Variant report

Variant	rs62019079
Chromosome Location	chr15:50734926-50734927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50715577..50719329-chr15:50732574..50736255,6	K562	blood:
2	chr15:50651031..50653997-chr15:50733049..50735643,2	K562	blood:
3	chr15:50733467..50735069-chr15:50739321..50742183,2	K562	blood:
4	chr15:50728047..50730000-chr15:50733480..50736822,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264109	Chromatin interaction
ENSG00000259715	Chromatin interaction
ENSG00000138592	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10519276	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10519278	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11070774	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070775	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070780	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070781	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070785	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070786	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070787	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070788	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11630309	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11631351	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11631398	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11632697	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11632708	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11632823	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11633608	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11633624	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11633765	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11634832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11637031	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11637104	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11637111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11638198	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11638390	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12439248	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12440152	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17519466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17519536	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17597852	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17597915	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17598061	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2414044	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2414045	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34659874	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4380013	0.84[EUR][1000 genomes]
rs4774569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4774570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4774571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4774572	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775883	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775884	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775885	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775888	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775889	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62016938	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016939	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016940	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016944	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016945	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016947	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019074	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019078	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62019080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019084	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019085	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019087	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62019112	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62019113	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62019115	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62019116	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62019117	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7165464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168783	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7169778	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7170114	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7181536	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7182569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7182980	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7494907	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8030373	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8037446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8037553	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs934636	0.99[AMR][1000 genomes];1.00[EUR][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	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv904210	chr15:50702058-50786024	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1040717	chr15:50715572-50846521	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50717400-50747000	Weak transcription	Aorta	Aorta
2	chr15:50717600-50764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:50717600-50774800	Weak transcription	Stomach Mucosa	stomach
4	chr15:50717800-50738600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:50717800-50758800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:50718000-50755400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:50718000-50757000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:50718400-50740400	Weak transcription	Fetal Heart	heart
9	chr15:50722800-50764600	Weak transcription	Esophagus	oesophagus
10	chr15:50723200-50743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:50723600-50735000	Weak transcription	Colon Smooth Muscle	Colon
12	chr15:50724600-50755800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr15:50724800-50764600	Weak transcription	Pancreas	Pancrea
14	chr15:50725600-50737000	Weak transcription	NHEK	skin
15	chr15:50728200-50736800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr15:50728200-50750200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr15:50729400-50737400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr15:50729600-50739200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr15:50730000-50735200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr15:50730400-50737600	Strong transcription	Fetal Stomach	stomach
21	chr15:50730400-50744400	Strong transcription	Fetal Intestine Small	intestine
22	chr15:50730600-50737400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr15:50730800-50737200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr15:50730800-50737200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr15:50730800-50754200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr15:50731000-50737400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:50731000-50740600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr15:50731000-50748800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:50731200-50735200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr15:50731200-50735400	Strong transcription	NH-A	brain
31	chr15:50731200-50737200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr15:50731200-50737200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:50731200-50737200	Strong transcription	Adipose Nuclei	Adipose
34	chr15:50731200-50737200	Strong transcription	HepG2	liver
35	chr15:50731200-50737400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr15:50731200-50737400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:50731200-50737400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:50731200-50737400	Strong transcription	Placenta	Placenta
39	chr15:50731200-50737600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr15:50731200-50739200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:50731200-50742600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:50731200-50748400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr15:50731400-50737200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr15:50731400-50737200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:50731400-50737400	Strong transcription	Liver	Liver
46	chr15:50731400-50737800	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr15:50731600-50737200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr15:50731600-50737200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr15:50731600-50737200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr15:50731600-50737400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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