Variant report

Variant	rs7317750
Chromosome Location	chr13:37584838-37584839
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	chr13:37582706..37585251-chr13:37601863..37604219,2	K562	blood:
2	chr13:37570200..37576399-chr13:37580273..37587423,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102710	Chromatin interaction
ENSG00000120697	Chromatin interaction
ENSG00000120699	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1199962	0.90[CEU][hapmap]
rs1199963	0.90[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs1199974	0.90[CEU][hapmap]
rs1199981	0.90[CEU][hapmap]
rs1199982	0.90[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs1199983	0.90[CEU][hapmap]
rs1199984	0.90[CEU][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap]
rs12865199	0.89[EUR][1000 genomes]
rs1543738	0.88[ASW][hapmap];0.90[CEU][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1764483	0.90[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs1924418	0.88[ASW][hapmap];0.88[GIH][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1924419	0.97[EUR][1000 genomes]
rs1924420	0.96[EUR][1000 genomes]
rs1924421	0.84[EUR][1000 genomes]
rs1924422	1.00[CEU][hapmap];0.87[GIH][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs1937761	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2093817	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2147169	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs2181787	0.94[EUR][1000 genomes]
rs2181788	0.91[CEU][hapmap];0.86[LWK][hapmap];0.86[MKK][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs2186157	0.97[EUR][1000 genomes]
rs2323165	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2769543	0.80[CEU][hapmap]
rs2785620	0.90[CEU][hapmap];0.87[TSI][hapmap]
rs3858859	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4291799	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4624036	0.82[EUR][1000 genomes]
rs4941854	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs4941855	0.96[EUR][1000 genomes]
rs4941856	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4943441	0.83[ASW][hapmap];0.90[CEU][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap]
rs568992	0.83[EUR][1000 genomes]
rs587505	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs6563506	0.91[CEU][hapmap];0.89[LWK][hapmap];0.86[MKK][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs6563507	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs6563508	0.90[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs6563509	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs675108	0.82[CEU][hapmap]
rs688280	0.81[CEU][hapmap]
rs71432622	0.85[EUR][1000 genomes]
rs7320899	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7321129	1.00[CEU][hapmap];0.87[GIH][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs7329314	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7334233	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7338929	0.88[ASW][hapmap];1.00[CEU][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7982674	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7983986	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7984730	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7989205	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7989380	0.90[CEU][hapmap]
rs7991057	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7991181	1.00[EUR][1000 genomes]
rs7997310	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8001662	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9315458	0.87[EUR][1000 genomes]
rs9315459	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9531998	0.97[EUR][1000 genomes]
rs9532001	1.00[CEU][hapmap];0.85[GIH][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs9532002	0.97[EUR][1000 genomes]
rs9532004	1.00[CEU][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs9532005	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs9547707	1.00[CEU][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs9547712	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9547715	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9547717	0.91[CEU][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes]
rs9547718	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9547721	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9576153	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9576154	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9594181	0.97[EUR][1000 genomes]
rs9603121	1.00[CEU][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv522336	chr13:37305641-37584838	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7317750	FAM48A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37575400-37631200	Weak transcription	Stomach Mucosa	stomach
2	chr13:37575600-37592800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:37576000-37592600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:37576200-37606200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:37576200-37623800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:37576400-37588600	Weak transcription	Hela-S3	cervix
7	chr13:37576400-37595400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr13:37576400-37607600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:37576400-37608600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:37576400-37618800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:37576400-37623800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr13:37576600-37586800	Strong transcription	HSMM	muscle
13	chr13:37576600-37587400	Strong transcription	Placenta	Placenta
14	chr13:37576600-37600400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:37576600-37608400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:37576600-37623000	Strong transcription	Liver	Liver
17	chr13:37576600-37625800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr13:37576800-37586200	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr13:37576800-37588400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:37576800-37600600	Strong transcription	HUVEC	blood vessel
21	chr13:37576800-37603000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:37576800-37609000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:37576800-37621200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr13:37576800-37623200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr13:37577000-37585000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr13:37577000-37585400	Strong transcription	Fetal Lung	lung
27	chr13:37577000-37585400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr13:37577000-37586400	Strong transcription	Primary B cells from cord blood	blood
29	chr13:37577000-37586400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr13:37577000-37586400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:37577000-37586400	Strong transcription	Stomach Smooth Muscle	stomach
32	chr13:37577000-37587600	Strong transcription	HepG2	liver
33	chr13:37577000-37588200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:37577000-37588400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:37577000-37591600	Strong transcription	NH-A	brain
36	chr13:37577000-37608400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr13:37577000-37608600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:37577000-37623000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:37577000-37623400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr13:37577000-37624400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr13:37577200-37585200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:37577200-37586400	Strong transcription	Brain Hippocampus Middle	brain
43	chr13:37577200-37591600	Strong transcription	HMEC	breast
44	chr13:37577200-37623200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr13:37577200-37625200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr13:37577200-37625800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr13:37577200-37625800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr13:37577400-37585400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr13:37577400-37585400	Strong transcription	HSMMtube	muscle
50	chr13:37577400-37586400	Strong transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links