Variant report

Variant	rs8018823
Chromosome Location	chr14:37718177-37718178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37713823..37721404-chr14:38030834..38039698,13	MCF-7	breast:
2	chr14:37717816..37720206-chr14:38145329..38146961,2	K562	blood:
3	chr14:37714570..37718771-chr14:37719606..37724141,5	MCF-7	breast:
4	chr14:37708906..37733371-chr14:38048131..38068843,170	MCF-7	breast:
5	chr14:37715456..37719212-chr14:38032266..38035206,4	MCF-7	breast:
6	chr14:37709149..37730989-chr14:38048141..38067789,135	MCF-7	breast:
7	chr14:37718130..37720442-chr14:38122398..38124870,2	MCF-7	breast:
8	chr1:45187178..45188919-chr14:37715615..37718367,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139865	Chromatin interaction
ENSG00000129514	Chromatin interaction
ENSG00000259087	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000258414	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10132070	0.85[EUR][1000 genomes]
rs10135285	0.82[CEU][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs10136217	0.84[EUR][1000 genomes]
rs10136464	0.84[EUR][1000 genomes]
rs10137231	0.80[EUR][1000 genomes]
rs10139240	0.83[EUR][1000 genomes]
rs10139649	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140175	0.85[EUR][1000 genomes]
rs10148078	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10150704	0.82[CEU][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs1080374	0.88[ASN][1000 genomes]
rs1117024	0.88[ASN][1000 genomes]
rs11850049	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11850688	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12882311	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12883655	0.88[ASN][1000 genomes]
rs12883794	0.88[ASN][1000 genomes]
rs12883863	0.80[CEU][hapmap];0.83[TSI][hapmap]
rs12884046	0.88[ASN][1000 genomes]
rs12884204	0.80[CEU][hapmap];0.82[CHD][hapmap]
rs12886692	0.80[ASW][hapmap];0.82[YRI][hapmap]
rs12891038	0.85[EUR][1000 genomes]
rs12893503	0.80[CEU][hapmap];0.82[CHD][hapmap]
rs12894536	0.80[CEU][hapmap];0.82[CHD][hapmap]
rs12896336	0.80[CEU][hapmap]
rs12897482	0.85[EUR][1000 genomes]
rs1474886	0.80[CEU][hapmap]
rs1535137	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17554224	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs17768249	0.80[CEU][hapmap];0.82[CHD][hapmap]
rs1950526	0.80[CEU][hapmap];0.82[CHD][hapmap]
rs1955949	0.80[CEU][hapmap]
rs2006729	0.80[CEU][hapmap]
rs2093119	0.82[CEU][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs2415389	0.85[EUR][1000 genomes]
rs28663019	0.86[EUR][1000 genomes]
rs2899854	0.88[EUR][1000 genomes]
rs34123291	0.87[ASN][1000 genomes]
rs34138206	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34164918	0.86[EUR][1000 genomes]
rs34360521	0.87[ASN][1000 genomes]
rs34503846	0.87[EUR][1000 genomes]
rs34613310	0.84[EUR][1000 genomes]
rs35127962	0.87[EUR][1000 genomes]
rs35322850	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35412613	0.89[EUR][1000 genomes]
rs35799924	0.89[EUR][1000 genomes]
rs36057482	0.87[EUR][1000 genomes]
rs36112910	0.87[EUR][1000 genomes]
rs3861484	0.85[EUR][1000 genomes]
rs4344641	0.81[EUR][1000 genomes]
rs4522325	0.87[EUR][1000 genomes]
rs4605060	0.85[EUR][1000 genomes]
rs4900692	0.95[CEU][hapmap];0.84[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61988264	0.88[ASN][1000 genomes]
rs61988282	0.85[EUR][1000 genomes]
rs61988284	0.86[EUR][1000 genomes]
rs61988286	0.86[EUR][1000 genomes]
rs61988287	0.86[EUR][1000 genomes]
rs61988304	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61988307	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6571791	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6571792	0.88[ASN][1000 genomes]
rs6571793	0.88[ASN][1000 genomes]
rs6571794	0.88[ASN][1000 genomes]
rs6571798	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6571812	0.80[CEU][hapmap];0.82[CHD][hapmap]
rs68051257	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs714229	0.82[CEU][hapmap];0.83[GIH][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs714230	0.82[CEU][hapmap];0.83[GIH][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs7142673	0.82[CEU][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs7142924	0.88[ASN][1000 genomes]
rs7143494	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs7143703	0.88[ASN][1000 genomes]
rs7143872	0.86[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7143938	0.86[CEU][hapmap];0.85[GIH][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes]
rs7145475	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs7145671	0.82[CHD][hapmap]
rs7145768	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7146935	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7148710	0.84[EUR][1000 genomes]
rs7149939	0.82[CEU][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs7151191	0.80[CEU][hapmap];0.86[TSI][hapmap]
rs7151497	0.82[CEU][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs7151519	0.87[ASN][1000 genomes]
rs7153180	0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap]
rs7157361	0.88[ASN][1000 genomes]
rs7161425	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs72671718	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8004700	0.88[ASN][1000 genomes]
rs8005945	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8006144	0.85[EUR][1000 genomes]
rs8007251	0.85[EUR][1000 genomes]
rs8008655	0.82[CHD][hapmap]
rs8011459	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8012018	0.82[CEU][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs8012643	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8014303	0.88[ASN][1000 genomes]
rs8015022	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8015159	0.83[EUR][1000 genomes]
rs8015843	0.88[ASN][1000 genomes]
rs8016262	0.88[ASN][1000 genomes]
rs8018493	0.82[EUR][1000 genomes]
rs8019549	0.82[CEU][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs8019652	0.83[EUR][1000 genomes]
rs8019950	0.83[ASN][1000 genomes]
rs8021181	0.86[EUR][1000 genomes]
rs8022156	0.86[EUR][1000 genomes]
rs910509	0.82[CEU][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs9322977	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv915783	chr14:37607836-38002966	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036854	chr14:37609535-38013533	Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv542045	chr14:37609535-38013533	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv901635	chr14:37623177-37782273	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv3528451	chr14:37631483-37771365	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3527359	chr14:37631504-37771435	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv3370191	chr14:37631508-37771354	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3527360	chr14:37631521-37771311	Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv3528462	chr14:37631535-37771345	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv3528473	chr14:37631543-37771255	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv3527361	chr14:37631554-37771408	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3528484	chr14:37631599-37771228	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	esv3527363	chr14:37631608-37771230	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv901636	chr14:37702799-37736054	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv901637	chr14:37702799-37743583	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv901638	chr14:37702799-37814824	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8018823	SEC23A	cis	cerebellum	SCAN
rs8018823	MBIP	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37694800-37756400	Weak transcription	Aorta	Aorta
2	chr14:37706400-37723200	Weak transcription	NHEK	skin
3	chr14:37710400-37724000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr14:37710600-37722000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:37710600-37723800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:37710800-37721200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr14:37715800-37722600	Enhancers	Liver	Liver
8	chr14:37716000-37729400	Weak transcription	Psoas Muscle	Psoas
9	chr14:37716000-37732800	Weak transcription	Fetal Lung	lung
10	chr14:37716000-37770600	Weak transcription	A549	lung
11	chr14:37716400-37718800	Weak transcription	Left Ventricle	heart
12	chr14:37716600-37719000	Weak transcription	Brain Angular Gyrus	brain
13	chr14:37717000-37718200	Genic enhancers	HepG2	liver
14	chr14:37717200-37718200	Strong transcription	Ovary	ovary
15	chr14:37717400-37718200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:37717600-37723200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:37717600-37726400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:37717800-37721600	Weak transcription	HUVEC	blood vessel
19	chr14:37717800-37738600	Weak transcription	Fetal Intestine Small	intestine
20	chr14:37718000-37719600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:37718000-37737600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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