Variant report

Variant	rs72811148
Chromosome Location	chr5:179933920-179933921
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179932398..179934837-chr5:179942777..179944702,2	K562	blood:
2	chr5:179923677..179925323-chr5:179932980..179935315,2	MCF-7	breast:
3	chr5:179932250..179934206-chr5:179936886..179939142,2	MCF-7	breast:
4	chr5:179922992..179929395-chr5:179931202..179936163,8	K562	blood:
5	chr5:179933515..179935509-chr5:179936709..179938826,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1043287	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55673143	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55688275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55999117	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56231520	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	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61740192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405546	1.00[ASN][1000 genomes]
rs72811134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811145	1.00[AMR][1000 genomes];1.00[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	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812935	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812937	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812939	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812941	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812944	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812945	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812946	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812949	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812951	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812957	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812960	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812965	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812966	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812969	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812971	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812973	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812978	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812979	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812980	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812981	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812983	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812984	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814954	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814958	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814971	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814974	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814977	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814986	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814988	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814991	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72815000	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816959	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816960	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816961	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816964	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816965	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816968	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816970	0.82[EUR][1000 genomes]
rs72816972	0.82[EUR][1000 genomes]
rs7728141	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1023537	chr5:179791679-179982822	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv537985	chr5:179791679-179982822	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1019519	chr5:179866730-179959408	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	17 gene(s)	inside rSNPs	diseases
11	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

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179923000-179934600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:179923200-179936400	Weak transcription	Fetal Intestine Large	intestine
3	chr5:179923400-179946000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:179923600-179934400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:179923600-179934400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:179923600-179942000	Weak transcription	Spleen	Spleen
7	chr5:179923600-179949800	Weak transcription	Gastric	stomach
8	chr5:179923600-179949800	Weak transcription	Psoas Muscle	Psoas
9	chr5:179923600-179957000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:179923800-179934600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:179923800-179935400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:179923800-179941200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:179924000-179934600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:179924000-179934600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:179924000-179935200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:179924000-179948000	Weak transcription	A549	lung
17	chr5:179924000-179949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:179924200-179949200	Weak transcription	Pancreas	Pancrea
19	chr5:179924200-179949600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:179924200-179950000	Weak transcription	Brain Angular Gyrus	brain
21	chr5:179924600-179934000	Weak transcription	HSMM	muscle
22	chr5:179924600-179941600	Weak transcription	Brain Germinal Matrix	brain
23	chr5:179924600-179944800	Weak transcription	Fetal Brain Male	brain
24	chr5:179924600-179944800	Weak transcription	Fetal Lung	lung
25	chr5:179924600-179949800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:179924600-179957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:179925000-179936200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:179925600-179943800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:179925600-179945600	Weak transcription	Lung	lung
30	chr5:179925800-179934600	Weak transcription	Ovary	ovary
31	chr5:179925800-179934600	Weak transcription	Thymus	Thymus
32	chr5:179925800-179935000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:179925800-179949200	Weak transcription	Left Ventricle	heart
34	chr5:179926000-179934400	Weak transcription	Fetal Stomach	stomach
35	chr5:179926000-179947600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:179926200-179934800	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:179926800-179948600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:179927000-179937000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr5:179927000-179946000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:179927000-179947800	Weak transcription	NHEK	skin
41	chr5:179927000-179948000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:179927000-179954400	Weak transcription	Hela-S3	cervix
43	chr5:179927200-179934000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:179927200-179934600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr5:179927200-179934600	Weak transcription	Fetal Intestine Small	intestine
46	chr5:179927400-179945800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:179927400-179948200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:179927400-179948200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:179927400-179949200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr5:179927400-179949200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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