Variant report

Variant	rs7607093
Chromosome Location	chr2:54659174-54659175
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10198148	0.88[ASN][1000 genomes]
rs10198625	0.88[ASN][1000 genomes]
rs10779939	0.82[ASN][1000 genomes]
rs11125538	0.88[ASN][1000 genomes]
rs11898505	0.87[EUR][1000 genomes]
rs12713257	0.94[ASN][1000 genomes]
rs13392262	0.94[ASN][1000 genomes]
rs34748765	0.88[ASN][1000 genomes]
rs3951717	0.94[ASN][1000 genomes]
rs4024576	0.87[EUR][1000 genomes]
rs4233947	0.88[ASN][1000 genomes]
rs4233948	0.88[ASN][1000 genomes]
rs4233949	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4315567	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4359699	0.88[ASN][1000 genomes]
rs4439997	0.82[ASN][1000 genomes]
rs4450644	0.88[ASN][1000 genomes]
rs4588223	0.94[ASN][1000 genomes]
rs4671213	0.94[ASN][1000 genomes]
rs4671214	0.88[ASN][1000 genomes]
rs4671215	0.88[ASN][1000 genomes]
rs4671923	0.88[ASN][1000 genomes]
rs4671924	0.88[ASN][1000 genomes]
rs4671926	0.88[ASN][1000 genomes]
rs4671928	0.88[ASN][1000 genomes]
rs6545403	0.94[ASN][1000 genomes]
rs6710292	0.94[ASN][1000 genomes]
rs6718253	0.88[ASN][1000 genomes]
rs6734097	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748228	0.88[ASN][1000 genomes]
rs6752877	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760027	0.94[ASN][1000 genomes]
rs7565489	0.94[ASN][1000 genomes]
rs7576075	0.88[ASN][1000 genomes]
rs7592359	0.94[ASN][1000 genomes]
rs7592641	0.94[ASN][1000 genomes]
rs7595929	0.82[ASN][1000 genomes]
rs7597837	0.88[ASN][1000 genomes]
rs8179723	0.88[ASN][1000 genomes]
rs9677336	0.88[ASN][1000 genomes]
rs9677338	0.88[ASN][1000 genomes]
rs9679192	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54654000-54663200	Enhancers	Fetal Muscle Leg	muscle
2	chr2:54654000-54664200	Enhancers	Adipose Nuclei	Adipose
3	chr2:54654200-54660200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:54654400-54660600	Enhancers	Fetal Brain Male	brain
5	chr2:54654800-54660600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:54655200-54659800	Enhancers	Stomach Smooth Muscle	stomach
7	chr2:54655200-54660400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:54656000-54660200	Enhancers	Fetal Heart	heart
9	chr2:54656200-54660200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr2:54656600-54660200	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:54656800-54660000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:54656800-54660200	Enhancers	Right Atrium	heart
13	chr2:54656800-54663200	Enhancers	Fetal Lung	lung
14	chr2:54656800-54665200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:54657000-54659200	Weak transcription	Fetal Kidney	kidney
16	chr2:54657200-54659800	Enhancers	Brain Substantia Nigra	brain
17	chr2:54657200-54660200	Enhancers	Brain Anterior Caudate	brain
18	chr2:54657200-54660200	Enhancers	Psoas Muscle	Psoas
19	chr2:54657400-54660200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:54657800-54660400	Weak transcription	HSMMtube	muscle
21	chr2:54658200-54659200	Weak transcription	Brain Angular Gyrus	brain
22	chr2:54658200-54660800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr2:54658400-54659200	Weak transcription	Fetal Stomach	stomach
24	chr2:54658400-54659400	Weak transcription	HUVEC	blood vessel
25	chr2:54658400-54660200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:54658400-54662200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:54658400-54665400	Weak transcription	Pancreas	Pancrea
28	chr2:54658600-54659600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:54658600-54659600	Weak transcription	Ovary	ovary
30	chr2:54658600-54659600	Weak transcription	Right Ventricle	heart
31	chr2:54658600-54659800	Weak transcription	Lung	lung
32	chr2:54658600-54660400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:54658600-54664000	Weak transcription	Spleen	Spleen
34	chr2:54658800-54659200	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:54658800-54659200	Weak transcription	Left Ventricle	heart
36	chr2:54658800-54660000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:54658800-54660200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr2:54659000-54659800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:54659000-54659800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr2:54659000-54660000	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links