Variant report

Variant	rs1323451
Chromosome Location	chr13:50646665-50646666
allele	C/T
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	chr13:50645718..50648310-chr13:50652570..50656008,3	MCF-7	breast:
2	chr13:50646342..50650617-chr13:50662203..50666443,4	K562	blood:
3	chr13:50638410..50642177-chr13:50643409..50648630,6	K562	blood:
4	chr13:50570406..50572751-chr13:50644478..50647028,2	MCF-7	breast:
5	chr13:50644274..50647771-chr13:50654406..50657878,4	MCF-7	breast:
6	chr13:50644302..50647195-chr13:50765968..50768337,2	K562	blood:
7	chr13:50645726..50647924-chr13:50649661..50651928,2	MCF-7	breast:
8	chr13:50640962..50642807-chr13:50646413..50649887,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLEU1-2	chr13:50645106-50655642	NONHSAT033808

No data

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000176124	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1043208	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10492746	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1063181	0.84[ASN][1000 genomes]
rs12100038	0.84[ASN][1000 genomes]
rs12100048	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12583615	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12583637	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12583652	1.00[ASN][1000 genomes]
rs12583823	0.95[ASN][1000 genomes]
rs12584069	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12585753	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17073655	0.95[ASN][1000 genomes]
rs17073682	1.00[ASN][1000 genomes]
rs17073724	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073826	0.88[EUR][1000 genomes]
rs17073834	0.86[EUR][1000 genomes]
rs17471092	0.90[EUR][1000 genomes]
rs1807033	0.84[ASN][1000 genomes]
rs2066540	1.00[ASN][1000 genomes]
rs2066546	1.00[ASN][1000 genomes]
rs2066547	1.00[ASN][1000 genomes]
rs2066552	1.00[ASN][1000 genomes]
rs2066553	1.00[ASN][1000 genomes]
rs2066555	0.90[ASN][1000 genomes]
rs2066559	1.00[ASN][1000 genomes]
rs2066562	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066565	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066566	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177313	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181267	0.84[ASN][1000 genomes]
rs2181268	0.84[ASN][1000 genomes]
rs2407881	0.95[ASN][1000 genomes]
rs2407882	0.95[ASN][1000 genomes]
rs41308548	0.84[ASN][1000 genomes]
rs55638467	0.84[ASN][1000 genomes]
rs55727821	0.84[ASN][1000 genomes]
rs55869555	0.84[ASN][1000 genomes]
rs57230741	0.95[ASN][1000 genomes]
rs59931782	0.95[ASN][1000 genomes]
rs60583460	1.00[ASN][1000 genomes]
rs60828549	0.86[ASN][1000 genomes]
rs60926548	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61960442	0.84[ASN][1000 genomes]
rs61960445	0.84[ASN][1000 genomes]
rs61960446	0.84[ASN][1000 genomes]
rs61960447	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61960449	0.84[ASN][1000 genomes]
rs61960450	0.84[ASN][1000 genomes]
rs61960451	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61960454	0.95[ASN][1000 genomes]
rs61960455	0.95[ASN][1000 genomes]
rs61960457	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61961261	0.95[ASN][1000 genomes]
rs61961263	0.95[ASN][1000 genomes]
rs61961294	1.00[ASN][1000 genomes]
rs61961298	1.00[ASN][1000 genomes]
rs61961299	1.00[ASN][1000 genomes]
rs61961301	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61961302	1.00[ASN][1000 genomes]
rs61961303	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61961304	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961305	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961306	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61961323	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961324	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961325	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961327	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961328	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61962359	0.88[EUR][1000 genomes]
rs6561571	0.95[ASN][1000 genomes]
rs6561572	0.95[ASN][1000 genomes]
rs6561575	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561576	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66559968	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66756338	1.00[ASN][1000 genomes]
rs7140070	0.81[EUR][1000 genomes]
rs7319351	0.95[ASN][1000 genomes]
rs73196708	0.84[ASN][1000 genomes]
rs73196731	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73196734	1.00[ASN][1000 genomes]
rs73196744	0.95[ASN][1000 genomes]
rs73196768	0.86[EUR][1000 genomes]
rs7325993	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs732729	0.84[ASN][1000 genomes]
rs7328892	0.84[ASN][1000 genomes]
rs7331247	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7334063	1.00[ASN][1000 genomes]
rs7336477	0.95[ASN][1000 genomes]
rs7336927	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7339181	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790944	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7981648	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7982125	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7984332	1.00[ASN][1000 genomes]
rs7984907	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986364	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986432	0.95[ASN][1000 genomes]
rs7991744	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7992903	0.95[ASN][1000 genomes]
rs7994224	0.95[ASN][1000 genomes]
rs7995557	0.84[ASN][1000 genomes]
rs7997305	0.95[ASN][1000 genomes]
rs7997402	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7997638	1.00[ASN][1000 genomes]
rs7998223	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998391	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9596240	0.86[EUR][1000 genomes]
rs9670083	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv1054415	chr13:50598121-50650938	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1202 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1323451	DLEU1	Cis_1M	lymphoblastoid	RTeQTL
rs1323451	TRIM13	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50578800-50654400	Weak transcription	Esophagus	oesophagus
2	chr13:50586800-50654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:50590200-50653600	Weak transcription	Small Intestine	intestine
4	chr13:50595000-50654200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr13:50595800-50654400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:50598600-50650200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr13:50616000-50653600	Weak transcription	Fetal Kidney	kidney
8	chr13:50617400-50650000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr13:50617400-50654200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:50622600-50653400	Weak transcription	Fetal Brain Male	brain
11	chr13:50622800-50653400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr13:50624400-50654200	Weak transcription	Pancreas	Pancrea
13	chr13:50625400-50654200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:50625600-50649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr13:50626600-50654000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr13:50628400-50652400	Weak transcription	Psoas Muscle	Psoas
17	chr13:50630000-50651000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:50633000-50653600	Weak transcription	Fetal Stomach	stomach
19	chr13:50633400-50652200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr13:50638400-50653400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:50639800-50649000	Genic enhancers	Dnd41	blood
22	chr13:50640200-50650800	Weak transcription	Right Ventricle	heart
23	chr13:50640400-50649800	Weak transcription	Colon Smooth Muscle	Colon
24	chr13:50641200-50651600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr13:50641400-50654200	Weak transcription	Left Ventricle	heart
26	chr13:50641600-50650200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr13:50641600-50651800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr13:50641600-50653600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr13:50641800-50654400	Weak transcription	Lung	lung
30	chr13:50642200-50647000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr13:50642200-50652400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr13:50642400-50652200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr13:50642600-50649600	Weak transcription	HepG2	liver
34	chr13:50642600-50651600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr13:50642600-50653000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:50642600-50653600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr13:50642600-50654600	Weak transcription	Gastric	stomach
38	chr13:50643000-50652200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr13:50643000-50652200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:50643000-50653200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr13:50643200-50653400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr13:50643400-50647600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr13:50643400-50647600	Weak transcription	Hela-S3	cervix
44	chr13:50644000-50648600	Enhancers	Fetal Heart	heart
45	chr13:50644200-50651000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr13:50644400-50649400	Enhancers	Primary B cells from cord blood	blood
47	chr13:50644800-50647800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:50645200-50652400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr13:50645400-50647200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr13:50645400-50653000	Enhancers	Primary T cells from cord blood	blood

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