Variant report

Variant	rs8011424
Chromosome Location	chr14:69272256-69272257
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69270505..69278428-chr14:69279681..69285729,13	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11846601	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11848561	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56944540	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57487210	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs57544284	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs61025486	1.00[EUR][1000 genomes]
rs7141082	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73279154	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060189	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8008250	0.80[AFR][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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8011424	Hs.304334	cis	multi-tissue	Pritchard

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69263200-69273000	Weak transcription	Ovary	ovary
2	chr14:69263200-69273200	Weak transcription	HSMM	muscle
3	chr14:69263600-69273200	Weak transcription	NH-A	brain
4	chr14:69264200-69273200	Weak transcription	Right Atrium	heart
5	chr14:69264200-69273600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:69264200-69277800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:69264400-69272600	Weak transcription	HSMMtube	muscle
8	chr14:69264400-69281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:69264800-69273200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:69268000-69273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:69269000-69273200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:69269200-69273400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:69269800-69273200	Weak transcription	Lung	lung
14	chr14:69271400-69273400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:69271400-69277000	Enhancers	Colon Smooth Muscle	Colon
16	chr14:69271600-69273400	Enhancers	Stomach Smooth Muscle	stomach
17	chr14:69271600-69281200	Enhancers	Fetal Muscle Leg	muscle
18	chr14:69271600-69281200	Enhancers	Fetal Stomach	stomach
19	chr14:69271800-69273200	Enhancers	Rectal Smooth Muscle	rectum
20	chr14:69271800-69275600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr14:69271800-69277200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:69272000-69272800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr14:69272000-69273200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:69272200-69272400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:69272200-69272800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:69272200-69273200	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr14:69272200-69273200	Weak transcription	Fetal Heart	heart
28	chr14:69272200-69273200	Enhancers	GM12878-XiMat	blood
29	chr14:69272200-69273800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:69272200-69275200	Enhancers	Small Intestine	intestine
31	chr14:69272200-69275400	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr14:69272200-69275800	Enhancers	Stomach Mucosa	stomach
33	chr14:69272200-69277000	Enhancers	Placenta	Placenta

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