Variant report

Variant	rs4624036
Chromosome Location	chr13:37521738-37521739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10507444	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1199962	0.81[CEU][hapmap]
rs1199963	0.81[CEU][hapmap]
rs1199974	0.81[CEU][hapmap]
rs1199981	0.81[CEU][hapmap]
rs1199982	0.81[CEU][hapmap]
rs1199983	0.81[CEU][hapmap]
rs1199984	0.81[CEU][hapmap]
rs1199997	1.00[ASN][1000 genomes]
rs1199998	1.00[ASN][1000 genomes]
rs1200000	1.00[ASN][1000 genomes]
rs1200001	1.00[ASN][1000 genomes]
rs1200002	1.00[ASN][1000 genomes]
rs1200003	1.00[ASN][1000 genomes]
rs1336165	1.00[ASN][1000 genomes]
rs1543738	0.81[CEU][hapmap]
rs17054770	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17054775	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17054789	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17054790	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17054829	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17054838	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17054925	1.00[ASN][1000 genomes]
rs17054972	1.00[ASN][1000 genomes]
rs1764483	0.81[CEU][hapmap]
rs1924419	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1924420	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1924421	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924422	0.91[CEU][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1937761	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs2093817	0.81[CEU][hapmap]
rs2147169	0.91[CEU][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs2181788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2323165	0.91[CEU][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs2769542	1.00[CHB][hapmap]
rs2785620	0.81[CEU][hapmap]
rs4291799	0.91[CEU][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs4941854	0.91[CEU][hapmap];0.82[TSI][hapmap]
rs4941856	0.91[CEU][hapmap];0.82[TSI][hapmap]
rs4943441	0.81[CEU][hapmap]
rs568992	0.80[AMR][1000 genomes]
rs57719094	1.00[ASN][1000 genomes]
rs59899061	1.00[ASN][1000 genomes]
rs59901477	1.00[ASN][1000 genomes]
rs608385	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6563506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563507	0.91[CEU][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs6563508	0.81[CEU][hapmap]
rs7317750	0.91[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs7321129	0.91[CEU][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7329314	0.82[EUR][1000 genomes]
rs7334233	0.81[EUR][1000 genomes]
rs7338929	0.91[CEU][hapmap];0.82[TSI][hapmap]
rs73533924	1.00[ASN][1000 genomes]
rs73543820	1.00[ASN][1000 genomes]
rs7982674	0.81[EUR][1000 genomes]
rs7983986	0.91[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs7989205	0.91[CEU][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs7989380	0.81[CEU][hapmap]
rs7991057	0.91[CEU][hapmap]
rs7991181	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7997310	0.81[CEU][hapmap]
rs8001410	1.00[ASN][1000 genomes]
rs9315459	0.81[EUR][1000 genomes]
rs9531998	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9532000	0.81[EUR][1000 genomes]
rs9532001	0.91[CEU][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9532002	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9532004	0.91[CEU][hapmap];0.80[AMR][1000 genomes]
rs9532005	0.91[CEU][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs9547703	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs9547704	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs9547705	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9547707	0.91[CEU][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9547712	0.82[EUR][1000 genomes]
rs9547715	0.91[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs9547717	0.82[CEU][hapmap]
rs9547718	0.91[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs9576153	0.81[EUR][1000 genomes]
rs9576154	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs9594181	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9594184	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs9603121	0.91[CEU][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes]
rs9603124	1.00[CHB][hapmap];1.00[ASN][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
rs4624036	FAM48A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37515400-37533000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:37516800-37525200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:37517200-37538400	Weak transcription	Fetal Brain Male	brain
4	chr13:37517600-37529000	Weak transcription	Thymus	Thymus
5	chr13:37519000-37522600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr13:37519000-37524000	Weak transcription	Primary B cells from cord blood	blood
7	chr13:37519200-37523200	Weak transcription	NHDF-Ad	bronchial
8	chr13:37519400-37522200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:37519400-37527600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:37519400-37528800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr13:37519600-37522200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:37519600-37522200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr13:37519600-37522800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:37519600-37523000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr13:37519600-37525400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:37519600-37561400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr13:37519800-37522800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:37519800-37523000	Weak transcription	Fetal Intestine Large	intestine
19	chr13:37519800-37523000	Weak transcription	Dnd41	blood
20	chr13:37520000-37522200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:37520000-37522800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr13:37520000-37523800	Weak transcription	Placenta	Placenta
23	chr13:37520000-37524800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:37520200-37522000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr13:37520200-37522600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr13:37520200-37522600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:37520200-37522600	Weak transcription	HUVEC	blood vessel
28	chr13:37520200-37522800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr13:37520200-37523000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr13:37520200-37523000	Weak transcription	Brain Anterior Caudate	brain
31	chr13:37520200-37523000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr13:37520200-37524200	Weak transcription	Fetal Thymus	thymus
33	chr13:37520200-37524800	Weak transcription	Brain Angular Gyrus	brain
34	chr13:37520400-37522600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:37520400-37522800	Weak transcription	HSMM	muscle
36	chr13:37520400-37523000	Weak transcription	Left Ventricle	heart
37	chr13:37520400-37538000	Weak transcription	Colonic Mucosa	Colon
38	chr13:37520600-37522200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr13:37520600-37522200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr13:37520600-37522400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr13:37520600-37522600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:37520600-37522800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr13:37520600-37523000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr13:37520600-37560800	Weak transcription	Small Intestine	intestine
45	chr13:37520800-37523200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr13:37520800-37529000	Weak transcription	Gastric	stomach
47	chr13:37520800-37529400	Weak transcription	HMEC	breast
48	chr13:37520800-37538000	Weak transcription	HepG2	liver
49	chr13:37521000-37522600	Weak transcription	Fetal Brain Female	brain
50	chr13:37521000-37522600	Weak transcription	Fetal Intestine Small	intestine

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