Variant report

Variant	rs61042973
Chromosome Location	chr2:99438521-99438522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs2090181	0.83[ASN][1000 genomes]
rs2203432	0.83[ASN][1000 genomes]
rs2871243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2871244	0.83[ASN][1000 genomes]
rs3731660	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4851160	0.83[ASN][1000 genomes]
rs58560917	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58676789	0.85[ASN][1000 genomes]
rs59083513	0.83[ASN][1000 genomes]
rs59313126	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59989465	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60496162	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61311613	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61359279	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61402919	0.83[ASN][1000 genomes]
rs72811003	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72811004	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72811005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72827717	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72827722	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72827724	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72827727	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72827729	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72827731	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72827732	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72827733	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72827734	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72827736	0.81[ASN][1000 genomes]
rs72827739	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72827740	0.83[ASN][1000 genomes]
rs72827741	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72827742	0.83[ASN][1000 genomes]
rs72827743	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr2:99418000-99442200	Weak transcription	Stomach Mucosa	stomach
2	chr2:99423400-99439200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:99423600-99439200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:99426800-99439200	Weak transcription	Gastric	stomach
5	chr2:99427200-99439000	Weak transcription	Aorta	Aorta
6	chr2:99427400-99442000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:99435200-99439400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:99435400-99438800	Weak transcription	HMEC	breast
9	chr2:99435600-99444600	Weak transcription	Hela-S3	cervix
10	chr2:99436000-99439000	Weak transcription	Brain Substantia Nigra	brain
11	chr2:99436000-99439200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:99436000-99439200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:99436200-99438800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:99436200-99438800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:99436200-99439400	Weak transcription	Fetal Lung	lung
16	chr2:99436800-99439200	Active TSS	Adipose Nuclei	Adipose
17	chr2:99437200-99438800	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr2:99437600-99438600	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:99437600-99438800	Weak transcription	Primary B cells from cord blood	blood
20	chr2:99437600-99438800	Weak transcription	Brain Anterior Caudate	brain
21	chr2:99437600-99438800	Weak transcription	Right Atrium	heart
22	chr2:99438000-99438800	Weak transcription	HUVEC	blood vessel
23	chr2:99438000-99439000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:99438000-99440000	Weak transcription	HepG2	liver
25	chr2:99438200-99438600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr2:99438200-99438600	Strong transcription	Colonic Mucosa	Colon
27	chr2:99438200-99438600	Enhancers	Lung	lung
28	chr2:99438200-99439000	Strong transcription	Esophagus	oesophagus
29	chr2:99438200-99439000	Enhancers	Left Ventricle	heart
30	chr2:99438200-99439000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:99438400-99438600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:99438400-99438600	Genic enhancers	Pancreas	Pancrea
33	chr2:99438400-99438800	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:99438400-99439000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:99438400-99439200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr2:99438400-99439200	Enhancers	Primary T cells fromperipheralblood	blood
37	chr2:99438400-99439200	Enhancers	Primary hematopoietic stem cells	blood
38	chr2:99438400-99439200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr2:99438400-99439800	Bivalent Enhancer	Fetal Brain Male	brain
40	chr2:99438400-99440200	Flanking Active TSS	Right Ventricle	heart

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