Variant report

Variant	rs10495218
Chromosome Location	chr1:224614133-224614134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224613670..224615210-chr1:224641405..224643090,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10495221	0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11800357	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804538	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807149	0.83[AFR][1000 genomes]
rs11809688	0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs11809710	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11810160	0.86[AMR][1000 genomes]
rs11812007	0.81[YRI][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1317205	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847675	0.82[YRI][hapmap]
rs16847784	0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs16847858	0.83[AFR][1000 genomes]
rs16847867	1.00[YRI][hapmap]
rs16847870	0.86[YRI][hapmap]
rs16847871	0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs16848356	0.93[AMR][1000 genomes]
rs16848382	0.93[AMR][1000 genomes]
rs1857042	0.82[YRI][hapmap]
rs2211327	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57719044	0.82[AFR][1000 genomes]
rs58243680	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58649883	0.82[AFR][1000 genomes]
rs59734390	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs59804672	0.85[AMR][1000 genomes]
rs60063902	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs60349703	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs60627429	0.90[AFR][1000 genomes]
rs61000820	0.83[AFR][1000 genomes]
rs61590597	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687735	0.85[AMR][1000 genomes]
rs6702649	0.85[YRI][hapmap]
rs73123788	0.90[AFR][1000 genomes]
rs73123791	0.83[AFR][1000 genomes]
rs73125526	0.86[AMR][1000 genomes]
rs73125529	0.84[AFR][1000 genomes]
rs73125533	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125540	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125543	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1013149	chr1:224605943-224646382	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv535312	chr1:224605943-224646382	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224547400-224618600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:224572000-224617800	Strong transcription	Fetal Thymus	thymus
3	chr1:224572400-224617600	Strong transcription	Placenta	Placenta
4	chr1:224572600-224617600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:224572600-224617600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:224572600-224618400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:224573200-224618400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:224573200-224618400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:224573600-224614200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:224573600-224618200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:224573800-224615200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr1:224575200-224616600	Strong transcription	Dnd41	blood
13	chr1:224575200-224616800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:224576400-224614600	Strong transcription	HSMM	muscle
15	chr1:224577000-224617400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:224578800-224617200	Strong transcription	Liver	Liver
17	chr1:224579600-224617400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:224579800-224616000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr1:224581800-224615800	Strong transcription	K562	blood
20	chr1:224593400-224617000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:224595400-224618000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:224596200-224614400	Strong transcription	NHDF-Ad	bronchial
23	chr1:224596200-224614600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:224596200-224615400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:224596600-224614200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:224596600-224614600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:224596800-224614200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:224597600-224616200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr1:224598200-224617000	Strong transcription	Fetal Muscle Leg	muscle
30	chr1:224599800-224618000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:224600200-224614200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:224600200-224617400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:224601200-224614200	Strong transcription	Osteobl	bone
34	chr1:224601200-224614600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:224602200-224616400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr1:224602400-224614400	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr1:224602800-224614600	Strong transcription	HMEC	breast
38	chr1:224603600-224615200	Strong transcription	A549	lung
39	chr1:224605200-224618400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:224608200-224615000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:224608400-224620800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr1:224609600-224618400	Weak transcription	Right Atrium	heart
43	chr1:224610000-224615000	Weak transcription	Brain Angular Gyrus	brain
44	chr1:224610000-224616600	Weak transcription	Psoas Muscle	Psoas
45	chr1:224611200-224616200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:224611800-224615200	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:224612000-224614800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:224612000-224617400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:224612000-224618400	Weak transcription	Fetal Heart	heart
50	chr1:224612000-224619400	Weak transcription	Stomach Mucosa	stomach

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