Variant report

Variant	rs2177313
Chromosome Location	chr13:50629408-50629409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50628040..50629720-chr13:50642788..50645600,2	K562	blood:
2	chr13:50612381..50614497-chr13:50629239..50631320,2	K562	blood:
3	chr13:50622841..50626004-chr13:50628455..50631037,3	K562	blood:
4	chr13:50628303..50631311-chr13:50635379..50638823,3	K562	blood:
5	chr13:50622841..50626004-chr13:50627030..50631037,4	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction
ENSG00000208006	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	1.00[ASN][1000 genomes]
rs10492746	1.00[ASN][1000 genomes]
rs1063181	0.84[ASN][1000 genomes]
rs1063183	1.00[JPT][hapmap]
rs12100038	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12100048	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12583615	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12583637	1.00[ASN][1000 genomes]
rs12583652	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12583823	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12584069	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12584122	0.81[AFR][1000 genomes]
rs12585753	1.00[ASN][1000 genomes]
rs12585966	0.88[AFR][1000 genomes]
rs1323451	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073655	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17073682	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17073724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073826	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs1807033	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2066540	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2066546	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2066547	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2066552	0.86[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2066553	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2066555	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2066559	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066562	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066565	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066566	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066586	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2066598	0.93[CEU][hapmap]
rs2181267	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2181268	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2407881	0.95[ASN][1000 genomes]
rs2407882	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs41308548	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs55638467	0.92[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs55727821	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs55869555	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs57230741	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs59931782	0.95[ASN][1000 genomes]
rs60574696	0.89[AFR][1000 genomes]
rs60583460	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60828549	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60926548	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61960398	0.85[AFR][1000 genomes]
rs61960442	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61960445	0.84[ASN][1000 genomes]
rs61960446	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61960449	0.92[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61960450	0.92[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61960451	0.84[ASN][1000 genomes]
rs61960454	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61960455	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61960457	0.95[ASN][1000 genomes]
rs61961261	0.95[ASN][1000 genomes]
rs61961263	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61961294	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61961298	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61961299	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61961301	1.00[ASN][1000 genomes]
rs61961302	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61961303	1.00[ASN][1000 genomes]
rs61961304	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961305	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961306	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61961323	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961325	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961327	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961328	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561571	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6561572	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6561575	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561576	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66559968	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66756338	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7140070	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7319351	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73196708	0.84[ASN][1000 genomes]
rs73196731	1.00[ASN][1000 genomes]
rs73196734	1.00[ASN][1000 genomes]
rs73196744	0.95[ASN][1000 genomes]
rs7325091	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7325993	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs732729	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7328892	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7331247	0.83[EUR][1000 genomes]
rs7334063	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7336477	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7336927	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7339181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74078717	0.87[AFR][1000 genomes]
rs790944	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7981648	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs7982125	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7984332	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7984907	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986432	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7990502	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7991454	1.00[JPT][hapmap]
rs7992903	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7994224	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7995557	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7997305	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7997402	0.95[ASN][1000 genomes]
rs7997638	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7998223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998391	1.00[ASN][1000 genomes]
rs9670083	0.85[AFR][1000 genomes];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
rs2177313	TRIM13	Cis_1M	lymphoblastoid	RTeQTL
rs2177313	DLEU1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

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	chr13:50598600-50640000	Weak transcription	Placenta	Placenta
20	chr13:50598600-50650200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr13:50601600-50641000	Weak transcription	Left Ventricle	heart
22	chr13:50604800-50634000	Weak transcription	NHEK	skin
23	chr13:50608600-50639800	Weak transcription	NHLF	lung
24	chr13:50611800-50646400	Strong transcription	Fetal Thymus	thymus
25	chr13:50612200-50639800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr13:50612400-50639800	Strong transcription	Dnd41	blood
27	chr13:50612400-50643000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr13:50612600-50639800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr13:50612600-50644200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr13:50612800-50645400	Weak transcription	HSMMtube	muscle
31	chr13:50614000-50643800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr13:50615200-50643200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr13:50616000-50653600	Weak transcription	Fetal Kidney	kidney
34	chr13:50616600-50639800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr13:50617400-50634200	Weak transcription	Adipose Nuclei	Adipose
36	chr13:50617400-50640400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr13:50617400-50650000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr13:50617400-50654200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:50617600-50634400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr13:50617800-50635200	Weak transcription	Fetal Brain Female	brain
41	chr13:50619200-50634600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr13:50619400-50640200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr13:50620000-50630000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr13:50621000-50632000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr13:50621400-50645600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:50621600-50630600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:50622600-50653400	Weak transcription	Fetal Brain Male	brain
48	chr13:50622800-50653400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr13:50623400-50639800	Weak transcription	Fetal Heart	heart
50	chr13:50623400-50645600	Weak transcription	Stomach Smooth Muscle	stomach

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