Variant report

Variant	rs4656723
Chromosome Location	chr1:169793248-169793249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169789201..169792181-chr1:169792666..169794813,2	K562	blood:
2	chr1:169785072..169788918-chr1:169790525..169793425,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10489175	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11577641	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11578817	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579102	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11579709	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11581959	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11582552	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11585093	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11589659	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11589671	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11590604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16828209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16862683	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16862705	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420510	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2420511	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34657513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35196850	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3753312	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3766138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3766139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3766145	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766146	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3766150	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3817859	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4656198	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4656201	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4656720	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4656722	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4656726	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55806711	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57805301	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58111285	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60191157	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60315765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61807812	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61807813	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61807814	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61807817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61807818	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61807835	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61807840	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6685211	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73026253	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv1814601	chr1:169782006-169885186	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv1821503	chr1:169782006-169885186	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv1847722	chr1:169782006-169885186	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv2757760	chr1:169782006-169885186	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv2758976	chr1:169782006-169885186	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv428268	chr1:169782006-169885186	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1845220	chr1:169782006-169933886	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169764800-169793400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:169764800-169795200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:169764800-169796200	Weak transcription	Spleen	Spleen
4	chr1:169764800-169818200	Weak transcription	Esophagus	oesophagus
5	chr1:169764800-169818200	Weak transcription	Lung	lung
6	chr1:169764800-169823600	Weak transcription	Gastric	stomach
7	chr1:169765000-169808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:169765000-169821800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:169765200-169793400	Weak transcription	Fetal Kidney	kidney
10	chr1:169765200-169797400	Weak transcription	HSMMtube	muscle
11	chr1:169765200-169802000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:169765200-169807800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:169765200-169808000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:169765200-169809000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:169765200-169814800	Weak transcription	Brain Anterior Caudate	brain
16	chr1:169765200-169815200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:169765200-169818800	Weak transcription	Brain Angular Gyrus	brain
18	chr1:169765200-169820600	Weak transcription	Psoas Muscle	Psoas
19	chr1:169765200-169823400	Weak transcription	Right Ventricle	heart
20	chr1:169765400-169796800	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:169765400-169798400	Weak transcription	Brain Germinal Matrix	brain
22	chr1:169765400-169798400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:169765400-169808000	Weak transcription	Fetal Heart	heart
24	chr1:169765400-169822600	Weak transcription	Colonic Mucosa	Colon
25	chr1:169765600-169808000	Weak transcription	Small Intestine	intestine
26	chr1:169765600-169818200	Weak transcription	NHLF	lung
27	chr1:169765800-169808000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:169765800-169815200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:169765800-169818400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:169766000-169796800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:169766000-169797000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:169766000-169797400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:169773400-169796200	Weak transcription	HMEC	breast
34	chr1:169773400-169798400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:169773400-169808000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:169773800-169796200	Weak transcription	NH-A	brain
37	chr1:169773800-169796200	Weak transcription	Osteobl	bone
38	chr1:169774800-169796200	Weak transcription	HUVEC	blood vessel
39	chr1:169774800-169796400	Weak transcription	Fetal Intestine Large	intestine
40	chr1:169774800-169800800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:169776200-169796000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:169776400-169793400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:169776400-169808000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr1:169777200-169797800	Weak transcription	Fetal Brain Female	brain
45	chr1:169777200-169798600	Weak transcription	Hela-S3	cervix
46	chr1:169777400-169796600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:169777400-169815400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:169782800-169799800	Weak transcription	NHDF-Ad	bronchial
49	chr1:169783200-169793400	Weak transcription	A549	lung
50	chr1:169784000-169814000	Weak transcription	Brain Inferior Temporal Lobe	brain

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