Variant report

Variant	rs73276769
Chromosome Location	chr5:154159387-154159388
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:154153749..154156019-chr5:154157510..154160380,3	MCF-7	breast:
2	chr5:154135063..154138225-chr5:154157391..154160359,3	MCF-7	breast:
3	chr5:154032750..154034923-chr5:154157447..154159549,2	K562	blood:
4	chr5:154158515..154161284-chr5:154235913..154238462,2	K562	blood:
5	chr5:154158451..154160663-chr5:154164358..154166909,3	MCF-7	breast:
6	chr5:154151385..154153346-chr5:154159128..154160723,2	MCF-7	breast:
7	chr5:154132476..154143251-chr5:154145354..154162500,38	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155508	Chromatin interaction
ENSG00000155506	Chromatin interaction

Extended variants
information (count: 151 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs10042134	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13181649	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1390600	0.85[EUR][1000 genomes]
rs1390601	0.85[EUR][1000 genomes]
rs1390602	0.85[EUR][1000 genomes]
rs1390603	0.85[EUR][1000 genomes]
rs164192	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs164193	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs164194	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs164196	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs164197	0.81[AMR][1000 genomes]
rs164198	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs164199	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17116671	0.86[EUR][1000 genomes]
rs17116677	0.85[EUR][1000 genomes]
rs17116679	0.85[EUR][1000 genomes]
rs17116683	0.85[EUR][1000 genomes]
rs17116701	0.85[EUR][1000 genomes]
rs180903	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs184703	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs185323	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs186998	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs189439	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2059045	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2112219	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2112222	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2544827	0.81[EUR][1000 genomes]
rs2544862	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2544870	0.88[ASN][1000 genomes]
rs2544871	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2544872	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2544873	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2544877	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2544881	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2544882	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2544883	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2544885	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs255530	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs255531	0.80[ASN][1000 genomes]
rs2560069	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2644745	0.88[ASN][1000 genomes]
rs2644747	0.81[AMR][1000 genomes]
rs2644748	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2688183	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2688185	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2688192	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2688202	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2688209	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs32426	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs346572	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs346573	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348734	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348736	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348737	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348738	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348746	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348753	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs348755	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs348758	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3776982	0.88[ASN][1000 genomes]
rs39615	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39953	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40584	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4958393	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4958769	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4958770	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4958772	0.81[AMR][1000 genomes]
rs4958774	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58395756	0.85[EUR][1000 genomes]
rs59025588	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59919514	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60476447	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60906140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61511229	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61554631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580117	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6580118	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6580119	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6580121	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6580124	0.85[EUR][1000 genomes]
rs6879093	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs702743	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73276745	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73276760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276766	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276780	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73278805	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73278819	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73278843	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73280717	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73280724	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73280726	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73280747	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73280749	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73280750	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73280761	0.90[EUR][1000 genomes]
rs73280762	0.90[EUR][1000 genomes]
rs73280768	0.90[EUR][1000 genomes]
rs73280770	0.85[EUR][1000 genomes]
rs73280778	0.85[EUR][1000 genomes]
rs73280785	0.85[EUR][1000 genomes]
rs73280786	0.85[EUR][1000 genomes]
rs73280788	0.85[EUR][1000 genomes]
rs73280792	0.85[EUR][1000 genomes]
rs73280795	0.85[EUR][1000 genomes]
rs73280797	0.81[EUR][1000 genomes]
rs73280799	0.85[EUR][1000 genomes]
rs73282508	0.85[EUR][1000 genomes]
rs73282513	0.85[EUR][1000 genomes]
rs73282516	0.85[EUR][1000 genomes]
rs73282519	0.85[EUR][1000 genomes]
rs73282521	0.85[EUR][1000 genomes]
rs73282523	0.85[EUR][1000 genomes]
rs73282525	0.85[EUR][1000 genomes]
rs73282527	0.85[EUR][1000 genomes]
rs73282528	0.85[EUR][1000 genomes]
rs73282533	0.85[EUR][1000 genomes]
rs73282538	0.85[EUR][1000 genomes]
rs73282539	0.85[EUR][1000 genomes]
rs73282553	0.85[EUR][1000 genomes]
rs73282555	0.85[EUR][1000 genomes]
rs73282558	0.85[EUR][1000 genomes]
rs7703040	0.85[EUR][1000 genomes]
rs7703227	0.85[EUR][1000 genomes]
rs7703386	0.85[EUR][1000 genomes]
rs7703765	0.85[EUR][1000 genomes]
rs7719208	0.85[EUR][1000 genomes]
rs7720521	0.82[ASN][1000 genomes]
rs7720538	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7722949	0.85[EUR][1000 genomes]
rs7723741	0.85[EUR][1000 genomes]
rs7724303	0.85[EUR][1000 genomes]
rs7724660	0.85[EUR][1000 genomes]
rs7727176	1.00[EUR][1000 genomes]
rs7733367	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs816715	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs816716	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs816733	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs816736	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs816737	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs816738	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs816739	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs816740	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs816742	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs816744	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs816745	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs816746	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs816748	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs863650	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830521	chr5:154147567-154244266	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv965536	chr5:154155200-154163441	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154147400-154161800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:154150200-154159400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr5:154151200-154162200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:154151200-154162800	Weak transcription	Primary B cells from cord blood	blood
5	chr5:154151400-154159400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:154151400-154159600	Weak transcription	Thymus	Thymus
7	chr5:154151400-154161600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:154151600-154161400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:154151600-154161800	Weak transcription	Fetal Lung	lung
10	chr5:154151600-154162200	Weak transcription	Fetal Brain Female	brain
11	chr5:154151600-154163000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:154151600-154163400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr5:154151600-154171200	Weak transcription	Fetal Brain Male	brain
14	chr5:154151800-154161800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:154152600-154168200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr5:154152600-154168400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr5:154154000-154162000	Weak transcription	Esophagus	oesophagus
18	chr5:154154200-154159400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:154154400-154159400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:154155200-154162200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:154155400-154159400	Weak transcription	Fetal Stomach	stomach
22	chr5:154155400-154161400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr5:154155400-154161400	Weak transcription	Brain Angular Gyrus	brain
24	chr5:154155600-154159600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:154155800-154160600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:154155800-154161800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:154156000-154159400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:154156000-154161400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:154156000-154161400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:154156000-154162200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:154156000-154163400	Weak transcription	Brain Germinal Matrix	brain
32	chr5:154156200-154159400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:154156200-154161600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:154156400-154159400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:154156400-154161600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:154156400-154162200	Weak transcription	Aorta	Aorta
37	chr5:154156800-154159400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:154156800-154159600	Weak transcription	Fetal Heart	heart
39	chr5:154156800-154161200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:154156800-154161200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:154157200-154159600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:154157800-154159400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:154157800-154160000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:154157800-154160000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr5:154157800-154160200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:154157800-154160400	Enhancers	Brain Hippocampus Middle	brain
47	chr5:154157800-154164200	Enhancers	Liver	Liver
48	chr5:154157800-154168000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:154157800-154168200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr5:154157800-154168200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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