Variant report

Variant	rs59353994
Chromosome Location	chr14:45580211-45580212
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	chr14:45551908..45554831-chr14:45578936..45581671,3	MCF-7	breast:
2	chr14:45552419..45555134-chr14:45577335..45584385,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249163	Chromatin interaction
ENSG00000185246	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10130368	0.89[EUR][1000 genomes]
rs10130377	0.89[EUR][1000 genomes]
rs10131066	0.87[EUR][1000 genomes]
rs10134071	0.82[EUR][1000 genomes]
rs10134598	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10135085	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10136008	0.80[EUR][1000 genomes]
rs10138997	0.91[EUR][1000 genomes]
rs10140222	0.82[EUR][1000 genomes]
rs10140318	0.82[EUR][1000 genomes]
rs10141474	0.89[EUR][1000 genomes]
rs10143806	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10145092	0.82[EUR][1000 genomes]
rs10146395	0.82[EUR][1000 genomes]
rs10147499	0.82[EUR][1000 genomes]
rs1053667	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11844832	0.89[EUR][1000 genomes]
rs11845956	0.82[EUR][1000 genomes]
rs11847336	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849208	0.82[EUR][1000 genomes]
rs12100842	0.82[EUR][1000 genomes]
rs17115787	0.82[EUR][1000 genomes]
rs17115809	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17115811	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2016738	1.00[ASN][1000 genomes]
rs2033385	0.91[EUR][1000 genomes]
rs28370281	0.91[EUR][1000 genomes]
rs28448551	0.82[EUR][1000 genomes]
rs28572336	0.82[EUR][1000 genomes]
rs28594810	0.82[EUR][1000 genomes]
rs28622413	0.82[EUR][1000 genomes]
rs28637857	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28681969	0.82[EUR][1000 genomes]
rs3783700	1.00[ASN][1000 genomes]
rs3783702	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825625	0.91[EUR][1000 genomes]
rs3825627	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3825628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56706956	0.82[EUR][1000 genomes]
rs56836063	0.89[EUR][1000 genomes]
rs57003561	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57602646	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57614513	0.82[EUR][1000 genomes]
rs57694277	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58826926	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59073313	0.85[AFR][1000 genomes]
rs60891427	0.82[EUR][1000 genomes]
rs61155826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61707578	0.82[EUR][1000 genomes]
rs7146566	0.89[EUR][1000 genomes]
rs72474138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73334913	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73340611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73340622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73340626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73340630	0.85[AFR][1000 genomes]
rs73340634	0.83[AFR][1000 genomes]
rs73340655	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73340659	0.91[EUR][1000 genomes]
rs73348065	0.82[EUR][1000 genomes]
rs73348069	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73348076	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73348079	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73348088	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73348095	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73349820	0.89[EUR][1000 genomes]
rs73349835	0.90[ASN][1000 genomes]
rs73349842	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73349853	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73349857	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73349858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73349868	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73352233	0.82[EUR][1000 genomes]
rs73353657	0.86[AMR][1000 genomes]
rs7493823	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8009193	0.91[EUR][1000 genomes]
rs8015453	0.82[EUR][1000 genomes]
rs8017844	0.91[EUR][1000 genomes]
rs8022499	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8022608	0.82[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	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	chr14:45554000-45585400	Weak transcription	Gastric	stomach
2	chr14:45554400-45585400	Weak transcription	Esophagus	oesophagus
3	chr14:45554600-45602600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:45555000-45586200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:45556400-45582000	Weak transcription	Fetal Brain Male	brain
6	chr14:45557400-45602200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:45559000-45591800	Weak transcription	Small Intestine	intestine
8	chr14:45560200-45582000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:45560200-45599800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:45562000-45599200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:45563400-45598600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:45563600-45580400	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr14:45563600-45599600	Strong transcription	Dnd41	blood
14	chr14:45563800-45601600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:45564000-45592800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:45564000-45595000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:45564000-45596200	Strong transcription	Placenta	Placenta
18	chr14:45564000-45599200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:45564000-45599800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:45564000-45600200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr14:45564200-45581200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:45564200-45582200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:45564200-45589200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:45564200-45593400	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr14:45564200-45599200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:45564200-45599200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr14:45564200-45599200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:45564200-45601600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr14:45564400-45581000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr14:45564400-45582000	Strong transcription	Osteobl	bone
31	chr14:45564400-45582400	Strong transcription	Liver	Liver
32	chr14:45564400-45593400	Strong transcription	Adipose Nuclei	Adipose
33	chr14:45564400-45598400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr14:45564400-45599000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:45564400-45599200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:45564400-45599200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr14:45564400-45599800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:45564800-45602200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:45565000-45580400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:45566000-45586200	Weak transcription	Pancreas	Pancrea
41	chr14:45566200-45582000	Weak transcription	K562	blood
42	chr14:45568400-45591000	Strong transcription	GM12878-XiMat	blood
43	chr14:45568800-45582600	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr14:45569000-45581800	Strong transcription	HUVEC	blood vessel
45	chr14:45569000-45582200	Strong transcription	Fetal Lung	lung
46	chr14:45571200-45587400	Strong transcription	NHDF-Ad	bronchial
47	chr14:45571600-45582000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr14:45571600-45582600	Strong transcription	HSMM	muscle
49	chr14:45573000-45581800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:45573200-45598800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links