Variant report

Variant	rs9576148
Chromosome Location	chr13:37552386-37552387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:37545917..37548370-chr13:37551450..37554036,3	K562	blood:
2	chr13:37546822..37548370-chr13:37551450..37554036,2	K562	blood:
3	chr13:37393248..37395074-chr13:37551244..37553486,2	K562	blood:

Variant related genes	Relation type
ENSG00000133111	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1924420	0.82[AMR][1000 genomes]
rs9532002	0.82[AMR][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
rs9576148	FAM48A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37519600-37561400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:37520600-37560800	Weak transcription	Small Intestine	intestine
3	chr13:37523200-37558200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:37524000-37563800	Weak transcription	Psoas Muscle	Psoas
5	chr13:37524600-37572400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:37525000-37560800	Weak transcription	Fetal Heart	heart
7	chr13:37526600-37556200	Weak transcription	Brain Angular Gyrus	brain
8	chr13:37526800-37559400	Weak transcription	Hela-S3	cervix
9	chr13:37529400-37558200	Weak transcription	Gastric	stomach
10	chr13:37529600-37555600	Weak transcription	Stomach Mucosa	stomach
11	chr13:37531800-37570000	Strong transcription	Dnd41	blood
12	chr13:37535200-37553600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr13:37539000-37558400	Weak transcription	Colonic Mucosa	Colon
14	chr13:37539000-37561000	Weak transcription	Aorta	Aorta
15	chr13:37539200-37558000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr13:37539400-37561000	Weak transcription	Right Ventricle	heart
17	chr13:37539400-37562400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr13:37539600-37558200	Weak transcription	Brain Germinal Matrix	brain
19	chr13:37539600-37562400	Weak transcription	Fetal Brain Male	brain
20	chr13:37539800-37557600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr13:37540200-37553800	Weak transcription	HSMMtube	muscle
22	chr13:37540200-37558800	Weak transcription	Fetal Kidney	kidney
23	chr13:37540200-37561400	Weak transcription	Esophagus	oesophagus
24	chr13:37540200-37562200	Weak transcription	K562	blood
25	chr13:37540400-37558400	Weak transcription	Brain Substantia Nigra	brain
26	chr13:37540800-37556200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr13:37541000-37554200	Weak transcription	NHEK	skin
28	chr13:37541000-37558600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr13:37542000-37553000	Weak transcription	HepG2	liver
30	chr13:37542400-37556400	Weak transcription	Colon Smooth Muscle	Colon
31	chr13:37543200-37558400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr13:37543400-37553800	Weak transcription	NHLF	lung
33	chr13:37543600-37556400	Weak transcription	HSMM	muscle
34	chr13:37545600-37553400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr13:37545600-37561200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr13:37545800-37554800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr13:37545800-37557000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr13:37545800-37558400	Weak transcription	Spleen	Spleen
39	chr13:37546200-37556200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr13:37547200-37554000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr13:37547400-37554000	Strong transcription	Liver	Liver
42	chr13:37547400-37570000	Strong transcription	Fetal Thymus	thymus
43	chr13:37547800-37559800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:37547800-37570200	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr13:37548200-37554000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:37548200-37555600	Weak transcription	NH-A	brain
47	chr13:37548400-37556400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:37548400-37556400	Weak transcription	Primary B cells from cord blood	blood
49	chr13:37548800-37552400	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr13:37549000-37554000	Strong transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links