Variant report

Variant	rs748678
Chromosome Location	chr13:50274673-50274674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11839475	0.82[ASN][1000 genomes]
rs12428286	0.82[ASN][1000 genomes]
rs1407439	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2273817	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35150514	0.80[ASN][1000 genomes]
rs35526541	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3742096	0.95[CEU][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap]
rs56006419	0.88[ASN][1000 genomes]
rs58303577	0.80[EUR][1000 genomes]
rs61959916	0.88[ASN][1000 genomes]
rs61959917	0.88[ASN][1000 genomes]
rs61959930	0.82[ASN][1000 genomes]
rs61959931	0.88[ASN][1000 genomes]
rs61959935	0.83[ASN][1000 genomes]
rs61959938	0.96[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6561556	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7321073	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7321709	0.88[ASN][1000 genomes]
rs7332209	0.92[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs734223	0.88[ASN][1000 genomes]
rs7982919	0.90[CEU][hapmap]
rs7983049	0.89[CEU][hapmap]
rs7996689	0.90[CEU][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap]
rs7999786	1.00[JPT][hapmap]
rs9526599	0.83[CEU][hapmap]
rs9535314	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535320	0.80[EUR][1000 genomes]
rs9535323	0.80[EUR][1000 genomes]
rs9535325	0.80[EUR][1000 genomes]
rs9535327	0.80[EUR][1000 genomes]
rs9535346	1.00[JPT][hapmap]

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	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50266000-50278200	Weak transcription	Lung	lung
2	chr13:50266000-50284200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:50266200-50275000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr13:50266200-50275000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:50266200-50275000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr13:50266200-50275000	Weak transcription	Fetal Brain Male	brain
7	chr13:50266200-50275000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:50266200-50275000	Weak transcription	Thymus	Thymus
9	chr13:50266200-50275000	Weak transcription	GM12878-XiMat	blood
10	chr13:50266200-50275000	Weak transcription	Hela-S3	cervix
11	chr13:50266200-50275000	Weak transcription	NHDF-Ad	bronchial
12	chr13:50266200-50275200	Weak transcription	Brain Hippocampus Middle	brain
13	chr13:50266200-50275200	Weak transcription	HSMMtube	muscle
14	chr13:50266200-50275400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr13:50266200-50275400	Weak transcription	Brain Substantia Nigra	brain
16	chr13:50266200-50275400	Weak transcription	Fetal Kidney	kidney
17	chr13:50266200-50275400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr13:50266200-50275400	Weak transcription	Right Ventricle	heart
19	chr13:50266200-50275400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr13:50266200-50275600	Weak transcription	Fetal Lung	lung
21	chr13:50266200-50279200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:50266200-50279400	Weak transcription	Brain Angular Gyrus	brain
23	chr13:50266200-50279400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr13:50266200-50282200	Weak transcription	Brain Germinal Matrix	brain
25	chr13:50266200-50285600	Weak transcription	NHLF	lung
26	chr13:50266200-50286000	Weak transcription	Psoas Muscle	Psoas
27	chr13:50266200-50289400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr13:50266200-50289600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr13:50266200-50295200	Weak transcription	Spleen	Spleen
30	chr13:50266200-50296000	Weak transcription	K562	blood
31	chr13:50266200-50298600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:50266200-50298800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr13:50266200-50307800	Weak transcription	Gastric	stomach
34	chr13:50266200-50316000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr13:50266400-50274800	Weak transcription	Primary B cells from cord blood	blood
36	chr13:50266400-50274800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr13:50266400-50274800	Weak transcription	HMEC	breast
38	chr13:50266400-50275000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr13:50266400-50275000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr13:50266400-50275000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr13:50266400-50275000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr13:50266400-50275000	Weak transcription	Brain Anterior Caudate	brain
43	chr13:50266400-50275000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr13:50266400-50275000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr13:50266400-50275200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr13:50266400-50275200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr13:50266400-50275400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr13:50266400-50275400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr13:50266400-50275400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:50266400-50275400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links