Variant report

Variant	rs8038101
Chromosome Location	chr15:51760146-51760147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:51753717..51756435-chr15:51759553..51761218,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10220909	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1031664	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10438320	0.83[EUR][1000 genomes]
rs10467923	0.86[EUR][1000 genomes]
rs10467924	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1080394	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10851500	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10851502	0.82[EUR][1000 genomes]
rs11070851	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11070852	0.84[EUR][1000 genomes]
rs11070853	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11070854	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11070855	0.83[EUR][1000 genomes]
rs11070856	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11070857	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11070863	0.82[EUR][1000 genomes]
rs11630336	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11630743	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11630842	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11631408	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11632853	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11634110	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11634999	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11635216	0.81[EUR][1000 genomes]
rs11635592	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11636170	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11638240	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12101730	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12101920	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12102203	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12438892	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12441167	0.83[EUR][1000 genomes]
rs12441759	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12442725	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12443362	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12592179	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12592653	0.80[EUR][1000 genomes]
rs12592889	0.83[EUR][1000 genomes]
rs12593979	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12913493	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17524813	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17603116	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17609666	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17609693	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17609791	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17609812	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2124875	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2414105	0.81[EUR][1000 genomes]
rs2414106	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28393906	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28410165	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28415556	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28431083	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28648597	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28680710	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28695624	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28854610	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28878886	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3736485	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4143721	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4143722	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4143723	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4143724	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4144941	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4462537	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4545756	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4774589	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4774591	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4774592	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4774593	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4774597	0.81[EUR][1000 genomes]
rs4775943	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4775944	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4775946	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4775951	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4775952	0.81[EUR][1000 genomes]
rs4775953	0.81[EUR][1000 genomes]
rs4775955	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55981933	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56189052	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62014659	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6493498	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6493499	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6493500	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6493501	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6493503	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6493505	0.82[EUR][1000 genomes]
rs67524810	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7161973	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7162361	0.81[EUR][1000 genomes]
rs7162412	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7162563	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7164265	0.84[ASN][1000 genomes]
rs7165887	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7168546	0.81[AMR][1000 genomes]
rs7170330	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7171439	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7173880	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7174495	0.84[EUR][1000 genomes]
rs7181470	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7182977	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8024506	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8030534	0.83[EUR][1000 genomes]
rs8031903	0.82[EUR][1000 genomes]
rs8035135	0.80[EUR][1000 genomes]
rs8036609	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8036821	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8036904	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8037340	0.81[EUR][1000 genomes]
rs8037840	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8038203	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8038341	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8039073	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8041514	0.81[EUR][1000 genomes]
rs8042221	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs882386	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs930920	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9944263	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv904217	chr15:51695653-51881980	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv904218	chr15:51743186-51873407	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8038101	DMXL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51737000-51775600	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr15:51737000-51776400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr15:51737600-51762400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:51737800-51762400	Weak transcription	Colonic Mucosa	Colon
5	chr15:51738200-51784600	Weak transcription	Stomach Mucosa	stomach
6	chr15:51738400-51777400	Weak transcription	Small Intestine	intestine
7	chr15:51739000-51776000	Weak transcription	Gastric	stomach
8	chr15:51740800-51775200	Weak transcription	Pancreas	Pancrea
9	chr15:51742400-51764800	Weak transcription	Primary B cells from cord blood	blood
10	chr15:51742400-51775800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:51742600-51762000	Weak transcription	Spleen	Spleen
12	chr15:51742600-51762200	Weak transcription	Aorta	Aorta
13	chr15:51742600-51775400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:51742600-51775400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr15:51742600-51776000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:51742600-51776600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr15:51742600-51776800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr15:51743000-51774200	Weak transcription	HMEC	breast
19	chr15:51743000-51775200	Weak transcription	HSMMtube	muscle
20	chr15:51743000-51780200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:51743600-51769600	Weak transcription	HSMM	muscle
22	chr15:51747800-51762200	Weak transcription	Primary T cells from cord blood	blood
23	chr15:51748000-51776400	Weak transcription	Right Ventricle	heart
24	chr15:51748200-51774400	Weak transcription	Fetal Heart	heart
25	chr15:51748400-51762200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:51749000-51776600	Weak transcription	Fetal Kidney	kidney
27	chr15:51749200-51762000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr15:51749200-51772800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr15:51749200-51775400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:51749200-51777400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:51749400-51762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:51749400-51762200	Weak transcription	Lung	lung
33	chr15:51749600-51762000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:51749600-51762200	Weak transcription	Fetal Stomach	stomach
35	chr15:51749600-51762400	Weak transcription	Brain Hippocampus Middle	brain
36	chr15:51749600-51765200	Weak transcription	Thymus	Thymus
37	chr15:51749600-51775000	Weak transcription	Fetal Intestine Small	intestine
38	chr15:51749800-51762000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:51749800-51762000	Weak transcription	GM12878-XiMat	blood
40	chr15:51750400-51770000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr15:51750400-51775400	Weak transcription	Brain Substantia Nigra	brain
42	chr15:51750800-51761400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr15:51750800-51776200	Weak transcription	NHDF-Ad	bronchial
44	chr15:51750800-51776600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr15:51750800-51777400	Weak transcription	Osteobl	bone
46	chr15:51751000-51762000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:51751000-51762800	Weak transcription	Dnd41	blood
48	chr15:51751000-51776200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:51751000-51777400	Weak transcription	NHLF	lung
50	chr15:51751200-51762600	Weak transcription	Brain Germinal Matrix	brain

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