Variant report

Variant	rs1728219
Chromosome Location	chr1:113557705-113557706
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113542996..113545951-chr1:113556373..113557932,2	MCF-7	breast:
2	chr1:113556085..113558248-chr1:113569856..113571725,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1049434	0.80[EUR][1000 genomes]
rs11102573	0.94[ASN][1000 genomes]
rs11102574	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11102575	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11102576	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11102577	0.81[ASN][1000 genomes]
rs11584099	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11584535	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11588345	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11590170	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11590174	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12066274	0.81[ASN][1000 genomes]
rs12128904	0.93[ASN][1000 genomes]
rs12129863	0.94[ASN][1000 genomes]
rs1216603	0.95[EUR][1000 genomes]
rs1216772	0.94[ASN][1000 genomes]
rs1216773	0.94[ASN][1000 genomes]
rs1216775	0.94[ASN][1000 genomes]
rs1216779	0.95[ASN][1000 genomes]
rs1216783	0.94[ASN][1000 genomes]
rs1216784	0.91[ASN][1000 genomes]
rs1216785	0.94[ASN][1000 genomes]
rs1216790	0.81[ASN][1000 genomes]
rs12184285	0.94[ASN][1000 genomes]
rs12354228	0.94[ASN][1000 genomes]
rs12745675	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12746771	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12754835	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1544227	0.94[ASN][1000 genomes]
rs1627925	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1629027	0.86[EUR][1000 genomes]
rs17014850	0.94[ASN][1000 genomes]
rs17030901	0.94[ASN][1000 genomes]
rs17030905	0.94[ASN][1000 genomes]
rs1728218	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1728232	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1983929	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2769259	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2798691	0.94[ASN][1000 genomes]
rs2798692	0.94[ASN][1000 genomes]
rs34233065	0.94[ASN][1000 genomes]
rs34565381	0.87[ASN][1000 genomes]
rs3889656	0.94[ASN][1000 genomes]
rs3951437	0.81[ASN][1000 genomes]
rs61818171	0.94[ASN][1000 genomes]
rs61818172	0.94[ASN][1000 genomes]
rs61818173	0.94[ASN][1000 genomes]
rs61818174	0.94[ASN][1000 genomes]
rs61818176	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6537764	0.82[EUR][1000 genomes]
rs6537765	0.85[EUR][1000 genomes]
rs6656041	0.94[ASN][1000 genomes]
rs6656311	0.94[ASN][1000 genomes]
rs6663872	0.82[EUR][1000 genomes]
rs71659385	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7169	0.80[EUR][1000 genomes]
rs7556664	0.81[EUR][1000 genomes]
rs773430	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs773432	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs773433	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs773434	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs773435	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs773436	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs773439	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs773440	0.88[ASN][1000 genomes]
rs773442	0.96[EUR][1000 genomes]
rs9787311	0.84[AFR][1000 genomes];0.95[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	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
10	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription 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 miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113511200-113558000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr1:113511200-113558600	Weak transcription	NHDF-Ad	bronchial
3	chr1:113511200-113564000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:113526600-113564200	Weak transcription	Placenta	Placenta
5	chr1:113526800-113558600	Weak transcription	GM12878-XiMat	blood
6	chr1:113535800-113564000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:113535800-113564000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:113535800-113564200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:113535800-113568800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:113538600-113558600	Weak transcription	Spleen	Spleen
11	chr1:113539600-113564200	Weak transcription	Brain Germinal Matrix	brain
12	chr1:113541000-113573800	Weak transcription	Right Ventricle	heart
13	chr1:113541600-113564200	Weak transcription	Osteobl	bone
14	chr1:113541800-113564000	Weak transcription	K562	blood
15	chr1:113542000-113558400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:113542000-113564000	Weak transcription	Hela-S3	cervix
17	chr1:113542800-113559200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:113543200-113574400	Weak transcription	HSMM	muscle
19	chr1:113547400-113564000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:113550800-113563400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:113551000-113564000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:113551200-113561800	Weak transcription	Dnd41	blood
23	chr1:113551200-113563200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:113551200-113564000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:113551200-113564000	Weak transcription	HMEC	breast
26	chr1:113551200-113564200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:113551200-113564400	Weak transcription	Adipose Nuclei	Adipose
28	chr1:113551200-113569800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:113551200-113569800	Weak transcription	Left Ventricle	heart
30	chr1:113551400-113558000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:113552600-113559200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:113552800-113564000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:113552800-113570200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:113553000-113560600	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:113553000-113572200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:113554400-113564000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:113554800-113557800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr1:113555200-113563400	Weak transcription	NHEK	skin
39	chr1:113555600-113572200	Weak transcription	Primary T cells from cord blood	blood
40	chr1:113555600-113584200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:113555800-113557800	Enhancers	Liver	Liver
42	chr1:113555800-113558200	Enhancers	Stomach Mucosa	stomach
43	chr1:113556000-113560800	Weak transcription	Colonic Mucosa	Colon
44	chr1:113556800-113561400	Weak transcription	HepG2	liver
45	chr1:113556800-113561600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:113556800-113564200	Weak transcription	Fetal Intestine Large	intestine
47	chr1:113556800-113564200	Weak transcription	Fetal Intestine Small	intestine
48	chr1:113557200-113561800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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