Variant report

Variant	rs2504133
Chromosome Location	chr10:38391376-38391377
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs176831	0.83[EUR][1000 genomes]
rs176832	0.81[EUR][1000 genomes]
rs176890	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1854562	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2021651	0.81[EUR][1000 genomes]
rs2472159	0.80[EUR][1000 genomes]
rs2480521	0.82[EUR][1000 genomes]
rs2505218	0.82[EUR][1000 genomes]
rs55904726	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59251750	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66704357	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67385632	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68103671	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7088655	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1051121	chr10:38155991-38426204	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv540565	chr10:38155991-38426204	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv540566	chr10:38301001-38680127	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv550419	chr10:38311777-38501654	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv6465	chr10:38377662-38422125	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2504133	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL
rs2504133	ZNF37A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38384400-38396400	Weak transcription	HUVEC	blood vessel
2	chr10:38384600-38391400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr10:38384600-38391400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr10:38384600-38391400	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr10:38384600-38391800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:38384600-38392800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr10:38384600-38392800	Weak transcription	Gastric	stomach
8	chr10:38384800-38391600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr10:38384800-38392800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr10:38384800-38392800	Weak transcription	Spleen	Spleen
11	chr10:38385000-38392800	Weak transcription	Pancreas	Pancrea
12	chr10:38385200-38391600	Strong transcription	Primary B cells from cord blood	blood
13	chr10:38385400-38394400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:38385600-38391400	Weak transcription	NHEK	skin
15	chr10:38385600-38392800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:38385600-38396200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:38386000-38395200	Weak transcription	Hela-S3	cervix
18	chr10:38386200-38392800	Weak transcription	HSMMtube	muscle
19	chr10:38386200-38396000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
20	chr10:38386400-38393000	Weak transcription	Right Ventricle	heart
21	chr10:38386800-38395800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:38386800-38396200	ZNF genes & repeats	Fetal Brain Female	brain
23	chr10:38386800-38396200	ZNF genes & repeats	Fetal Lung	lung
24	chr10:38387000-38392800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr10:38387400-38392800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr10:38387400-38392800	Weak transcription	HMEC	breast
27	chr10:38387600-38391800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:38387600-38398800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:38387800-38391600	Weak transcription	Osteobl	bone
30	chr10:38387800-38396800	ZNF genes & repeats	Liver	Liver
31	chr10:38388000-38393000	Weak transcription	Placenta	Placenta
32	chr10:38388200-38396200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:38388200-38399200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr10:38388400-38391400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr10:38388400-38391400	Weak transcription	Brain Hippocampus Middle	brain
36	chr10:38388400-38391600	Weak transcription	Fetal Brain Male	brain
37	chr10:38388600-38392000	Weak transcription	K562	blood
38	chr10:38388600-38394800	Weak transcription	NHDF-Ad	bronchial
39	chr10:38388600-38397600	Weak transcription	NH-A	brain
40	chr10:38388800-38392800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr10:38389200-38395800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
42	chr10:38389200-38396000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr10:38389400-38392800	Weak transcription	Aorta	Aorta
44	chr10:38389600-38391400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr10:38389600-38392000	Strong transcription	Primary hematopoietic stem cells	blood
46	chr10:38389600-38392200	Weak transcription	Fetal Muscle Leg	muscle
47	chr10:38389600-38392800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr10:38389600-38392800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr10:38389600-38392800	Weak transcription	Esophagus	oesophagus
50	chr10:38389600-38392800	Weak transcription	Lung	lung

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