Variant report

Variant	rs994099
Chromosome Location	chr5:16559756-16559757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10053236	0.85[CHB][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1020952	0.84[CHB][hapmap];0.81[JPT][hapmap];0.92[YRI][hapmap];0.93[ASN][1000 genomes]
rs12109050	0.85[CHB][hapmap];0.81[JPT][hapmap];0.92[YRI][hapmap];0.93[ASN][1000 genomes]
rs1240647	0.86[ASN][1000 genomes]
rs1551936	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162758	0.84[CHB][hapmap];0.81[JPT][hapmap];0.92[YRI][hapmap];0.93[ASN][1000 genomes]
rs1991468	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1991469	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1991470	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991471	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991472	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2019248	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2019260	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2560829	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2560830	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2560831	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2560832	0.84[ASN][1000 genomes]
rs2617422	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2617423	0.93[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2617424	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2617425	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2617426	0.93[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs31283	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs31288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334485	0.80[ASN][1000 genomes]
rs334486	0.80[ASN][1000 genomes]
rs334487	0.80[ASN][1000 genomes]
rs425779	0.80[ASN][1000 genomes]
rs6858960	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs899186	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs991891	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881187	chr5:16514269-16654960	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16522400-16567400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:16542600-16567200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr5:16543200-16591600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:16543600-16589800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:16544000-16562400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:16544200-16565200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr5:16545000-16574600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr5:16549200-16569000	Weak transcription	Left Ventricle	heart
9	chr5:16549200-16580200	Weak transcription	Gastric	stomach
10	chr5:16553000-16568600	Weak transcription	NHDF-Ad	bronchial
11	chr5:16553000-16573400	Weak transcription	Fetal Intestine Small	intestine
12	chr5:16553200-16562000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr5:16553200-16564600	Weak transcription	Psoas Muscle	Psoas
14	chr5:16553200-16564600	Weak transcription	Thymus	Thymus
15	chr5:16553400-16564200	Weak transcription	Fetal Heart	heart
16	chr5:16553400-16569600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:16553400-16572800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:16555200-16571400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:16556400-16569600	Weak transcription	Primary B cells from cord blood	blood
20	chr5:16556600-16560800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr5:16556800-16561200	Enhancers	Brain Cingulate Gyrus	brain
22	chr5:16556800-16567600	Weak transcription	Fetal Thymus	thymus
23	chr5:16557600-16561400	Enhancers	Brain Hippocampus Middle	brain
24	chr5:16558000-16569000	Weak transcription	Brain Germinal Matrix	brain
25	chr5:16558200-16561200	Enhancers	Brain Anterior Caudate	brain
26	chr5:16558200-16561200	Enhancers	Brain Substantia Nigra	brain
27	chr5:16558400-16560200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:16558400-16560400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:16558400-16561400	Enhancers	Brain Angular Gyrus	brain
30	chr5:16559200-16559800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:16559200-16560800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:16559200-16561200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:16559200-16561200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr5:16559200-16563000	Strong transcription	Primary T cells from cord blood	blood
35	chr5:16559400-16560800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr5:16559400-16561000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:16559400-16564600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:16559400-16568200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:16559600-16560600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:16559600-16560800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr5:16559600-16560800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:16559600-16561200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:16559600-16574400	Weak transcription	Fetal Brain Female	brain

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