Variant report

Variant	rs72816968
Chromosome Location	chr5:180006415-180006416
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:180006097-180006441	K562	blood:	n/a	n/a
2	POLR2A	chr5:180006284-180007049	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:180006185-180006440	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:180006311-180006906	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179987248..179989879-chr5:180004376..180006674,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263759	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1043287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55673143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55688275	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55999117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56231520	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56318449	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56357267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61740192	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405546	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72811134	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811138	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811140	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811143	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811145	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811148	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811158	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811160	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811161	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811164	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811166	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811168	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812928	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812934	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812935	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812937	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812939	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812941	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812944	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812945	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812946	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812949	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812951	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812957	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812960	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812965	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812966	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812969	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812971	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812973	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812978	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812979	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812980	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812981	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812983	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812984	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814954	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814958	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814971	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814974	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814977	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72815000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7728141	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	esv2762572	chr5:179996987-180183359	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179970800-180006600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:179976200-180007200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:179993200-180007600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:179993400-180007200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:179993400-180008000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:179994200-180013800	Weak transcription	NHEK	skin
7	chr5:179995200-180009200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:180000800-180006800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:180001200-180008600	Weak transcription	Right Ventricle	heart
10	chr5:180001200-180012400	Weak transcription	Fetal Intestine Small	intestine
11	chr5:180001200-180012400	Weak transcription	Lung	lung
12	chr5:180001400-180007000	Weak transcription	Aorta	Aorta
13	chr5:180001400-180007400	Weak transcription	Brain Anterior Caudate	brain
14	chr5:180001400-180007600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:180001400-180008000	Weak transcription	NHLF	lung
16	chr5:180001400-180008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:180001400-180008600	Weak transcription	Thymus	Thymus
18	chr5:180001400-180009600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:180001400-180010000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:180001400-180010400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:180001600-180006600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:180001600-180007800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:180001600-180010800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:180001800-180006800	Weak transcription	Brain Substantia Nigra	brain
25	chr5:180001800-180007800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:180002000-180006800	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:180002600-180009200	Weak transcription	Fetal Brain Female	brain
28	chr5:180002800-180008400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:180003400-180007000	Weak transcription	Left Ventricle	heart
30	chr5:180003400-180007400	Weak transcription	Adipose Nuclei	Adipose
31	chr5:180003400-180008800	Weak transcription	Fetal Stomach	stomach
32	chr5:180003600-180007400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:180003600-180008400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:180003600-180015600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr5:180003800-180007400	Weak transcription	NHDF-Ad	bronchial
36	chr5:180003800-180007800	Weak transcription	Hela-S3	cervix
37	chr5:180003800-180008400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr5:180003800-180009800	Weak transcription	HUVEC	blood vessel
39	chr5:180003800-180010000	Weak transcription	Osteobl	bone
40	chr5:180003800-180012200	Weak transcription	Primary T cells from cord blood	blood
41	chr5:180003800-180015000	Weak transcription	K562	blood
42	chr5:180004000-180008800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr5:180004400-180007000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:180004600-180006800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:180004600-180007400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr5:180004600-180008000	Weak transcription	HMEC	breast
47	chr5:180004600-180009200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:180004800-180007000	Weak transcription	Fetal Lung	lung
49	chr5:180004800-180007000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:180004800-180007200	Weak transcription	Psoas Muscle	Psoas

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