226447800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:226427000-226450200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:226427800-226448000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr1:226432000-226443400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:226432400-226443400	Strong transcription	Dnd41	blood
48	chr1:226432800-226452400	Weak transcription	Fetal Intestine Large	intestine
49	chr1:226433000-226450200	Weak transcription	A549	lung
50	chr1:226434200-226496000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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