Variant report

Variant	rs8135
Chromosome Location	chr14:77940860-77940861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77933031..77935818-chr14:77938168..77941645,3	MCF-7	breast:
2	chr14:77936196..77939744-chr14:77940216..77943828,4	MCF-7	breast:
3	chr14:77940273..77941885-chr14:77943418..77945561,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100591	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1008669	0.84[ASW][hapmap]
rs11851627	0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs176782	0.84[ASW][hapmap]
rs2364159	0.84[ASW][hapmap]
rs4243655	0.84[ASW][hapmap]
rs7152486	0.92[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8021513	0.94[YRI][hapmap];0.86[AFR][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	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8135	NGFRAP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77936000-77941000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:77936000-77944600	Weak transcription	GM12878-XiMat	blood
3	chr14:77936200-77941000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:77936200-77941000	Weak transcription	Fetal Lung	lung
5	chr14:77936200-77948600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:77936400-77944800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr14:77936400-77945000	Weak transcription	Gastric	stomach
8	chr14:77936400-77946000	Weak transcription	Brain Angular Gyrus	brain
9	chr14:77936600-77947200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:77936800-77945000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr14:77937000-77945000	Weak transcription	Spleen	Spleen
12	chr14:77939400-77941800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:77940200-77941400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:77940400-77941400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:77940400-77941600	Enhancers	Adipose Nuclei	Adipose
16	chr14:77940400-77942400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr14:77940600-77941200	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr14:77940600-77941600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:77940600-77948600	Weak transcription	Fetal Kidney	kidney
20	chr14:77940800-77941400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:77940800-77941400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:77940800-77941600	Genic enhancers	Placenta	Placenta
23	chr14:77940800-77945400	Strong transcription	HepG2	liver

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