Variant report

Variant	rs71524942
Chromosome Location	chr1:222862992-222862993
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222861525..222864468-chr1:222870086..222874487,3	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10495198	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1133220	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12043288	0.96[ASN][1000 genomes]
rs12138316	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17011666	0.84[ASN][1000 genomes]
rs17011681	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17163301	0.86[EUR][1000 genomes]
rs17163313	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17163345	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17163358	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17163360	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17163363	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17465637	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17465940	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17465982	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17532708	0.96[ASN][1000 genomes]
rs1909195	0.82[ASN][1000 genomes]
rs2133187	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2133189	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2270707	0.83[ASN][1000 genomes]
rs2291832	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2291834	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2378584	0.86[EUR][1000 genomes]
rs28709375	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34032254	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34767248	0.86[EUR][1000 genomes]
rs35158675	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35175385	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35626308	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35700460	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35725247	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3748626	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4282830	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4575092	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4846384	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4846770	0.86[EUR][1000 genomes]
rs61824331	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67180937	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222835200-222884600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:222839000-222877400	Weak transcription	Psoas Muscle	Psoas
3	chr1:222839000-222884600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:222839600-222884600	Weak transcription	Esophagus	oesophagus
5	chr1:222840000-222884600	Weak transcription	Colonic Mucosa	Colon
6	chr1:222841200-222866200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:222841200-222883400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:222841400-222883200	Weak transcription	Fetal Heart	heart
9	chr1:222842800-222867800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr1:222844000-222863600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:222845000-222866800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr1:222845000-222884600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:222845200-222864400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:222847800-222872000	Weak transcription	Fetal Intestine Small	intestine
15	chr1:222849200-222875600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:222849400-222875400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:222849400-222883200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:222849600-222877800	Weak transcription	Fetal Brain Female	brain
19	chr1:222851800-222866600	Strong transcription	Primary B cells from cord blood	blood
20	chr1:222852000-222868400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:222852400-222883800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:222854000-222875600	Weak transcription	NHLF	lung
23	chr1:222855200-222884600	Weak transcription	Pancreas	Pancrea
24	chr1:222855400-222873200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:222855600-222883800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:222857800-222867400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:222857800-222868000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:222858200-222864600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:222858600-222866200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:222859000-222865800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:222860000-222884600	Weak transcription	Left Ventricle	heart
32	chr1:222860200-222863400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:222860200-222863400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:222860200-222865200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:222860200-222865200	Weak transcription	HSMM	muscle
36	chr1:222860200-222865400	Weak transcription	HUVEC	blood vessel
37	chr1:222860200-222866200	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:222860200-222867800	Weak transcription	GM12878-XiMat	blood
39	chr1:222860200-222868200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:222860200-222872400	Weak transcription	K562	blood
41	chr1:222860200-222873200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:222860200-222873400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:222860200-222873800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:222860200-222874400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:222860200-222875600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr1:222860200-222875600	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:222860200-222875600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:222860200-222875600	Weak transcription	NHEK	skin
49	chr1:222860200-222877400	Weak transcription	A549	lung
50	chr1:222860200-222883000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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