Variant report

Variant	rs59919514
Chromosome Location	chr5:154152440-154152441
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:154151385..154153346-chr5:154159128..154160723,2	MCF-7	breast:
2	chr5:154135565..154137927-chr5:154149655..154152565,3	MCF-7	breast:
3	chr5:154132476..154143251-chr5:154145354..154162500,38	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155506	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:143)

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]
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	0.96[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	0.96[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	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2544873	0.85[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	0.88[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	0.88[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	0.85[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	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs32426	0.93[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40584	0.88[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]
rs60476447	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60906140	0.97[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	0.97[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	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73276760	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276769	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276780	0.95[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]
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	0.93[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:1 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154138200-154156000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr5:154144600-154157200	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr5:154146600-154153800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:154147400-154161800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:154148200-154155800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:154148400-154153000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:154148400-154154200	Enhancers	Adipose Nuclei	Adipose
8	chr5:154148400-154155400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:154148400-154156000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:154149200-154153000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:154149400-154153200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:154149600-154153200	Weak transcription	Hela-S3	cervix
13	chr5:154150200-154152800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:154150200-154159400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr5:154150400-154153000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr5:154150400-154153800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:154150600-154153400	Enhancers	NH-A	brain
18	chr5:154150800-154152800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:154151200-154153000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:154151200-154156000	Weak transcription	Fetal Intestine Large	intestine
21	chr5:154151200-154156800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:154151200-154162200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:154151200-154162800	Weak transcription	Primary B cells from cord blood	blood
24	chr5:154151400-154152600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:154151400-154152600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr5:154151400-154152600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:154151400-154152600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:154151400-154152600	Weak transcription	Fetal Heart	heart
29	chr5:154151400-154152600	Weak transcription	Small Intestine	intestine
30	chr5:154151400-154152800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:154151400-154152800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:154151400-154152800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:154151400-154152800	Weak transcription	Gastric	stomach
34	chr5:154151400-154152800	Weak transcription	Pancreas	Pancrea
35	chr5:154151400-154152800	Weak transcription	GM12878-XiMat	blood
36	chr5:154151400-154153000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:154151400-154153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:154151400-154153000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:154151400-154153000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:154151400-154153000	Weak transcription	Aorta	Aorta
41	chr5:154151400-154153000	Weak transcription	Liver	Liver
42	chr5:154151400-154153000	Weak transcription	Esophagus	oesophagus
43	chr5:154151400-154153000	Weak transcription	Right Atrium	heart
44	chr5:154151400-154153000	Weak transcription	Spleen	Spleen
45	chr5:154151400-154153200	Weak transcription	Placenta	Placenta
46	chr5:154151400-154153200	Weak transcription	Stomach Mucosa	stomach
47	chr5:154151400-154153800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:154151400-154156000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr5:154151400-154157800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:154151400-154158000	Weak transcription	HMEC	breast

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