Variant report

Variant	rs7140070
Chromosome Location	chr13:50644776-50644777
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	chr13:50628040..50629720-chr13:50642788..50645600,2	K562	blood:
2	chr13:50642440..50645245-chr13:50696883..50698935,2	K562	blood:
3	chr13:50643414..50645433-chr13:50654629..50656317,2	MCF-7	breast:
4	chr13:50638410..50642177-chr13:50643409..50648630,6	K562	blood:
5	chr13:50570406..50572751-chr13:50644478..50647028,2	MCF-7	breast:
6	chr13:50643871..50644833-chr13:50654802..50655393,2	MCF-7	breast:
7	chr13:50644274..50647771-chr13:50654406..50657878,4	MCF-7	breast:
8	chr13:50644302..50647195-chr13:50765968..50768337,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRYD7-1	chr13:50644718-50644777	ENSG00000231607

No data

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

Extended variants
information (count: 75 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs12100038	0.81[AFR][1000 genomes]
rs12100048	0.81[EUR][1000 genomes]
rs12583652	0.82[AFR][1000 genomes]
rs12583823	0.82[AFR][1000 genomes]
rs12585966	0.81[AFR][1000 genomes]
rs1323451	0.81[EUR][1000 genomes]
rs17073655	0.81[AFR][1000 genomes]
rs17073682	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17073724	0.81[EUR][1000 genomes]
rs2066540	0.87[AFR][1000 genomes]
rs2066546	0.87[AFR][1000 genomes]
rs2066547	0.87[AFR][1000 genomes]
rs2066552	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2066553	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2066555	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2066559	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2066562	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2066565	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2066586	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2177313	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2407882	0.83[AFR][1000 genomes]
rs41308548	0.81[AFR][1000 genomes]
rs55638467	0.85[AFR][1000 genomes]
rs55869555	0.81[AFR][1000 genomes]
rs57230741	0.86[AFR][1000 genomes]
rs60574696	0.84[AFR][1000 genomes]
rs60583460	0.87[AFR][1000 genomes]
rs60828549	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60926548	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61960442	0.81[AFR][1000 genomes]
rs61960446	0.81[AFR][1000 genomes]
rs61960449	0.85[AFR][1000 genomes]
rs61960450	0.85[AFR][1000 genomes]
rs61960454	0.86[AFR][1000 genomes]
rs61960455	0.82[AFR][1000 genomes]
rs61961263	0.86[AFR][1000 genomes]
rs61961294	0.84[AFR][1000 genomes]
rs61961298	0.87[AFR][1000 genomes]
rs61961299	0.86[AFR][1000 genomes]
rs61961302	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61961306	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61961324	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61961327	0.81[EUR][1000 genomes]
rs61961328	0.81[EUR][1000 genomes]
rs6561571	0.86[AFR][1000 genomes]
rs6561572	0.84[AFR][1000 genomes]
rs6561575	0.80[EUR][1000 genomes]
rs6561576	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66559968	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66756338	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7319351	0.84[AFR][1000 genomes]
rs7325091	0.84[EUR][1000 genomes]
rs7325993	0.81[EUR][1000 genomes]
rs7328892	0.82[AFR][1000 genomes]
rs7334063	0.86[AFR][1000 genomes]
rs7336927	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7339181	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs790944	0.88[EUR][1000 genomes]
rs7984332	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7984907	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7986364	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7986432	0.86[AFR][1000 genomes]
rs7990502	0.86[AFR][1000 genomes]
rs7992903	0.86[AFR][1000 genomes]
rs7994224	0.84[AFR][1000 genomes]
rs7995557	0.81[AFR][1000 genomes]
rs7997305	0.86[AFR][1000 genomes]
rs7997638	0.84[AFR][1000 genomes]
rs7998223	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3361703	chr13:50644422-50644849	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7140070	DLEU1	Cis_1M	lymphoblastoid	RTeQTL
rs7140070	TRIM13	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 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	chr13:50587000-50645600	Weak transcription	Spleen	Spleen
4	chr13:50588000-50645600	Weak transcription	Ovary	ovary
5	chr13:50589800-50645600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr13:50590200-50653600	Weak transcription	Small Intestine	intestine
7	chr13:50595000-50654200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr13:50595800-50654400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:50598600-50650200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr13:50611800-50646400	Strong transcription	Fetal Thymus	thymus
11	chr13:50612800-50645400	Weak transcription	HSMMtube	muscle
12	chr13:50616000-50653600	Weak transcription	Fetal Kidney	kidney
13	chr13:50617400-50650000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr13:50617400-50654200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:50621400-50645600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:50622600-50653400	Weak transcription	Fetal Brain Male	brain
17	chr13:50622800-50653400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr13:50623400-50645600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr13:50624400-50654200	Weak transcription	Pancreas	Pancrea
20	chr13:50625400-50654200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:50625600-50649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr13:50626600-50654000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr13:50628400-50652400	Weak transcription	Psoas Muscle	Psoas
24	chr13:50630000-50651000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:50630600-50645600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:50630800-50645400	Weak transcription	Brain Anterior Caudate	brain
27	chr13:50631200-50645200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr13:50631200-50646200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr13:50631800-50645400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr13:50633000-50653600	Weak transcription	Fetal Stomach	stomach
31	chr13:50633400-50652200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr13:50635000-50645000	Weak transcription	Brain Germinal Matrix	brain
33	chr13:50637000-50645600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr13:50637200-50646200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:50637600-50646200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr13:50638000-50645600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr13:50638400-50653400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr13:50639400-50645600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr13:50639800-50649000	Genic enhancers	Dnd41	blood
40	chr13:50640200-50650800	Weak transcription	Right Ventricle	heart
41	chr13:50640400-50649800	Weak transcription	Colon Smooth Muscle	Colon
42	chr13:50641200-50651600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr13:50641400-50654200	Weak transcription	Left Ventricle	heart
44	chr13:50641600-50650200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr13:50641600-50651800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr13:50641600-50653600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr13:50641800-50645600	Weak transcription	Right Atrium	heart
48	chr13:50641800-50654400	Weak transcription	Lung	lung
49	chr13:50642000-50645200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr13:50642000-50645600	Weak transcription	Fetal Intestine Small	intestine

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