Variant report

Variant	rs34044131
Chromosome Location	chr2:100874627-100874628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100873531..100875703-chr2:100970860..100973010,2	K562	blood:
2	chr2:100873599..100875237-chr2:100876970..100878624,2	MCF-7	breast:
3	chr2:100866864..100870366-chr2:100873270..100876644,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10170878	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173499	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199107	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11886523	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12463633	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464433	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464505	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12467008	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12472141	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12611915	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13394110	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13397010	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13397337	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871341	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4851281	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4851282	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55856206	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57328601	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60501704	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148117	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148118	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6707358	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6722320	0.80[EUR][1000 genomes]
rs6724490	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727712	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72819202	0.88[AMR][1000 genomes]
rs72821104	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72821119	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72821120	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821122	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821124	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821125	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821126	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821130	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821133	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100864200-100879800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:100865800-100879800	Weak transcription	Right Atrium	heart
3	chr2:100873000-100875000	Enhancers	Fetal Brain Male	brain
4	chr2:100873000-100875200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:100873200-100875600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:100874000-100874800	Enhancers	Colon Smooth Muscle	Colon
7	chr2:100874000-100875000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:100874000-100875000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:100874000-100875000	Enhancers	NH-A	brain
10	chr2:100874000-100875200	Enhancers	Rectal Smooth Muscle	rectum
11	chr2:100874200-100874800	Enhancers	Fetal Heart	heart
12	chr2:100874200-100874800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:100874200-100874800	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr2:100874200-100875000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:100874200-100876400	Weak transcription	Fetal Brain Female	brain
16	chr2:100874400-100875000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:100874400-100875000	Enhancers	Ovary	ovary
18	chr2:100874400-100875000	Enhancers	Osteobl	bone
19	chr2:100874600-100875000	Enhancers	Right Ventricle	heart
20	chr2:100874600-100879200	Weak transcription	Brain Angular Gyrus	brain
21	chr2:100874600-100891400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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