Variant report

Variant	rs2016738
Chromosome Location	chr14:45585704-45585705
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	chr14:45583471..45586315-chr14:45586445..45589553,3	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10130368	0.89[JPT][hapmap]
rs10130377	0.84[JPT][hapmap]
rs10131615	0.88[JPT][hapmap]
rs10132547	0.89[JPT][hapmap]
rs10132949	0.89[JPT][hapmap]
rs10134071	0.89[JPT][hapmap]
rs10134598	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10135085	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10135890	0.89[JPT][hapmap]
rs10138272	0.88[JPT][hapmap]
rs10138997	0.82[CHD][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap]
rs10140049	0.89[JPT][hapmap]
rs10140222	0.89[JPT][hapmap]
rs10140318	0.89[JPT][hapmap]
rs10141474	0.87[JPT][hapmap]
rs10143806	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10145092	0.88[JPT][hapmap]
rs10145267	0.89[JPT][hapmap]
rs10147499	0.89[JPT][hapmap]
rs10152101	0.89[JPT][hapmap]
rs1053667	0.82[CHD][hapmap];0.89[JPT][hapmap]
rs11157423	0.89[JPT][hapmap]
rs11157424	0.89[JPT][hapmap]
rs11844832	0.82[CHD][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap]
rs11845088	0.89[JPT][hapmap]
rs11845956	0.89[JPT][hapmap]
rs11847336	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11848799	0.89[JPT][hapmap]
rs11849208	0.89[JPT][hapmap]
rs11850363	0.89[JPT][hapmap]
rs12100842	0.88[JPT][hapmap]
rs17115703	0.89[JPT][hapmap]
rs17115718	0.89[JPT][hapmap]
rs17115787	0.82[CHD][hapmap]
rs17115809	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17115811	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2033385	0.82[CHD][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap]
rs28448551	0.89[JPT][hapmap]
rs28637857	1.00[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3783700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783702	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3825625	0.82[CHD][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap]
rs3825627	1.00[CHB][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3825628	0.94[ASN][1000 genomes]
rs3825629	0.89[JPT][hapmap]
rs4141578	0.89[JPT][hapmap]
rs57003561	0.90[ASN][1000 genomes]
rs57602646	0.87[ASN][1000 genomes]
rs58826926	0.90[ASN][1000 genomes]
rs59353994	1.00[ASN][1000 genomes]
rs61155826	0.92[ASN][1000 genomes]
rs7145831	0.89[JPT][hapmap]
rs7146566	0.89[JPT][hapmap]
rs7147644	0.89[JPT][hapmap]
rs7158846	0.89[JPT][hapmap]
rs72474138	0.94[ASN][1000 genomes]
rs73340611	0.94[ASN][1000 genomes]
rs73340622	1.00[ASN][1000 genomes]
rs73340626	1.00[ASN][1000 genomes]
rs73348060	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73348075	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73348285	0.87[AMR][1000 genomes]
rs73349816	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73349835	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73349842	0.90[ASN][1000 genomes]
rs73349853	0.85[ASN][1000 genomes]
rs73349857	0.90[ASN][1000 genomes]
rs73349858	0.88[ASN][1000 genomes]
rs73349868	0.94[ASN][1000 genomes]
rs73350007	0.87[AMR][1000 genomes]
rs73352246	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73353641	0.87[AMR][1000 genomes]
rs73353647	0.87[AMR][1000 genomes]
rs73353650	0.87[AMR][1000 genomes]
rs8006685	0.89[JPT][hapmap]
rs8009193	0.82[CHD][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap]
rs8017844	0.82[CHD][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap]
rs8022008	0.89[JPT][hapmap]
rs8022499	0.98[ASN][1000 genomes]
rs8022608	0.89[JPT][hapmap]
rs9323106	0.89[JPT][hapmap]

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	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	esv1800510	chr14:45572528-45650813	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	25 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	chr14:45554600-45602600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:45555000-45586200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:45557400-45602200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:45559000-45591800	Weak transcription	Small Intestine	intestine
5	chr14:45560200-45599800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:45562000-45599200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:45563400-45598600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:45563600-45599600	Strong transcription	Dnd41	blood
9	chr14:45563800-45601600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:45564000-45592800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:45564000-45595000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:45564000-45596200	Strong transcription	Placenta	Placenta
13	chr14:45564000-45599200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:45564000-45599800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:45564000-45600200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:45564200-45589200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:45564200-45593400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr14:45564200-45599200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:45564200-45599200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr14:45564200-45599200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:45564200-45601600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:45564400-45593400	Strong transcription	Adipose Nuclei	Adipose
23	chr14:45564400-45598400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr14:45564400-45599000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:45564400-45599200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:45564400-45599200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr14:45564400-45599800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:45564800-45602200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:45566000-45586200	Weak transcription	Pancreas	Pancrea
30	chr14:45568400-45591000	Strong transcription	GM12878-XiMat	blood
31	chr14:45571200-45587400	Strong transcription	NHDF-Ad	bronchial
32	chr14:45573200-45598800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:45573800-45602600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:45575000-45591000	Strong transcription	HMEC	breast
35	chr14:45575000-45593600	Strong transcription	Brain Hippocampus Middle	brain
36	chr14:45576600-45593400	Strong transcription	Fetal Brain Female	brain
37	chr14:45576800-45593400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:45577200-45602800	Weak transcription	Aorta	Aorta
39	chr14:45579000-45590600	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr14:45579000-45593800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr14:45579600-45589200	Weak transcription	Fetal Heart	heart
42	chr14:45579800-45585800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:45579800-45586800	Weak transcription	NHLF	lung
44	chr14:45579800-45588000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:45579800-45599400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:45580000-45586000	Weak transcription	Thymus	Thymus
47	chr14:45580000-45599200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:45580200-45585800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:45581000-45585800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:45581000-45590800	Strong transcription	Primary B cells from cord blood	blood

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