Variant report

Variant	rs10206992
Chromosome Location	chr2:183730527-183730528
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10177372	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10931042	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17356755	0.82[YRI][hapmap]
rs2242070	0.89[EUR][1000 genomes]
rs28796879	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs288327	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3768842	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6433993	0.88[ASN][1000 genomes]
rs6753522	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9288087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs974908	0.89[ASN][1000 genomes]
rs9973853	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1006265	chr2:183666013-183777604	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv536071	chr2:183666013-183777604	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv875484	chr2:183702964-183747442	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10206992	FRZB	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183719600-183730800	Weak transcription	Psoas Muscle	Psoas
2	chr2:183722200-183730800	Weak transcription	Placenta	Placenta
3	chr2:183723800-183730600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:183724200-183730800	Weak transcription	Right Atrium	heart
5	chr2:183726000-183730800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:183727200-183730800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:183727200-183731000	Weak transcription	Liver	Liver
8	chr2:183727800-183730600	Weak transcription	Right Ventricle	heart
9	chr2:183727800-183730800	Weak transcription	Esophagus	oesophagus
10	chr2:183728200-183731000	Weak transcription	Pancreas	Pancrea
11	chr2:183728200-183732400	Active TSS	Aorta	Aorta
12	chr2:183728800-183730800	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr2:183729200-183730600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:183729200-183730800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:183729200-183731200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr2:183729200-183732400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:183729400-183730800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:183729400-183731000	Enhancers	Fetal Brain Male	brain
19	chr2:183729600-183730800	Active TSS	Fetal Stomach	stomach
20	chr2:183729600-183732400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:183729800-183730800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:183729800-183732400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr2:183729800-183732400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr2:183730000-183730600	Enhancers	Brain Germinal Matrix	brain
25	chr2:183730000-183730800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr2:183730000-183730800	Enhancers	Fetal Heart	heart
27	chr2:183730000-183730800	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr2:183730000-183732000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr2:183730000-183732200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr2:183730000-183732600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:183730000-183732800	Active TSS	Brain Angular Gyrus	brain
32	chr2:183730200-183730800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr2:183730200-183730800	Active TSS	Ovary	ovary
34	chr2:183730200-183731200	Flanking Active TSS	Fetal Brain Female	brain
35	chr2:183730400-183730600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:183730400-183730600	Bivalent/Poised TSS	Primary B cells from peripheral blood	blood
37	chr2:183730400-183730600	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr2:183730400-183730800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
39	chr2:183730400-183730800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:183730400-183730800	Active TSS	Fetal Intestine Large	intestine
41	chr2:183730400-183730800	Active TSS	Fetal Intestine Small	intestine
42	chr2:183730400-183730800	Bivalent/Poised TSS	Fetal Thymus	thymus
43	chr2:183730400-183730800	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr2:183730400-183730800	Enhancers	NH-A	brain
45	chr2:183730400-183731000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
46	chr2:183730400-183731200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr2:183730400-183732000	Active TSS	Brain Anterior Caudate	brain
48	chr2:183730400-183732200	Bivalent/Poised TSS	Fetal Kidney	kidney
49	chr2:183730400-183732400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr2:183730400-183732400	Active TSS	Brain Hippocampus Middle	brain

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