Variant report

Variant	rs13431982
Chromosome Location	chr2:48432921-48432922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48431668..48433629-chr2:48442154..48444145,2	MCF-7	breast:
2	chr2:48430653..48432447-chr2:48432583..48435502,2	K562	blood:
3	chr2:48432585..48437809-chr2:48438116..48442314,6	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10495950	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11674475	0.94[EUR][1000 genomes]
rs11676381	0.94[EUR][1000 genomes]
rs11676925	0.83[EUR][1000 genomes]
rs11677205	1.00[GIH][hapmap];0.91[TSI][hapmap]
rs11677590	0.81[EUR][1000 genomes]
rs11679956	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11680162	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11680404	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs11680657	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11681876	1.00[EUR][1000 genomes]
rs11683689	0.98[EUR][1000 genomes]
rs11687670	1.00[EUR][1000 genomes]
rs11687989	0.84[EUR][1000 genomes]
rs11689736	0.94[EUR][1000 genomes]
rs11689818	0.84[EUR][1000 genomes]
rs11691493	0.94[EUR][1000 genomes]
rs11692660	0.90[CEU][hapmap];0.81[TSI][hapmap]
rs11693267	0.94[EUR][1000 genomes]
rs11695799	0.81[EUR][1000 genomes]
rs11695923	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11889493	0.94[EUR][1000 genomes]
rs11895219	0.85[MKK][hapmap]
rs17324965	0.95[EUR][1000 genomes]
rs17325048	1.00[EUR][1000 genomes]
rs17325209	0.92[EUR][1000 genomes]
rs17396793	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs17397094	0.93[EUR][1000 genomes]
rs2014675	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2840147	0.87[EUR][1000 genomes]
rs34135365	0.94[EUR][1000 genomes]
rs4530419	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55802119	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56037709	0.82[EUR][1000 genomes]
rs58032869	0.87[EUR][1000 genomes]
rs58136909	0.86[EUR][1000 genomes]
rs6730166	0.95[EUR][1000 genomes]
rs6733558	0.90[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs6745620	0.90[CEU][hapmap]
rs6747738	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6759056	0.94[EUR][1000 genomes]
rs7561696	0.84[EUR][1000 genomes]
rs7571905	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7581510	0.95[EUR][1000 genomes]
rs7583719	0.90[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs952468	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1005241	chr2:48413134-48493182	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2762552	chr2:48413146-48493182	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv457407	chr2:48414735-48493182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv581774	chr2:48414735-48493182	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1001850	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv535681	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48423800-48435800	Weak transcription	Right Atrium	heart
2	chr2:48424600-48434000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:48424800-48434000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:48426200-48434000	Weak transcription	Spleen	Spleen
5	chr2:48426200-48436200	Weak transcription	Right Ventricle	heart
6	chr2:48426400-48433800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:48426800-48433800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:48426800-48434000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:48426800-48436400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:48427400-48433800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:48428200-48433800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:48429400-48433200	Enhancers	Liver	Liver
13	chr2:48431200-48435000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:48431400-48435000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:48431800-48433000	Enhancers	Gastric	stomach
16	chr2:48431800-48433400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:48431800-48433400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:48432000-48433200	Flanking Active TSS	HepG2	liver
19	chr2:48432000-48433400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:48432200-48433200	Active TSS	Brain Substantia Nigra	brain
21	chr2:48432200-48433600	Enhancers	Primary B cells from peripheral blood	blood
22	chr2:48432200-48434000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:48432200-48434800	Enhancers	Primary B cells from cord blood	blood
24	chr2:48432400-48433000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:48432400-48433000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:48432400-48433200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:48432400-48433200	Active TSS	Brain Cingulate Gyrus	brain
28	chr2:48432400-48433200	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr2:48432400-48433600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:48432400-48434600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr2:48432400-48435200	Enhancers	K562	blood
32	chr2:48432600-48433000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:48432600-48433000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:48432600-48433000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:48432600-48433000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:48432600-48433000	Enhancers	Fetal Muscle Leg	muscle
37	chr2:48432600-48433200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:48432600-48433200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:48432600-48433200	Enhancers	NHLF	lung
40	chr2:48432600-48433400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:48432600-48433400	Enhancers	HSMM	muscle
42	chr2:48432600-48434600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr2:48432800-48433000	Enhancers	Fetal Lung	lung
44	chr2:48432800-48433000	Active TSS	GM12878-XiMat	blood
45	chr2:48432800-48433200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:48432800-48433200	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr2:48432800-48433200	Active TSS	Brain Hippocampus Middle	brain
48	chr2:48432800-48433200	Flanking Active TSS	Osteobl	bone
49	chr2:48432800-48433600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:48432800-48433600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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