Variant report

Variant	rs12323277
Chromosome Location	chr13:97907883-97907884
allele	C/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:97907577..97910911-chr13:97913686..97917322,4	K562	blood:
2	chr13:97892207..97896967-chr13:97905810..97911512,6	K562	blood:
3	chr13:97871729..97877100-chr13:97906704..97909666,5	MCF-7	breast:
4	chr13:97900118..97904001-chr13:97905452..97910002,7	K562	blood:
5	chr13:97905079..97913701-chr13:97925818..97929496,9	MCF-7	breast:
6	chr13:97904118..97908983-chr13:97910164..97913443,8	K562	blood:
7	chr13:97892207..97897500-chr13:97905924..97911512,9	K562	blood:
8	chr13:97906827..97909135-chr13:97910208..97912536,3	MCF-7	breast:
9	chr13:97905642..97908480-chr13:97965969..97968245,2	K562	blood:
10	chr13:97907071..97909397-chr13:97927352..97929778,2	K562	blood:
11	chr13:97876175..97879013-chr13:97906530..97908701,3	K562	blood:
12	chr13:97907616..97910279-chr13:97990865..97992598,2	MCF-7	breast:
13	chr13:97906088..97907900-chr13:97930922..97932761,2	MCF-7	breast:
14	chr13:97871969..97881145-chr13:97906530..97915784,18	K562	blood:
15	chr13:97900200..97903330-chr13:97905228..97908336,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139793	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17235593	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.88[EUR][1000 genomes]
rs17301327	1.00[MEX][hapmap]
rs17301334	0.81[GIH][hapmap];1.00[MEX][hapmap]
rs17301341	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28621077	1.00[MEX][hapmap]
rs60259333	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60830598	0.88[EUR][1000 genomes]
rs6491339	1.00[CEU][hapmap]
rs73555754	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73555756	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73555759	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73555760	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73555771	0.88[EUR][1000 genomes]
rs9584535	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045777	chr13:97875574-97955134	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12323277	FARP1	cis	lymphoblastoid	seeQTL

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97891200-97909200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr13:97891200-97909400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr13:97892600-97908800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:97892800-97909200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr13:97894600-97908600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr13:97894600-97909800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr13:97895800-97909600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr13:97898400-97909000	Weak transcription	Fetal Intestine Large	intestine
9	chr13:97899800-97909600	Weak transcription	Fetal Intestine Small	intestine
10	chr13:97900800-97910000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr13:97903000-97908000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr13:97903200-97908400	Weak transcription	Primary T cells from cord blood	blood
13	chr13:97903200-97908600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr13:97903200-97908800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr13:97903200-97909800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr13:97903200-97910000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:97903200-97910000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr13:97903200-97912600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr13:97903200-97913600	Weak transcription	Fetal Brain Male	brain
20	chr13:97903400-97908000	Weak transcription	Fetal Heart	heart
21	chr13:97903400-97920600	Weak transcription	Thymus	Thymus
22	chr13:97903600-97909800	Weak transcription	Fetal Stomach	stomach
23	chr13:97903800-97909400	Weak transcription	Fetal Kidney	kidney
24	chr13:97905000-97908200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr13:97905000-97908800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr13:97905000-97910000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:97905600-97914800	Enhancers	Small Intestine	intestine
28	chr13:97906200-97908200	Enhancers	Pancreas	Pancrea
29	chr13:97906200-97908800	Enhancers	HMEC	breast
30	chr13:97906200-97908800	Enhancers	HUVEC	blood vessel
31	chr13:97906200-97909200	Enhancers	Brain Substantia Nigra	brain
32	chr13:97906200-97909600	Enhancers	Fetal Lung	lung
33	chr13:97906200-97916200	Enhancers	Brain Angular Gyrus	brain
34	chr13:97906400-97910000	Enhancers	NH-A	brain
35	chr13:97906600-97908000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr13:97906600-97908800	Enhancers	NHEK	skin
37	chr13:97906600-97909800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:97906600-97909800	Enhancers	HSMM	muscle
39	chr13:97906600-97910200	Enhancers	Osteobl	bone
40	chr13:97906600-97910800	Enhancers	NHLF	lung
41	chr13:97906600-97913200	Enhancers	Stomach Mucosa	stomach
42	chr13:97906800-97908000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:97906800-97908000	Flanking Active TSS	Hela-S3	cervix
44	chr13:97906800-97908200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr13:97906800-97908200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr13:97906800-97908200	Enhancers	Ovary	ovary
47	chr13:97906800-97908400	Flanking Active TSS	A549	lung
48	chr13:97906800-97908800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:97906800-97909000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr13:97906800-97909800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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