Variant report

Variant	rs17073724
Chromosome Location	chr13:50649498-50649499
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50637584..50641226-chr13:50648962..50651293,3	K562	blood:
2	chr13:50649100..50651951-chr13:50697480..50700308,3	MCF-7	breast:
3	chr13:50646342..50650617-chr13:50662203..50666443,4	K562	blood:
4	chr13:50648474..50650131-chr13:50932014..50934114,2	K562	blood:
5	chr13:50648613..50653610-chr13:50653770..50656813,5	MCF-7	breast:
6	chr13:50648761..50651214-chr13:50695521..50698783,3	K562	blood:
7	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
ENSG00000176124	Chromatin interaction
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs1043208	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10492746	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1063181	0.84[ASN][1000 genomes]
rs1063183	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12100038	0.84[ASN][1000 genomes]
rs12100048	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12583615	1.00[CHB][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12583637	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12583652	1.00[ASN][1000 genomes]
rs12583823	0.95[ASN][1000 genomes]
rs12584069	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12585753	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1323451	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17073682	1.00[ASN][1000 genomes]
rs17073826	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs17073834	0.86[EUR][1000 genomes]
rs17471092	0.90[EUR][1000 genomes]
rs1807033	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2066540	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2066546	1.00[ASN][1000 genomes]
rs2066547	1.00[ASN][1000 genomes]
rs2066552	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2066553	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2066555	1.00[CHB][hapmap];1.00[JPT][hapmap];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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2181268	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2407881	0.95[ASN][1000 genomes]
rs2407882	1.00[CHB][hapmap];1.00[JPT][hapmap];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	0.82[AMR][1000 genomes]
rs61960449	0.84[ASN][1000 genomes]
rs61960450	0.84[ASN][1000 genomes]
rs61960451	0.84[ASN][1000 genomes]
rs61960454	0.95[ASN][1000 genomes]
rs61960455	0.95[ASN][1000 genomes]
rs61960457	0.83[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	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61961302	1.00[ASN][1000 genomes]
rs61961303	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61961304	0.83[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	0.85[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	0.85[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	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6561572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6561575	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[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	0.80[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]
rs7325091	1.00[CHB][hapmap]
rs7325993	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs732729	1.00[CHB][hapmap];1.00[JPT][hapmap];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[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7336477	0.95[ASN][1000 genomes]
rs7336927	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7339181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790944	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7981648	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs7982125	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7984332	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7984907	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986364	1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986432	0.95[ASN][1000 genomes]
rs7990502	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7991454	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7991744	0.89[EUR][1000 genomes]
rs7992903	0.95[ASN][1000 genomes]
rs7994224	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7995557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7997305	0.95[ASN][1000 genomes]
rs7997402	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7997638	1.00[ASN][1000 genomes]
rs7998223	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998391	0.80[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
rs17073724	TRIM13	Cis_1M	lymphoblastoid	RTeQTL
rs17073724	DLEU1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 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	chr13:50626600-50654000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr13:50628400-50652400	Weak transcription	Psoas Muscle	Psoas
16	chr13:50630000-50651000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:50633000-50653600	Weak transcription	Fetal Stomach	stomach
18	chr13:50633400-50652200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr13:50638400-50653400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr13:50640200-50650800	Weak transcription	Right Ventricle	heart
21	chr13:50640400-50649800	Weak transcription	Colon Smooth Muscle	Colon
22	chr13:50641200-50651600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr13:50641400-50654200	Weak transcription	Left Ventricle	heart
24	chr13:50641600-50650200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr13:50641600-50651800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr13:50641600-50653600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr13:50641800-50654400	Weak transcription	Lung	lung
28	chr13:50642200-50652400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr13:50642400-50652200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr13:50642600-50649600	Weak transcription	HepG2	liver
31	chr13:50642600-50651600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr13:50642600-50653000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:50642600-50653600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr13:50642600-50654600	Weak transcription	Gastric	stomach
35	chr13:50643000-50652200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr13:50643000-50652200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:50643000-50653200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr13:50643200-50653400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr13:50644200-50651000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr13:50645200-50652400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr13:50645400-50653000	Enhancers	Primary T cells from cord blood	blood
42	chr13:50645400-50653200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr13:50645600-50652200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr13:50645800-50649800	Weak transcription	Thymus	Thymus
45	chr13:50645800-50649800	Weak transcription	HSMMtube	muscle
46	chr13:50645800-50649800	Enhancers	Osteobl	bone
47	chr13:50645800-50650000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr13:50645800-50652200	Weak transcription	Fetal Intestine Large	intestine
49	chr13:50645800-50652600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr13:50646000-50649800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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