Variant report

Variant	rs7575998
Chromosome Location	chr2:48724742-48724743
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12620002	0.84[AMR][1000 genomes]
rs3811519	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4443044	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4953581	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62135167	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7575998	STON1-GTF2A1L	cis	Nerve Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48689200-48735600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:48690000-48735600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:48694000-48729400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:48694200-48753000	Weak transcription	Psoas Muscle	Psoas
5	chr2:48695200-48725800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:48695200-48728000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:48695400-48728000	Weak transcription	Hela-S3	cervix
8	chr2:48695600-48735200	Weak transcription	K562	blood
9	chr2:48698800-48729200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:48698800-48735400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:48700200-48735400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:48700600-48735600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:48703200-48729800	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:48704000-48735800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:48704400-48730000	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr2:48704600-48735400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:48704600-48735600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:48706600-48728000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:48707400-48742000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:48707600-48725800	Weak transcription	Small Intestine	intestine
21	chr2:48707600-48725800	Weak transcription	HMEC	breast
22	chr2:48707800-48725600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:48708000-48725800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:48708400-48725600	Weak transcription	Pancreas	Pancrea
25	chr2:48708400-48735400	Weak transcription	Stomach Mucosa	stomach
26	chr2:48709400-48755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:48710200-48745000	Weak transcription	Fetal Brain Male	brain
28	chr2:48710400-48735400	Weak transcription	NHLF	lung
29	chr2:48710800-48725600	Weak transcription	HUVEC	blood vessel
30	chr2:48711400-48725800	Weak transcription	Fetal Kidney	kidney
31	chr2:48711600-48725600	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:48712000-48725600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:48712000-48728200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:48712400-48734200	Weak transcription	NHEK	skin
35	chr2:48713000-48729000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:48714000-48725600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:48714000-48725600	Weak transcription	HSMMtube	muscle
38	chr2:48714200-48725600	Weak transcription	HepG2	liver
39	chr2:48714400-48727200	Weak transcription	HSMM	muscle
40	chr2:48714400-48735400	Weak transcription	Brain Germinal Matrix	brain
41	chr2:48714800-48726000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:48715400-48725600	Weak transcription	Colonic Mucosa	Colon
43	chr2:48715400-48725600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:48715400-48725800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:48715400-48725800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:48715600-48725200	Weak transcription	NHDF-Ad	bronchial
47	chr2:48715600-48725600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:48717200-48728000	Weak transcription	Esophagus	oesophagus
49	chr2:48717800-48729600	Strong transcription	Primary B cells from cord blood	blood
50	chr2:48717800-48733200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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