Variant report

Variant	rs882231
Chromosome Location	chr14:37117929-37117930
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:1)
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	chr14:37116820..37118183-chr14:37618958..37620155,6	MCF-7	breast:
2	chr14:37117193..37117982-chr14:37618414..37619153,3	K562	blood:
3	chr14:37117246..37117989-chr14:37411042..37411700,6	MCF-7	breast:
4	chr14:37117455..37118380-chr14:37411140..37411900,2	MCF-7	breast:
5	chr14:37115106..37119062-chr14:37125097..37130192,4	K562	blood:
6	chr14:37116855..37119062-chr14:37125097..37127949,2	K562	blood:
7	chr14:37115811..37118059-chr14:37119729..37122052,2	K562	blood:
8	chr14:37116649..37118063-chr14:37216346..37217730,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC25A21-1	chr14:37116288-37118642	ENSG00000258661.1

No data

Variant related genes	Relation type
ENSG00000198807	Chromatin interaction
ENSG00000258661	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11621707	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.91[LWK][hapmap];0.87[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11625262	0.81[ASN][1000 genomes]
rs11627120	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11628029	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11629412	0.80[ASN][1000 genomes]
rs11846499	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12587790	0.96[CEU][hapmap];0.87[CHB][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap]
rs12882923	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12883298	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12885529	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12892031	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12893140	0.81[ASN][1000 genomes]
rs12893199	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12897282	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12897452	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1569847	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1950362	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1955734	0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs1955751	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1955752	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1983669	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1983670	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2073242	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2207535	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2207536	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2224031	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2295219	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4899813	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5011317	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6571754	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6571758	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7142505	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7146835	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7149520	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7156439	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7157598	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7158341	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7158851	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7158930	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7159629	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8004187	1.00[CEU][hapmap];0.80[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8004560	1.00[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8005670	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8008416	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8009118	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8010186	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs882232	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs910506	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910507	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910508	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv949612	chr14:36996206-37121633	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv3523585	chr14:37115226-37118074	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3523596	chr14:37115226-37118074	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs882231	SEC23A	cis	cerebellum	SCAN
rs882231	FOXA1	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37114800-37118200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:37116000-37118000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:37116000-37118000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr14:37116000-37118000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr14:37116000-37118000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:37116000-37118000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr14:37116200-37118000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:37116200-37118000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:37117400-37118000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr14:37117600-37118000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr14:37117600-37118000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:37117600-37118000	Bivalent Enhancer	Liver	Liver
13	chr14:37117600-37118000	Flanking Active TSS	Esophagus	oesophagus
14	chr14:37117600-37118000	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr14:37117600-37118000	Bivalent Enhancer	Fetal Stomach	stomach
16	chr14:37117600-37118000	Flanking Bivalent TSS/Enh	A549	lung
17	chr14:37117600-37118400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:37117800-37118000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr14:37117800-37118000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
20	chr14:37117800-37118000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:37117800-37118000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
22	chr14:37117800-37118000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
23	chr14:37117800-37118000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:37117800-37118000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:37117800-37118000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
26	chr14:37117800-37118000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
27	chr14:37117800-37118000	Flanking Bivalent TSS/Enh	Fetal Heart	heart
28	chr14:37117800-37118000	Bivalent Enhancer	Fetal Kidney	kidney
29	chr14:37117800-37118000	Bivalent Enhancer	Left Ventricle	heart
30	chr14:37117800-37118000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
31	chr14:37117800-37118000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr14:37117800-37118000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
33	chr14:37117800-37118000	Bivalent Enhancer	HepG2	liver
34	chr14:37117800-37118000	Bivalent Enhancer	HSMMtube	muscle

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