Variant report

Variant	rs61961323
Chromosome Location	chr13:50627148-50627149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:50626943-50627534	GM12878	blood:	n/a	n/a
2	POLR2A	chr13:50627062-50627192	K562	blood:	n/a	n/a
3	POLR2A	chr13:50627100-50627305	MCF-7	breast:	n/a	n/a
4	POLR2A	chr13:50626115-50630065	K562	blood:	n/a	n/a
5	POLR2A	chr13:50626341-50628253	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50622841..50626004-chr13:50627030..50631037,4	K562	blood:

Variant related genes	Relation type
MIR16-1	TF binding region
DLEU2	TF binding region
ENSG00000231607	Chromatin interaction
ENSG00000208006	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs1043208	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10492746	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1063181	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12100038	0.84[ASN][1000 genomes]
rs12100048	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12583615	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12583637	0.86[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	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12585753	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1323451	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][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];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073826	0.84[EUR][1000 genomes]
rs17073834	0.82[EUR][1000 genomes]
rs17471092	0.86[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	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066562	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066565	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066566	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177313	0.88[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]
rs4614628	0.83[AFR][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	0.87[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	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61960449	0.84[ASN][1000 genomes]
rs61960450	0.84[ASN][1000 genomes]
rs61960451	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61960454	0.95[ASN][1000 genomes]
rs61960455	0.95[ASN][1000 genomes]
rs61960457	0.91[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	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61961302	1.00[ASN][1000 genomes]
rs61961303	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61961304	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961305	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961306	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61961324	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961327	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961328	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61962359	0.84[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];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561576	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66559968	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66756338	1.00[ASN][1000 genomes]
rs7319351	0.95[ASN][1000 genomes]
rs73196708	0.84[ASN][1000 genomes]
rs73196731	0.89[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	0.82[EUR][1000 genomes]
rs7325993	0.86[AMR][1000 genomes];0.95[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];0.94[EUR][1000 genomes]
rs7334063	1.00[ASN][1000 genomes]
rs7336477	0.95[ASN][1000 genomes]
rs7336927	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7339181	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790944	1.00[ASN][1000 genomes]
rs7981648	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7982125	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7984332	1.00[ASN][1000 genomes]
rs7984907	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986364	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986432	0.95[ASN][1000 genomes]
rs7991454	0.83[AFR][1000 genomes]
rs7991744	0.80[AFR][1000 genomes];0.85[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	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7997638	1.00[ASN][1000 genomes]
rs7998223	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998391	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9596240	0.82[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
rs61961323	DLEU1	Cis_1M	lymphoblastoid	RTeQTL
rs61961323	TRIM13	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50578600-50629800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:50578800-50654400	Weak transcription	Esophagus	oesophagus
3	chr13:50586800-50654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:50587000-50633800	Weak transcription	Hela-S3	cervix
5	chr13:50587000-50645600	Weak transcription	Spleen	Spleen
6	chr13:50588000-50645600	Weak transcription	Ovary	ovary
7	chr13:50589800-50645600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr13:50590200-50653600	Weak transcription	Small Intestine	intestine
9	chr13:50594600-50635000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr13:50594800-50641000	Weak transcription	Lung	lung
11	chr13:50594800-50643200	Weak transcription	Brain Hippocampus Middle	brain
12	chr13:50594800-50643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr13:50595000-50654200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr13:50595200-50640000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr13:50595800-50654400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:50598200-50629800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr13:50598200-50634800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr13:50598200-50641000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr13:50598600-50627800	Weak transcription	Brain Germinal Matrix	brain
20	chr13:50598600-50640000	Weak transcription	Placenta	Placenta
21	chr13:50598600-50650200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr13:50601600-50641000	Weak transcription	Left Ventricle	heart
23	chr13:50604800-50634000	Weak transcription	NHEK	skin
24	chr13:50608600-50639800	Weak transcription	NHLF	lung
25	chr13:50611800-50646400	Strong transcription	Fetal Thymus	thymus
26	chr13:50612200-50639800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr13:50612400-50639800	Strong transcription	Dnd41	blood
28	chr13:50612400-50643000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr13:50612600-50639800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr13:50612600-50644200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:50612800-50645400	Weak transcription	HSMMtube	muscle
32	chr13:50614000-50643800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr13:50615200-50643200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr13:50616000-50653600	Weak transcription	Fetal Kidney	kidney
35	chr13:50616600-50639800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr13:50617400-50634200	Weak transcription	Adipose Nuclei	Adipose
37	chr13:50617400-50640400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr13:50617400-50650000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr13:50617400-50654200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:50617600-50628800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:50617600-50634400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr13:50617800-50635200	Weak transcription	Fetal Brain Female	brain
43	chr13:50619200-50634600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr13:50619400-50629200	Weak transcription	HMEC	breast
45	chr13:50619400-50640200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr13:50620000-50630000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr13:50621000-50627200	Weak transcription	HUVEC	blood vessel
48	chr13:50621000-50632000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr13:50621400-50628200	Weak transcription	NH-A	brain
50	chr13:50621400-50645600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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