Variant report

Variant	rs16890800
Chromosome Location	chr5:61799440-61799441
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:61793500..61795640-chr5:61797559..61799676,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10058598	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10060044	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10069594	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10069988	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10077586	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10079618	0.81[AMR][1000 genomes]
rs101091	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12517326	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1301064	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1301065	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1477358	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs152186	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs152204	0.82[ASN][1000 genomes]
rs152205	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs152210	0.83[ASN][1000 genomes]
rs247231	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs247232	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs247237	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs247242	0.82[ASN][1000 genomes]
rs247243	0.82[ASN][1000 genomes]
rs247250	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs247251	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs247259	0.82[ASN][1000 genomes]
rs247262	0.83[ASN][1000 genomes]
rs247264	0.82[ASN][1000 genomes]
rs247479	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs26635	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs26639	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs26642	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs27448	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs27449	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs27931	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35119	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35202928	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4700494	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57199871	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs767159	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7717143	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs784916	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs784918	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9632387	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
3	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv881729	chr5:61719506-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv881730	chr5:61750667-61883581	Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1020713	chr5:61786309-61921150	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv537770	chr5:61786309-61921150	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv881731	chr5:61794164-61941043	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61709800-61809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr5:61728400-61807600	Weak transcription	Psoas Muscle	Psoas
3	chr5:61728800-61838200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:61730000-61834200	Weak transcription	Gastric	stomach
5	chr5:61732800-61805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:61739200-61862800	Weak transcription	Brain Substantia Nigra	brain
7	chr5:61744800-61838600	Weak transcription	Colonic Mucosa	Colon
8	chr5:61748000-61862800	Weak transcription	Right Ventricle	heart
9	chr5:61758800-61890000	Weak transcription	Small Intestine	intestine
10	chr5:61759000-61834200	Weak transcription	Esophagus	oesophagus
11	chr5:61760800-61847200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:61763800-61809600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr5:61764000-61833800	Weak transcription	Fetal Brain Female	brain
14	chr5:61764000-61858200	Weak transcription	Placenta	Placenta
15	chr5:61764200-61818000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:61764200-61821200	Weak transcription	Aorta	Aorta
17	chr5:61764200-61826600	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:61764200-61827000	Weak transcription	Thymus	Thymus
19	chr5:61764200-61830000	Weak transcription	Brain Angular Gyrus	brain
20	chr5:61764200-61895800	Weak transcription	Pancreas	Pancrea
21	chr5:61764400-61801200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:61766200-61849800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:61771200-61864800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:61771400-61804000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:61771400-61863000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:61771800-61811400	Weak transcription	HMEC	breast
27	chr5:61772000-61801200	Weak transcription	NH-A	brain
28	chr5:61772200-61850800	Weak transcription	HSMMtube	muscle
29	chr5:61772600-61842000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:61773600-61813400	Weak transcription	NHDF-Ad	bronchial
31	chr5:61773800-61803000	Weak transcription	NHLF	lung
32	chr5:61774200-61827000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:61775000-61811600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:61775200-61829200	Weak transcription	Brain Germinal Matrix	brain
35	chr5:61781600-61867600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:61785600-61811400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:61787000-61811400	Weak transcription	HUVEC	blood vessel
38	chr5:61787200-61836000	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:61787400-61799800	Weak transcription	K562	blood
40	chr5:61787400-61818600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:61787400-61829000	Weak transcription	Brain Anterior Caudate	brain
42	chr5:61787400-61866800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr5:61788200-61802600	Weak transcription	Fetal Kidney	kidney
44	chr5:61788600-61811200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:61788800-61827000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:61789400-61835400	Weak transcription	Fetal Brain Male	brain
47	chr5:61791600-61801000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:61791800-61802400	Weak transcription	Fetal Intestine Large	intestine
49	chr5:61792600-61826800	Weak transcription	Hela-S3	cervix
50	chr5:61792800-61802000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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